Amyotrophic lateral sclerosis: disease or syndrome

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Titel: A placebo-controlled trial to investigate the safety and efficacy of Penicillin G/Hydrocortisone in patients with ALS (PHALS trial)
Auteur: Van Es, Michael A., Van Eijk, Ruben P.A., Bunte, Tommy M., Van Den Berg, Leonard H.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis
Auteur: Huisman, Mark H. B., Seelen, Meinie, van Doormaal, Perry T. C., de Jong, Sonja W., de Vries, Jeanne H. M., van der Kooi, Anneke J., de Visser, Marianne, Schelhaas, H. Jurgen, van den Berg, Leonard H., Veldink, Jan H.
Magazine: JAMA Neurology

Titel: Author Correction: A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study
Auteur: Hauer, Allard J., Pulit, Sara L., van den Berg, Leonard H., de Bakker, Paul I. W., Veldink, Jan H., Ruigrok, Ynte M.
Magazine: Scientific Reports

Titel: Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Auteur: Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, M
Magazine: Neuron

Titel: The current use of telehealth in ALS care and the barriers to and facilitators of implementation: a systematic review
Auteur: Helleman, Jochem, Kruitwagen, Esther T., van den Berg, Leonard H., Visser-Meily, Johanna M. A., Beelen, Anita
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts.
Auteur: Zhernakova DV, de Klerk E, Westra HJ, Mastrokolias A, Amini S, Ariyurek Y, Jansen R, Penninx BW, Hottenga JJ, Willemsen G, de Geus EJ, Boomsma DI, Veldink JH, van den Berg LH, Wijmenga C, den Dunnen JT, van Ommen GJ, 't Hoen PA, Franke L.
Magazine: PLoS Genetics

Titel: Genomic signals of migration and continuity in Britain before the Anglo-Saxons.
Auteur: Martiniano R, Caffell A, Holst M, Hunter-Mann K, Montgomery J, Müldner G, McLaughlin RL, Teasdale MD, van Rheenen W, Veldink JH, van den Berg LH, Hardiman O, Carroll M, Roskams S, Oxley J, Morgan C, Thomas MG, Barnes I, McDonnell C, Collins MJ, Bradley DG.
Magazine: Nature Communications

Titel: Amyotrophic lateral sclerosis is not linked to multiple sclerosis in a population based study
Auteur: Van Doormaal PT, Gallo A, van Rheenen W, Veldink JH, van Es MA, van den Berg LH.
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
Auteur: Project MinE ALS Sequencing Consortium
Magazine: Annals of Neurology

Titel: Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
Auteur: Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, William
Magazine: Neuron

Titel: A comparative study of brachial plexus sonography and magnetic resonance imaging in chronic inflammatory demyelinating neuropathy and multifocal motor neuropathy
Auteur: Goedee, H. S., Jongbloed, B. A., van Asseldonk, J.-T. H., Hendrikse, J., Vrancken, A. F. J. E., Franssen, H., Nikolakopoulos, S., Visser, L. H., van der Pol, W. L., van den Berg, L. H.
Magazine: European Journal of Neurology

Titel: Characterization of FUS Mutations in Amyotrophic Lateral Sclerosis Using RNA-Seq.
Auteur: van Blitterswijk M, Wang ET, Friedman BA, Keagle PJ, Lowe P, Leclerc AL, van den Berg LH, Housman DE, Veldink JH, Landers JE.
Magazine: PLoS ONE

Titel: Cognitive behavioural therapy and quality of life in psychologically distressed patients with ALS and their caregivers: Results of a prematurely stopped randomized controlled trial
Auteur: Van Groenestijn AC, Schröder CD, Visser-Meily JM, Reenen ET, Veldink JH, van den Berg LH.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
Auteur: Tazelaar, Gijs H.P., Dekker, Annelot M., van Vugt, Joke J.F.A., van der Spek, Rick A., Westeneng, Henk-Jan, Kool, Lindy J.B.G., Kenna, Kevin P., van Rheenen, Wouter, Pulit, Sara L., McLaughlin, Russell L., Sproviero, William, Iacoangeli, Alfredo, Hübers, Annemarie, Brenner, David, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Panadés, Monica Povedano, Mora Pardina, Jesus S., Glass, Jonathan D., Hardiman, Orla, Al-Chalabi, Ammar, van Damme, Philip, Robberecht, Wim, Landers, John E.
Magazine: Neurobiology of Aging

Titel: H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis.
Auteur: van Rheenen W, Diekstra FP, van Doormaal PT, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es MA, van Vught PW, van Damme P, Smith BN, Waibel S, Schelhaas HJ, van der Kooi AJ, de Visser M, Weber M, Robberecht W, Hardiman O, Shaw PJ, Shaw CE, Morrison KE, Al-Chalabi A, Andersen PM, Ludolph AC, Veldink JH, van den Berg LH.
Magazine: Neurobiology of Aging

Titel: Serum angiogenin levels are elevated in ALS, but not Parkinson's disease
Auteur: Van Es MA, Veldink JH, Schelhaas HJ, Bloem BR, Sodaar P, van Nuenen BF, Verbeek M, van de Warrenburg BP, van den Berg LH
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: The Combined Assessment of Function and Survival (CAFS): A new endpoint for ALS clinical trials
Auteur: Berry JD, Miller R, Moore DH, Cudkowicz ME, van den Berg LH, Kerr DA, Dong Y, Ingersoll EW, Archibald D.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Proteomic profiling of the spinal cord in ALS: decreased ATP5D levels suggest synaptic dysfunction in ALS pathogenesis
Auteur: Engelen-Lee, Jooyeon, Blokhuis, Anna M., Spliet, Wim G. M., Pasterkamp, R. Jeroen, Aronica, Eleonora, Demmers, Jeroen A. A., Broekhuizen, Roel, Nardo, Giovanni, Bovenschen, Niels, Van Den Berg, Leonard H.
Magazine: Amyotroph Lateral Scler Frontotemporal Degener

Titel: The life expectancy of Stephen Hawking, according to the ENCALS model
Auteur: Westeneng, Henk-Jan, Al-Chalabi, Ammar, Hardiman, Orla, Debray, Thomas PA, van den Berg, Leonard H
Magazine: Lancet Neurology

Titel: Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Auteur: Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P.
Magazine: Human Molecular Genetics

Titel: Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study
Auteur: van Rheenen, Wouter, Diekstra, Frank P., Harschnitz, Oliver, Westeneng, Henk-Jan, van Eijk, Kristel R., Saris, Christiaan G. J., Groen, Ewout J. N., van Es, Michael A., Blauw, Hylke M., van Vught, Paul W. J., Veldink, Jan H., van den Berg, Leonard H.
Magazine: PLoS ONE

Titel: ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
Auteur: de Bot ST, Veldink JH, Vermeer S, Mensenkamp AR, Brugman F, Scheffer H, van den Berg LH, Kremer HP, Kamsteeg EJ, van de Warrenburg BP
Magazine: Journal of Neurology

Titel: A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study
Auteur: Hauer, Allard J., Pulit, Sara L., van den Berg, Leonard H., de Bakker, Paul I. W., Veldink, Jan H., Ruigrok, Ynte M.
Magazine: Scientific Reports

Titel: Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion
Auteur: De Vocht, Joke, Blommaert, Jeroen, Devrome, Martijn, Radwan, Ahmed, Van Weehaeghe, Donatienne, De Schaepdryver, Maxim, Ceccarini, Jenny, Rezaei, Ahmadreza, Schramm, Georg, van Aalst, June, Chiò, Adriano, Pagani, Marco, Stam, Daphne, Van Esch, Hilde, Lamaire, Nikita, Verhaegen, Marianne, Mertens, Nathalie, Poesen, Koen, van den Berg, Leonard H., van Es, Michael A., Vandenberghe, Rik, Vandenbulcke, Mathieu, Van den Stock, Jan, Koole, Michel, Dupont, Patrick, Van Laere, Koen, Van Damme, Philip
Magazine: JAMA Neurology

Titel: Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
Auteur: Reichenstein, Irit, Eitan, Chen, Diaz-Garcia, Sandra, Haim, Guy, Magen, Iddo, Siany, Aviad, Hoye, Mariah L., Rivkin, Natali, Olender, Tsviya, Toth, Beata, Ravid, Revital, Mandelbaum, Amitai D., Yanowski, Eran, Liang, Jing, Rymer, Jeffrey K., Levy, Rivka, Beck, Gilad, Ainbinder, Elena, Farhan, Sali M. K., Lennox, Kimberly A., Bode, Nicole M., Behlke, Mark A., Möller, Thomas, Saxena, Smita, Moreno, Cristiane A. M., Costaguta, Giancarlo, van Eijk, Kristel R., Phatnani, Hemali, Al-Chalabi, Ammar, B
Magazine: Science translational medicine

Titel: Amyotrophic lateral sclerosis is not linked to multiple sclerosis in a population based study.
Auteur: van Doormaal PT, Gallo A, van Rheenen W, Veldink JH, van Es MA, van den Berg LH.
Magazine: Journal of Neurology, Neurosurgery, and Psychiatry

Titel: Parental age and the risk of amyotrophic lateral sclerosis.
Auteur: de Jong SW, Huisman MH, Hennekam EA, Sutedja NA, van der Kooi AJ, de Visser M, Schelhaas HJ, Fischer K, Veldink JH, van den Berg LH.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Widespread structural brain involvement in ALS is not limited to theC9orf72repeat expansion
Auteur: Westeneng, Henk-Jan, Walhout, Renée, Straathof, Milou, Schmidt, Ruben, Hendrikse, Jeroen, Veldink, Jan H, van den Heuvel, Martijn P, van den Berg, Leonard H
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: TRICALS: creating a highway toward a cure
Auteur: van Eijk, Ruben P.A., Kliest, Tessa, McDermott, Christopher J., Roes, Kit C.B., Van Damme, Philip, Chio, Adriano, Weber, Markus, Ingre, Caroline, Corcia, Philippe, Povedano, Mònica, Reviers, Evy, van Es, Michael A., Al-Chalabi, Ammar, Hardiman, Orla, van den Berg, Leonard H.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
Auteur: van der Spek, Rick A.A., van Rheenen, Wouter, Pulit, Sara L., Kenna, Kevin P., van den Berg, Leonard H., Veldink, Jan H.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Psychological distress in partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: what’s the role of care demands and perceived control?
Auteur: de Wit, Jessica, Beelen, Anita, van den Heerik, Marc S., van den Berg, Leonard H., Visser-Meily, Johanna M. A., Schröder, Carin D.
Magazine: Psychology & Health

Titel: No association between gluten sensitivity and amyotrophic lateral sclerosis
Auteur: Visser, Anne E., Pazoki, Raha, Pulit, Sara L., van Rheenen, Wouter, Raaphorst, Joost, van der Kooi, Anneke J., Ricaño-Ponce, Isis, Wijmenga, Cisca, Otten, Henny G., Veldink, Jan H., van den Berg, Leonard H.
Magazine: Journal of Neurology

Titel: Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.
Auteur: Van Blitterswijk M, Blokhuis A, van Es MA, van Vught PW, Rowicka PA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH*, van den Berg LH*.
Magazine: Neurobiology of Aging

Titel: Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial.
Auteur: Verstraete E, Veldink JH, Huisman MH, Draak T, Uijtendaal EV, van der Kooi AJ, Schelhaas HJ, de Visser M, van der Tweel I, van den Berg LH.
Magazine: Journal of Neurology, Neurosurgery, and Psychiatry

Titel: Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers
Auteur: Cammack, Alexander J., Atassi, Nazem, Hyman, Theodore, van den Berg, Leonard H., Harms, Matthew, Baloh, Robert H., Brown, Robert H., van Es, Michael A., Veldink, Jan H., de Vries, Balint S., Rothstein, Jeffrey D., Drain, Caroline, Jockel-Balsarotti, Jennifer, Malcolm, Amber, Boodram, Sonia, Salter, Amber, Wightman, Nicholas, Yu, Hong, Sherman, Alexander V., Esparza, Thomas J., McKenna-Yasek, Diane, Owegi, Margaret A., Douthwright, Catherine, McCampbell, Alexander, Ferguson, Toby, Cruchaga, Carlo
Magazine: Neurology

Titel: Multicentre, cross-cultural, population-based, case–control study of physical activity as risk factor for amyotrophic lateral sclerosis
Auteur: Visser, Anne E, Rooney, James P K, D’Ovidio, Fabrizio, Westeneng, Henk-Jan, Vermeulen, Roel C H, Beghi, Ettore, Chiò, Adriano, Logroscino, Giancarlo, Hardiman, Orla, Veldink, Jan H, van den Berg, Leonard H
Magazine: Journal of Neurol Neurosurg Psychiatry

Titel: The Beginning of Genomic Therapies for ALS
Auteur: Hardiman, Orla, van den Berg, Leonard H.
Magazine: The New England Journal of Medicine

Titel: Microglia innately develop within cerebral organoids
Auteur: Ormel, Paul R., Vieira de Sá, Renata, van Bodegraven, Emma J., Karst, Henk, Harschnitz, Oliver, Sneeboer, Marjolein A. M., Johansen, Lill Eva, van Dijk, Roland E., Scheefhals, Nicky, Berdenis van Berlekom, Amber, Ribes Martínez, Eduardo, Kling, Sandra, MacGillavry, Harold D., van den Berg, Leonard H., Kahn, René S., Hol, Elly M., de Witte, Lot D., Pasterkamp, R. Jeroen
Magazine: Nature Communications

Titel: Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle.
Auteur: Saris CG, Groen EJ, Van Vught PW, van Es MA, Blauw HM, Veldink JH, van den Berg LH.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
Auteur: Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ; The International Multiple Sclerosis Genetics Consortium, van Es M; The Australia and New Zealand MS Genetics Consortium, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH, Shatunov A, Leigh N, Al-Chalabi A, Shaw CE, Traynor BJ, Chiò A, Restagno G, Mora G, Ophoff RA, Oksenberg JR, Van Damme P, Compston A, Robberecht W, Dubois B, van den Berg LH, De Jager PL, Veldink JH, de Bakker PI.
Magazine: Human Molecular Genetics

Titel: Derivation of norms for the Dutch version of the Edinburgh cognitive and behavioral ALS screen
Auteur: Bakker, Leonhard A., Schröder, Carin D., Spreij, Lauriane A., Verhaegen, Marianne, De Vocht, Joke, Van Damme, Philip, Veldink, Jan H., Visser-Meily, Johanna M.A., van den Berg, Leonard H., Nijboer, Tanja C.W., van Es, Michael A.
Magazine: Amyotroph Lateral Scler Frontotemporal Degener

Titel: Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Auteur: Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE.
Magazine: Nature

Titel: Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study.
Auteur: Al-Chalabi A, Calvo A, Chio A, Colville S, Ellis CM, Hardiman O, Heverin M, Howard RS, Huisman MH, Keren N, Leigh PN, Mazzini L, Mora G, Orrell RW, Rooney J, Scott KM, Scotton WJ, Seelen M, Shaw CE, Sidle KS, Swingler R, Tsuda M, Veldink JH, Visser AE, van den Berg LH, Pearce N.
Magazine: Lancet Neurology

Titel: Connectome-Based Propagation Model in Amyotrophic Lateral Sclerosis
Auteur: Meier, Jil M., Burgh, Hannelore K., Nitert, Abram D., Bede, Peter, Lange, Siemon C., Hardiman, Orla, Berg, Leonard H., Heuvel, Martijn P.
Magazine: Annals of Neurology

Titel: Meta-analysis of gene expression profiling in amyotrophic lateral sclerosis: A comparison between transgenic mouse models and human patients.
Auteur: Saris CG, Groen EJ, Koekkoek JA, Veldink JH, van den Berg LH.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Age-related accrual of methylomic variability is linked to fundamental ageing mechanisms
Auteur: Slieker RC, van Iterson M, Luijk R, Beekman M, Zhernakova DV, Moed MH, Mei H, van Galen M, Deelen P, Bonder MJ, Zhernakova A, Uitterlinden AG, Tigchelaar EF, Stehouwer CD, Schalkwijk CG, van der Kallen CJ, Hofman A, van Heemst D, de Geus EJ, van Dongen J, Deelen J, van den Berg LH, van Meurs J, Jansen R, 't Hoen PA, Franke L, Wijmenga C, Veldink JH, Swertz MA, van Greevenbroek MM, van Duijn CM, Boomsma DI; BIOS consortium. Slagboom PE, Heijmans BT
Magazine: Genome Biology

Titel: Maximizing the Potential of Longitudinal Cohorts for Research in Neurodegenerative Diseases: A Community Perspective
Auteur: Moody, Catherine J., Mitchell, Derick, Kiser, Grace, Aarsland, Dag, Berg, Daniela, Brayne, Carol, Costa, Alberto, Ikram, Mohammad A., Mountain, Gail, Rohrer, Jonathan D., Teunissen, Charlotte E., van den Berg, Leonard H., Wardlaw, Joanna M.
Magazine: Frontiers in Neuroscience

Titel: Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
Auteur: Project MinE ALS Sequencing. ConsortiumProject MinE
Magazine: European Journal of Human Genetics

Titel: Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
Auteur: Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P., Mowry, Br
Magazine: Nature Communications

Titel: Aging effects on DNA methylation modules in human brain and blood tissue.
Auteur: Horvath S, Zhang Y, Langfelder P, Kahn RS, Boks MP, van Eijk K, van den Berg LH, Ophoff RA.
Magazine: Genome Biology

Titel: Long-Term Air Pollution Exposure and Amyotrophic Lateral Sclerosis in Netherlands: A Population-based Case–control Study
Auteur: Seelen, Meinie, Toro Campos, Rosario A., Veldink, Jan H., Visser, Anne E., Hoek, Gerard, Brunekreef, Bert, van der Kooi, Anneke J., de Visser, Marianne, Raaphorst, Joost, van den Berg, Leonard H., Vermeulen, Roel C.H.
Magazine: Environmental Health Perspectives

Titel: Euthanasia and physician-assisted suicide in amyotrophic lateral sclerosis: a prospective study
Auteur: Maessen M, Veldink JH, Onwuteaka-Philipsen BD, Hendricks HT, Schelhaas HJ, Grupstra HF, van der Wal G, van den Berg LH
Magazine: Journal of Neurology

Titel: Reconsidering the causality of TIA1 mutations in ALS
Auteur: van der Spek, Rick A., van Rheenen, Wouter, Pulit, Sara L., Kenna, Kevin P., Ticozzi, Nicola, Kooyman, Maarten, Mclaughlin, Russell L., Moisse, Matthieu, van Eijk, Kristel R., van Vugt, Joke J. F. A., Iacoangeli, Alfredo, Andersen, Peter, Nazli Basak, A., Blair, Ian, de Carvalho, Mamede, Chio, Adriano, Corcia, Philippe, Couratier, Phillipe, Drory, Vivian E., Glass, Jonathan D., Hardiman, Orla, Mora, Jesús S., Morrison, Karen E., Mitne-Neto, Miguel, Robberecht, Wim, Shaw, Pamela J., Panadés, Mo
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: The role of de novo mutations in the development of amyotrophic lateral sclerosis
Auteur: van Doormaal, Perry T.C., Ticozzi, Nicola, Weishaupt, Jochen H., Kenna, Kevin, Diekstra, Frank P., Verde, Federico, Andersen, Peter M., Dekker, Annelot M., Tiloca, Cinzia, Marroquin, Nicolai, Overste, Daniel J., Pensato, Viviana, Nürnberg, Peter, Pulit, Sara L., Schellevis, Raymond D., Calini, Daniela, Altmüller, Janine, Francioli, Laurent C., Muller, Bernard, Castellotti, Barbara, Motameny, Susanne, Ratti, Antonia, Wolf, Joachim, Gellera, Cinzia, Ludolph, Albert C., van den Berg, Leonard H.,
Magazine: Human Mutation

Titel: Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
Auteur: Van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH*, van den Berg LH
Magazine: Human Molecular Genetics

Titel: Genome-wide identification of directed gene networks using large-scale population genomics data
Auteur: Luijk, René, Dekkers, Koen F., van Iterson, Maarten, Arindrarto, Wibowo, Claringbould, Annique, Hop, Paul, Boomsma, Dorret I., van Duijn, Cornelia M., van Greevenbroek, Marleen M. J., Veldink, Jan H., Wijmenga, Cisca, Franke, Lude, ’t Hoen, Peter A. C., Jansen, Rick, van Meurs, Joyce, Mei, Hailiang, Slagboom, P. Eline, Heijmans, Bastiaan T., van Zwet, Erik W.
Magazine: Nature Communications

Titel: Prognostic value of weight loss in patients with amyotrophic lateral sclerosis: a population-based study
Auteur: Janse van Mantgem, Mark R, van Eijk, Ruben P A, van der Burgh, Hannelore K, Tan, Harold H G, Westeneng, Henk-Jan, van Es, Michael A, Veldink, Jan H, van den Berg, Leonard H
Magazine: Journal of Neurol Neurosurg Psychiatry

Titel: Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials
Auteur: van Eijk, Ruben P.A., Jones, Ashley R., Sproviero, William, Shatunov, Aleksey, Shaw, Pamela J., Leigh, P. Nigel, Young, Carolyn A., Shaw, Christopher E., Mora, Gabriele, Mandrioli, Jessica, Borghero, Giuseppe, Volanti, Paolo, Diekstra, Frank P., van Rheenen, Wouter, Verstraete, Esther, Eijkemans, Marinus J.C., Veldink, Jan H., Chio, Adriano, Al-Chalabi, Ammar, van den Berg, Leonard H., van Es, Michael A.
Magazine: Neurology

Titel: July 2017 ENCALS statement on edaravone
Auteur: Al-Chalabi, Ammar, Andersen, Peter M., Chandran, Siddharthan, Chio, Adriano, Corcia, Philippe, Couratier, Philippe, Danielsson, Olof, de Carvalho, Mamede, Desnuelle, Claude, Grehl, Torsten, Grosskreutz, Julian, Holmøy, Trygve, Ingre, Caroline, Karlsborg, Merete, Kleveland, Grethe, Christoph Koch, Jan, Koritnik, Blaz, KuzmaKozakiewicz, Magdalena, Laaksovirta, Hannu, Ludolph, Albert, McDermott, Christopher, Meyer, Thomas, Mitre Ropero, Bernardo, Mora Pardina, Jesus, Nygren, Ingela, Petri, Susanne
Magazine: Amyotroph Lateral Scler Frontotemporal Degener

Titel: Cortical thickness in ALS: towards a marker for upper motor neuron involvement
Auteur: Walhout R, Westeneng HJ, Verstraete E, Hendrikse J, Veldink JH, van den Heuvel MP*, van den Berg LH
Magazine: Journal of Neurology

Titel: Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort
Auteur: Van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP
Magazine: Brain

Titel: Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes.
Auteur: de Jong S, van Eijk KR, Zeegers DW, Strengman E, Janson E, Veldink JH, van den Berg LH, Cahn W, Kahn RS, Boks MP, Ophoff RA; The PGC Schizophrenia (GWAS) Consortium.
Magazine: European Journal of Human Genetics

Titel: Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure?
Auteur: van Eijk, Ruben P. A., Eijkemans, Marinus J. C., Nikolakopoulos, Stavros, Jansen, Marc D., Westeneng, Henk-Jan, van Eijk, Kristel R., van der Spek, Rick A. A., van Vugt, Joke J. F. A., Piepers, Sanne, Groeneveld, Geert-Jan, Veldink, Jan H., van den Berg, Leonard H., van Es, Michael A.
Magazine: Pharmacogenomics Journal

Titel: Comparing methods to combine functional loss and mortality in clinical trials for amyotrophic lateral sclerosis
Auteur: van Eijk, Ruben P.A., Eijkemans, Marinus J.C., Rizopoulos, Dimitris, van den Berg, Leonard H., Nikolakopoulos, Stavros
Magazine: Journal of Clinical Epidemiology

Titel: Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Auteur: van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP.
Magazine: Brain

Titel: A cluster RCT of case management on patients’ quality of life and caregiver strain in ALS.
Auteur: Creemers H, Veldink JH, Grupstra H, Nollet F, Beelen A, van den Berg LH
Magazine: Neurology

Titel: VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
Auteur: Koppers M, van Blitterswijk MM, Vlam L, Rowicka PA, van Vught PW, Groen EJ, Spliet WG, Engelen-Lee J, Schelhaas HJ, de Visser M, van der Kooi AJ, van der Pol WL, Pasterkamp RJ, Veldink JH*, van den Berg LH
Magazine: Neurobiology of Aging

Titel: DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts
Auteur: Zhernakova DV, de Klerk E, Westra HJ, Mastrokolias A, Amini S, Ariyurek Y, Jansen R, Penninx BW, Hottenga JJ, Willemsen G, de Geus EJ, Boomsma DI, Veldink JH, van den Berg LH, Wijmenga C, den Dunnen JT, van Ommen GJ, 't Hoen PA, Franke L.
Magazine: PLoS Genetics

Titel: Increasing the efficiency of clinical trials in neurodegenerative disorders using group sequential trial designs
Auteur: van Eijk, Ruben P.A., Nikolakopoulos, Stavros, Ferguson, Toby A., Liu, Dawei, Eijkemans, Marinus J.C., van den Berg, Leonard H.
Magazine: Journal of Clinical Epidemiology

Titel: “ALS reversals”: demographics, disease characteristics, treatments, and co-morbidities
Auteur: Harrison, Daniel, Mehta, Paul, van Es, Michael A., Stommel, Elijah, Drory, Vivian E., Nefussy, Beatrice, van den Berg, Leonard H., Crayle, Jesse, Bedlack, Richard
Magazine: Amyotroph Lateral Scler Frontotemporal Degener

Titel: DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
Auteur: Richard, Melissa A., Huan, Tianxiao, Ligthart, Symen, Gondalia, Rahul, Jhun, Min A., Brody, Jennifer A., Irvin, Marguerite R., Marioni, Riccardo, Shen, Jincheng, Tsai, Pei-Chien, Montasser, May E., Jia, Yucheng, Syme, Catriona, Salfati, Elias L., Boerwinkle, Eric, Guan, Weihua, Mosley, Thomas H., Bressler, Jan, Morrison, Alanna C., Liu, Chunyu, Mendelson, Michael M., Uitterlinden, André G., van Meurs, Joyce B., Franco, Oscar H., Zhang, Guosheng, Li, Yun, Stewart, James D., Bis, Joshua C., Psaty
Magazine: American Journal of Human Genetics

Titel: Lifetime physical activity and the risk of amyotrophic lateral sclerosis
Auteur: Huisman MH, Seelen M, de Jong SW, Dorresteijn KR, van Doormaal PT, van der Kooi AJ, de Visser M, Schelhaas HJ, Veldink JH*, van den Berg LH
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects
Auteur: Sudria-Lopez, Emma, Koppers, Max, de Wit, Marina, van der Meer, Christiaan, Westeneng, Henk-Jan, Zundel, Caroline A. C., Youssef, Sameh A., Harkema, Liesbeth, de Bruin, Alain, Veldink, Jan H., van den Berg, Leonard H., Pasterkamp, R. Jeroen
Magazine: Acta Neuropathologica

Titel: A. Factors related to caregiver strain in ALS: a longitudinal study
Auteur: Creemers H, de Morée S, Veldink JH, Nollet F, van den Berg LH, Beelen
Magazine: Journal of Neurol Neurosurg Psychiatry

Titel: Refined mapping of autoimmune disease associated genetic variants with gene expression suggests an important role for non-coding RNAs
Auteur: Ricaño-Ponce I, Zhernakova DV, Deelen P, Luo O, Li X, Isaacs A, Karjalainen J, Di Tommaso J, Borek ZA, Zorro MM, Gutierrez-Achury J, Uitterlinden AG, Hofman A, van Meurs J; BIOS consortium; Lifelines Cohort Study, Netea MG, Jonkers IH, Withoff S, van Duijn CM, Li Y, Ruan Y, Franke L, Wijmenga C, Kumar V.
Magazine: Journal of Autoimmunity

Titel: Sodium-potassium pump assessment by submaximal electrical nerve stimulation
Auteur: Hageman, Steven, Kovalchuk, Maria O., Sleutjes, Boudewijn T.H.M., van Schelven, Leonard J., van den Berg, Leonard H., Franssen, Hessel
Magazine: clinical neurophysiology

Titel: A case-control study of hormonal exposures as etiologic factors for ALS in women
Auteur: Rooney, James P.K., Visser, Anne E., D'Ovidio, Fabrizio, Vermeulen, Roel, Beghi, Ettore, Chio, Adriano, Veldink, Jan H., Logroscino, Giancarlo, van den Berg, Leonard H., Hardiman, Orla
Magazine: Neurology

Titel: Hypermetabolism in ALS is associated with greater functional decline and shorter survival
Auteur: Steyn, Frederik J, Ioannides, Zara A, van Eijk, Ruben P A, Heggie, Susan, Thorpe, Kathryn A, Ceslis, Amelia, Heshmat, Saman, Henders, Anjali K, Wray, Naomi R, van den Berg, Leonard H, Henderson, Robert D, McCombe, Pamela A, Ngo, Shyuan T
Magazine: Journal of Neurol Neurosurg Psychiatry

Titel: The multistep hypothesis of ALS revisited
Auteur: Chiò, Adriano, Mazzini, Letizia, D'Alfonso, Sandra, Corrado, Lucia, Canosa, Antonio, Moglia, Cristina, Manera, Umberto, Bersano, Enrica, Brunetti, Maura, Barberis, Marco, Veldink, Jan H., van den Berg, Leonard H., Pearce, Neil, Sproviero, William, McLaughlin, Russell, Vajda, Alice, Hardiman, Orla, Rooney, James, Mora, Gabriele, Calvo, Andrea, Al-Chalabi, Ammar
Magazine: Neurology

Titel: Two heads are better than one: benefits of joint models for ALS trials
Auteur: van Eijk, Ruben P A, Rooney, James, Hardiman, Orla, van den Berg, Leonard H
Magazine: Journal of Neuroly Neurosurgy Psychiatry.

Titel: VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
Auteur: van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.
Magazine: Neurobiology of Aging

Titel: Prose memory impairment in amyotrophic lateral sclerosis patients is related to hippocampus volume
Auteur: Raaphorst J, van Tol MJ, de Visser M, van der Kooi AJ, Majoie CB, van den Berg LH, Schmand B, Veltman DJ
Magazine: European Journal of Neurology

Titel: The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Auteur: Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC.
Magazine: Brain

Titel: Multicohort genomewide association study reveals a new signal of protection against HIV-1 acquisition.
Auteur: Limou S, Delaneau O, van Manen D, An P, Sezgin E, Le Clerc S, Coulonges C, Troyer JL, Veldink JH, van den Berg LH, Spadoni JL, Taing L, Labib T, Montes M, Delfraissy JF, Schachter F, O'Brien SJ, Buchbinder S, van Natta ML, Jabs DA, Froguel P, Schuitemaker H, Winkler CA, Zagury JF.
Magazine: Journal of Infectious Diseases

Titel: Primary lateral sclerosis: consensus diagnostic criteria
Auteur: Turner, Martin R, Barohn, Richard J, Corcia, Philippe, Fink, John K, Harms, Matthew B, Kiernan, Matthew C, Ravits, John, Silani, Vincenzo, Simmons, Zachary, Statland, Jeffrey, van den Berg, Leonard H, Mitsumoto, Hiroshi
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
Auteur: Project MinE ALS Sequencing Consortium.
Magazine: European Journal of Human Genetics

Titel: Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis.
Auteur: De Jong S, Huisman M, Sutedja N, van der Kooi A, de Visser M, Schelhaas J, van der Schouw Y, Veldink JH*, van den Berg LH
Magazine: Journal of Neurology

Titel: Participation restrictions in ambulatory amyotrophic lateral sclerosis patients: Physical and psychological factors
Auteur: Van Groenestijn, Annerieke C., Schröder, Carin D., Kruitwagen-Van Reenen, Esther T., Van Den Berg, Leonard H., Visser-Meily, Johanna M.A.
Magazine: Muscle and Nerve

Titel: Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain
Auteur: Kremer PH, Koeleman BP, Pawlikowska L, Weinsheimer S, Bendjilali N, Sidney S, Zaroff JG, Rinkel GJ, van den Berg LH, Ruigrok YM, de Kort GA, Veldink JH, Kim H, Klijn CJ.
Magazine: Journal of Neurology, Neurosurgery, and Psychiatry

Titel: Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner
Auteur: De Jong S, Chepelev I, Janson E, Strengman E, van den Berg LH, Veldink JH, Ophoff RA
Magazine: BMC Genomics

Titel: Exome sequencing in ALS identifies risk genes and pathways
Auteur: Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pu
Magazine: Science

Titel: Protein aggregation in amyotrophic lateral sclerosis.
Auteur: Blokhuis AM, Groen EJ, Koppers M, van den Berg LH, Pasterkamp RJ.
Magazine: Acta Neuropathologica

Titel: Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy.
Auteur: Kuitwaard K, van Doorn PA, Vermeulen M, van den Berg LH, Brusse E, van der Kooi AJ, van der Pol WL, van Schaik IN, Notermans N, Tio-Gillen AP, van Rijs W, van Gelder T, Jacobs BC.
Magazine: Journal of Neurology, Neurosurgery, and Psychiatry

Titel: Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
Auteur: van Eerde AM, Duran K, van Riel E, de Kovel CG, Koeleman BP, Knoers NV, Renkema KY, van der Horst HJ, Bökenkamp A, van Hagen JM, van den Berg LH, Wolffenbuttel KP, van den Hoek J, Feitz WF, de Jong TP, Giltay JC, Wijmenga C.
Magazine: PLoS ONE

Titel: A SNP panel for identification of DNA and RNA specimens
Auteur: Yousefi, Soheil, Abbassi-Daloii, Tooba, Kraaijenbrink, Thirsa, Vermaat, Martijn, Mei, Hailiang, van ‘t Hof, Peter, van Iterson, Maarten, Zhernakova, Daria V., Claringbould, Annique, Franke, Lude, ‘t Hart, Leen M., Slieker, Roderick C., van der Heijden, Amber, de Knijff, Peter, ’t Hoen, Peter A. C.
Magazine: BMC Genomics

Titel: Caregiver burden in amyotrophic lateral sclerosis: A systematic review
Auteur: de Wit, Jessica, Bakker, Leonhard A, van Groenestijn, Annerieke C, van den Berg, Leonard H, Schröder, Carin D, Visser-Meily, Johanna MA, Beelen, Anita
Magazine: Palliative Medicine

Titel: Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study.
Auteur: de Jong SW, Huisman MH, Sutedja NA, van der Kooi AJ, de Visser M, Schelhaas HJ, Fischer K, Veldink JH, van den Berg LH.
Magazine: American Journal of Epidemiology

Titel: Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.
Auteur: Deng M, Wei L, Zuo X, Tian Y, Xie F, Hu P, Zhu C, Yu F, Meng Y, Wang H, Zhang F, Ma H, Ye R, Cheng H, Du J, Dong W, Zhou S, Wang C, Wang Y, Wang J, Chen X, Sun Z, Zhou N, Jiang Y, Liu X, Li X, Zhang N, Liu N, Guan Y, Han Y, Han Y, Lv X, Fu Y, Yu H, Xi C, Xie D, Zhao Q, Xie P, Wang X, Zhang Z, Shen L, Cui Y, Yin X, Cheng H, Liang B, Zheng X, Lee TM, Chen G, Zhou F, Veldink JH, Robberecht W, Landers JE, Andersen PM, Al-Chalabi A, Shaw C, Liu C, Tang B, Xiao S, Robertson J, Zhang F, van den Berg LH
Magazine: Nature Genetics

Titel: No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy.
Auteur: Seelen M, Visser AE, Overste DJ, Kim HJ, Palud A, Wong TH, van Swieten JC, Scheltens P, Voermans NC, Baas F, de Jong JM, van der Kooi AJ, de Visser M, Veldink JH, Taylor JP, Van Es MA, van den Berg LH
Magazine: Neurobiology of Aging

Titel: Telehealth as part of specialized ALS care: feasibility and user experiences with “ALS home-monitoring and coaching”
Auteur: Helleman, Jochem, Van Eenennaam, Remko, Kruitwagen, Esther T., Kruithof, Willeke J., Slappendel, Marja J., Van Den Berg, Leonard H., Visser-Meily, Johanna M.A., Beelen, Anita
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
Auteur: Project MinE ALS Sequencing Consortium.
Magazine: European Journal of Human Genetics

Titel: Genetic and environmental influences interact with age and sex in shaping the human methylome.
Auteur: van Dongen J, Nivard MG, Willemsen G, Hottenga JJ, Helmer Q, Dolan CV, Ehli EA, Davies GE, van Iterson M, Breeze CE, Beck S; BIOS Consortium, Suchiman HE, Jansen R, van Meurs JB, Heijmans BT, Slagboom PE, Boomsma DI
Magazine: Nature Communications

Titel: . Systematic identification of trans eQTLs as putative drivers of known disease associations
Auteur: Westra HJ, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, Zhernakova A, Zhernakova DV, Veldink JH, Van den Berg LH, Karjalainen J, Withoff S, Uitterlinden AG, Hofman A, Rivadeneira F, 't Hoen PA, Reinmaa E, Fischer K, Nelis M, Milani L, Melzer D, Ferrucci L, Singleton AB, Hernandez DG, Nalls MA, Homuth G, Nauck M, Radke D, Völker U, Perola M, Salomaa V, Brody J, Suchy-Dicey A, Gharib SA, Enquobahrie DA, Lumley T, Montgomery GW, Makin
Magazine: Nature Genetics

Titel: Residential exposure to extremely low frequency electromagnetic fields and the risk of ALS
Auteur: Seelen M, Vermeulen RC, van Dillen LS, van der Kooi AJ, Huss A, de Visser M, Veldink JH*, van den Berg LH*.
Magazine: Neurology

Titel: Blood lipids influence DNA methylation in circulating cells
Auteur: Dekkers KF, van Iterson M, Slieker RC, Moed MH, Bonder MJ, van Galen M, Mei H, Zhernakova DV, van den Berg LH, Deelen J, van Dongen J, van Heemst D, Hofman A, Hottenga JJ, van der Kallen CJ, Schalkwijk CG, Stehouwer CD, Tigchelaar EF, Uitterlinden AG, Willemsen G, Zhernakova A, Franke L, 't Hoen PA, Jansen R, van Meurs J, Boomsma DI, van Duijn CM, van Greevenbroek MM, Veldink JH, Wijmenga C; BIOS Consortium, van Zwet EW, Slagboom PE, Jukema JW, Heijmans BT
Magazine: Genome Biology

Titel: The genetics and neuropathology of amyotrophic lateral sclerosis.
Auteur: Al-Chalabi A, Jones A, Troakes C, King A, Al-Sarraj S, van den Berg LH.
Magazine: Acta Neuropathologica

Titel: Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression.
Auteur: Fu J, Wolfs MG, Deelen P, Westra HJ, Fehrmann RS, Te Meerman GJ, Buurman WA, Rensen SS, Groen HJ, Weersma RK, van den Berg LH, Veldink J, Ophoff RA, Snieder H, van Heel D, Jansen RC, Hofker MH, Wijmenga C, Franke L.
Magazine: PLoS Genetics

Titel: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Auteur: Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P. P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G. J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M. H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B. A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., Ka
Magazine: European Journal of Human Genetics

Titel: The genetics and neuropathology of amyotrophic lateral sclerosis.
Auteur: Al-Chalabi A, Jones A, Troakes C, King A, Al-Sarraj S, van den Berg LH
Magazine: Acta Neuropathologica

Titel: Is the Frontal Assessment Battery reliable in ALS patients?
Auteur: Raaphorst, J., Beeldman, E., Jaeger, B., Schmand, B., van den Berg LH, Weikamp, J., Schelhaas, H.J., Visser, M.C. & Haan, R.J.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials
Auteur: van Eijk, Ruben P A, Nikolakopoulos, Stavros, Roes, Kit C B, Middelkoop, Bas M, Ferguson, Toby A, Shaw, Pamela J, Leigh, P Nigel, Al-Chalabi, Ammar, Eijkemans, Marinus J C, van den Berg, Leonard H
Magazine: Journal of Neuroly Neurosurgy Psychiatry.

Titel: Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
Auteur: Shi, Yingxiao, Lin, Shaoyu, Staats, Kim A, Li, Yichen, Chang, Wen-Hsuan, Hung, Shu-Ting, Hendricks, Eric, Linares, Gabriel R, Wang, Yaoming, Son, Esther Y, Wen, Xinmei, Kisler, Kassandra, Wilkinson, Brent, Menendez, Louise, Sugawara, Tohru, Woolwine, Phillip, Huang, Mickey, Cowan, Michael J, Ge, Brandon, Koutsodendris, Nicole, Sandor, Kaitlin P, Komberg, Jacob, Vangoor, Vamshidhar R, Senthilkumar, Ketharini, Hennes, Valerie, Seah, Carina, Nelson, Amy R, Cheng, Tze-Yuan, Lee, Shih-Jong J, August,
Magazine: Nature Medicine

Titel: Association of a Locus in the CAMTA1 gene with survival in patients with sporadic ALS
Auteur: Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chiò A, McLaughlin RL, Sorarù G, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D'Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, V
Magazine: JAMA Neurology

Titel: Identification of context-dependent expression quantitative trait loci in whole blood
Auteur: Zhernakova, Daria V, Deelen, Patrick, Vermaat, Martijn, van Iterson, Maarten, van Galen, Michiel, Arindrarto, Wibowo, van 't Hof, Peter, Mei, Hailiang, van Dijk, Freerk, Westra, Harm-Jan, Bonder, Marc Jan, van Rooij, Jeroen, Verkerk, Marijn, Jhamai, P Mila, Moed, Matthijs, Kielbasa, Szymon M, Bot, Jan, Nooren, Irene, Pool, René, van Dongen, Jenny, Hottenga, Jouke J, Stehouwer, Coen D A, van der Kallen, Carla J H, Schalkwijk, Casper G, Zhernakova, Alexandra, Li, Yang, Tigchelaar, Ettje F, de Kle
Magazine: Nature Genetics

Titel: Using patient-reported symptoms of dyspnea for screening reduced respiratory function in patients with motor neuron diseases
Auteur: Helleman, Jochem, Kruitwagen-van Reenen, Esther T., Bakers, J., Kruithof, Willeke J., van Groenestijn, Annerieke C., Jaspers Focks, Rineke J. H., de Grund, Arthur, van den Berg, Leonard H., Visser-Meily, Johanna M. A., Beelen, Anita
Magazine: Journal of Neurology

Titel: Correlation between structural and functional connectivity impairment in amyotrophic lateral sclerosis
Auteur: 203. Schmidt R, Verstraete E, de Reus MA, Veldink JH, van den Heuvel MP*, van den Berg LH
Magazine: Human Brain Mapping

Titel: Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis
Auteur: Bogaert E, Goris A, Van Damme P, Geelen V, Lemmens R, van Es MA, Van den Berg LH, Sleegers K, Verpoorten N, Timmerman V, Jonghe PD, Van Broeckhoven C, Traynor BJ, Landers JE, Brown RH Jr, Glass JD, Al-Chalabi A, Shaw CE, Birve A, Andersen PM, Slowik A, Tomik B, Melki J, Robberecht W, Van Den Bosch L
Magazine: Neurobiology of Aging

Titel: Epigenome-wide Association Study of Attention-Deficit/Hyperactivity Disorder Symptoms in Adults
Auteur: van Dongen, Jenny, Zilhão, Nuno R., Sugden, Karen, Hannon, Eilis J., Mill, Jonathan, Caspi, Avshalom, Agnew-Blais, Jessica, Arseneault, Louise, Corcoran, David L., Moffitt, Terrie E., Poulton, Richie, Franke, Barbara, Boomsma, Dorret I., Heijmans, Bastiaan T., ’t Hoen, Peter A.C., van Meurs, Joyce, Isaacs, Aaron, Jansen, Rick, Franke, Lude, Boomsma, Dorret I., Pool, René, van Dongen, Jenny, Hottenga, Jouke J., van Greevenbroek, Marleen M.J., Stehouwer, Coen D.A., van der Kallen, Carla J.H.,
Magazine: Biological Psychiatry

Titel: The Combined Assessment of Function and Survival (CAFS): A new endpoint for ALS clinical trials.
Auteur: Berry JD, Miller R, Moore DH, Cudkowicz ME, van den Berg LH, Kerr DA, Dong Y, Ingersoll EW, Archibald D.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS.
Auteur: Diekstra FP, Saris CG, van Rheenen W, Franke L, Jansen RC, van Es MA, van Vught PW, Blauw HM, Groen EJ, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Robberecht W, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH Jr, Shatunov A, Shaw CE, Leigh PN, Al-Chalabi A, Ophoff RA, Veldink JH*, van den Berg LH*.
Magazine: PLoS ONE

Titel: Monitoring disease progression with plasma creatinine in amyotrophic lateral sclerosis clinical trials
Auteur: van Eijk, Ruben P A, Eijkemans, Marinus J C, Ferguson, Toby A, Nikolakopoulos, Stavros, Veldink, Jan H, van den Berg, Leonard H
Magazine: Journal of Neurol Neurosurg Psychiatry

Titel: Trauma and amyotrophic lateral sclerosis: a case-control study from a population-based registry
Auteur: Pupillo E, Messina P, Logroscino G, Zoccolella S, Chiò A, Calvo A, Corbo M, Lunetta C, Micheli A, Millul A, Vitelli E, Beghi E; EURALS Consortium
Magazine: Journal of Neurology

Titel: Gene discovery in amyotrophic lateral sclerosis: implications for clinical management
Auteur: Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan
Magazine: Nature Reviews Neurology

Titel: Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.
Auteur: van Rheenen W, van Blitterswijk M, Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH, van den Berg LH.
Magazine: Neurology

Titel: Accelerometry for remote monitoring of physical activity in amyotrophic lateral sclerosis: a longitudinal cohort study
Auteur: van Eijk, Ruben P. A., Bakers, Jaap N. E., Bunte, Tommy M., de Fockert, Arianne J., Eijkemans, Marinus J. C., van den Berg, Leonard H.
Magazine: Journal of Neurology

Titel: Genetic Overlap between Apparently Sporadic Motor Neuron Diseases.
Auteur: van Blitterswijk M, Vlam L, van Es MA, van der Pol WL, Hennekam EA, Dooijes D, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.
Magazine: PLoS ONE

Titel: UNC13A is a modifier of survival in amyotrophic lateral sclerosis.
Auteur: Diekstra FP, van Vught PW, van Rheenen W, Koppers M, Pasterkamp RJ, van Es MA, Schelhaas HJ, de Visser M, Robberecht W, Van Damme P, Andersen PM, van den Berg LH, Veldink JH.
Magazine: Neurobiology of Aging

Titel: Increased paternal age and the influence on burden of genomic copy number variation in the general population.
Auteur: Buizer-Voskamp JE, Blauw HM, Boks MP, van Eijk KR, Veldink JH, Hennekam EA, Vorstman JA, Mulder F, Tiemeier H, Uitterlinden AG, Kiemeney LA, van den Berg LH, Kahn RS, Sabatti C, Ophoff RA
Magazine: Human Genetics

Titel: Comment: Plateaus and reversals in ALS disease course or limitations of trial design?
Auteur: van Eijk RP, van den Berg LH
Magazine: Neurology

Titel: Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis
Auteur: Ravits J, Appel S, Baloh RH, Barohn R, Brooks BR, Elman L, Floeter MK, Henderson C, Lomen-Hoerth C, Macklis JD, McCluskey L, Mitsumoto H, Przedborski S, Rothstein J, Trojanowski JQ, van den Berg LH, Ringel S.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS.
Auteur: Diekstra FP, Saris CG, van Rheenen W, Franke L, Jansen RC, van Es MA, van Vught PW, Blauw HM, Groen EJ, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Robberecht W, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH Jr, Shatunov A, Shaw CE, Leigh PN, Al-Chalabi A, Ophoff RA, van den Berg LH, Veldink JH.
Magazine: PLoS ONE

Titel: Detection of long repeat expansions from PCR-free whole-genome sequence data
Auteur: Dolzhenko, Egor, van Vugt, Joke J.F.A., Shaw, Richard J., Bekritsky, Mitchell A., van Blitterswijk, Marka, Narzisi, Giuseppe, Ajay, Subramanian S., Rajan, Vani, Lajoie, Bryan R., Johnson, Nathan H., Kingsbury, Zoya, Humphray, Sean J., Schellevis, Raymond D., Brands, William J., Baker, Matt, Rademakers, Rosa, Kooyman, Maarten, Tazelaar, Gijs H.P., van Es, Michael A., McLaughlin, Russell, Sproviero, William, Shatunov, Aleksey, Jones, Ashley, Al Khleifat, Ahmad, Pittman, Alan, Morgan, Sarah, Hardim
Magazine: Genome Research

Titel: Safety and efficacy of ozanezumab in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled, phase 2 trial
Auteur: Meininger, Vincent, Genge, Angela, van den Berg, Leonard H, Robberecht, Wim, Ludolph, Albert, Chio, Adriano, Kim, Seung H, Leigh, P Nigel, Kiernan, Matthew C, Shefner, Jeremy M, Desnuelle, Claude, Morrison, Karen E, Petri, Susanne, Boswell, Diane, Temple, Jane, Mohindra, Rajat, Davies, Matt, Bullman, Jonathan, Rees, Paul, Lavrov, Arseniy, Abdulla, Susanne, Alsop, Cathy, Barbieri, Francesca, Bates, Stewart, Berry, James D, Botez, Stephan A, Bruneteau, Gaelle, Calvo, Andrea, Camejo, Rodrigo Refoio
Magazine: Lancet Neurology

Titel: Subcortical structures in amyotrophic lateral sclerosis
Auteur: Westeneng HJ, Verstraete E, Walhout R, Schmidt R, Hendrikse J, Veldink JH, den Heuvel MP*, van den Berg LH
Magazine: Neurobiology of Aging

Titel: A framework for the detection of de novo mutations in family-based sequencing data
Auteur: Francioli, Laurent C, Cretu-Stancu, Mircea, Garimella, Kiran V, Fromer, Menachem, Kloosterman, Wigard P, Wijmenga, Cisca, Investigator, Principal, Swertz, Morris A, van Duijn, Cornelia M, Boomsma, Dorret I, Slagboom, PEline, van Ommen, Gertjan B, de Bakker, Paul IW, Swertz, Morris A, Francioli, Laurent C, van Dijk, Freerk, Menelaou, Androniki, Neerincx, Pieter BT, Pulit, Sara L, Deelen, Patrick, Elbers, Clara C, Francesco Palamara, Pier, Pe'er, Itsik, Abdellaoui, Abdel, Kloosterman, Wigard P, va
Magazine: European Journal of Human Genetics

Titel: A post hoc analysis of subgroup outcomes and creatinine in the phase III clinical trial (EMPOWER) of dexpramipexole in ALS
Auteur: Bozik ME, Mitsumoto H, Brooks BR, Rudnicki SA, Moore DH, Zhang B, Ludolph A, Cudkowicz ME, van den Berg LH, Mather J, Petzinger T Jr, Archibald D.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER): a randomised, double-blind, phase 3 trial.
Auteur: Cudkowicz ME, van den Berg LH, Shefner JM, Mitsumoto H, Mora JS, Ludolph A, Hardiman O, Bozik ME, Ingersoll EW, Archibald D, Meyers AL, Dong Y, Farwell WR, Kerr DA; for the EMPOWER investigators
Magazine: Lancet Neurology

Titel: Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis
Auteur: Beeldman, Emma, Govaarts, Rosanne, de Visser, Marianne, Klein Twennaar, Michelle, van der Kooi, Anneke J, van den Berg, Leonard H, Veldink, Jan H, Pijnenburg, Yolande A L, de Haan, Rob J, Schmand, Ben A, Raaphorst, Joost
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: Association between alcohol exposure and the risk of amyotrophic lateral sclerosis in the Euro-MOTOR study
Auteur: D'Ovidio, Fabrizio, Rooney, James P K, Visser, Anne E, Manera, Umberto, Beghi, Ettore, Logroscino, Giancarlo, Vermeulen, Roel C H, Veldink, Jan Herman, van den Berg, Leonard H, Hardiman, Orla, Chiò, Adriano
Magazine: Journal of Neurol Neurosurg Psychiatry

Titel: Genome-wide association analyses 1 identify new risk variants 2 and the genetic architecture of ALS
Auteur: Van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavac M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García
Magazine: Nature Genetics

Titel: Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3.
Auteur: Wadman RI, Vrancken AF, van den Berg LH, van der Pol WL.
Magazine: Neurology

Titel: Negative selection in humans and fruit flies involves synergistic epistasis
Auteur: Sohail, Mashaal, Vakhrusheva, Olga A., Sul, Jae Hoon, Pulit, Sara L., Francioli, Laurent C., van den Berg, Leonard H., Veldink, Jan H., de Bakker, Paul I. W., Bazykin, Georgii A., Kondrashov, Alexey S., Sunyaev, Shamil R.
Magazine: Science

Titel: Excitability tests using high-density surface-EMG: A novel approach to studying single motor units
Auteur: Sleutjes, Boudewijn T.H.M., Drenthen, Judith, Boskovic, Ernest, van Schelven, Leonard J., Kovalchuk, Maria O., Lumens, Paul G.E., van den Berg, Leonard H., Franssen, Hessel
Magazine: clinical neurophysiology

Titel: A linear mixed-model approach to study multivariate gene–environment interactions
Auteur: Moore, Rachel, Casale, Francesco Paolo, Jan Bonder, Marc, Horta, Danilo, Franke, Lude, Barroso, Inês, Stegle, Oliver
Magazine: Nature Genetics

Titel: Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3.
Auteur: Koppers M, Groen EJ, van Vught PW, van Rheenen W, Witteveen E, van Es MA, Pasterkamp RJ, Veldink JH, van den Berg LH.
Magazine: Neurobiology of Aging

Titel: Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subject
Auteur: Van Eijk KR, de Jong S, Boks MP, Langeveld T, Colas F, Veldink JH, de Kovel CG, Janson E, Strengman E, Langfelder P, Kahn RS, van den Berg LH, Horvath S, Ophoff RA.
Magazine: BMC Genomics

Titel: CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis.
Auteur: Groen EJ, van Rheenen W, Koppers M, van Doormaal PT, Vlam L, Diekstra FP, Dooijes D, Pasterkamp RJ, Veldink JH*, van den Berg LH*.
Magazine: Neurobiology of Aging

Titel: Assessment of the factorial validity and reliability of the ALSFRS-R: a revision of its measurement model
Auteur: Bakker, Leonhard A., Schröder, Carin D., van Es, Michael A., Westers, Paul, Visser-Meily, Johanna M. A., van den Berg, Leonard H.
Magazine: Journal of Neurology

Titel: Population genetic differentiation of height and body mass index across Europe
Auteur: Robinson MR, Hemani G, Medina-Gomez C, Mezzavilla M, Esko T, Shakhbazov K, Powell JE, Vinkhuyzen A, Berndt SI, Gustafsson S, Justice AE, Kahali B, Locke AE, Pers TH, Vedantam S, Wood AR, van Rheenen W, Andreassen OA, Gasparini P, Metspalu A, van den Berg LH, Veldink JH, Rivadeneira F, Werge TM, Abecasis GR, Boomsma DI, Chasman DI, de Geus EJ, Frayling TM, Hirschhorn JN, Hottenga JJ, Ingelsson E, Loos RJ, Magnusson PK, Martin NG, Montgomery GW, North KE, Pedersen NL, Spector TD, Speliotes EK, God
Magazine: Nature Genetics

Titel: Acute Effects of Riluzole and Retigabine on Axonal Excitability in Patients With Amyotrophic Lateral Sclerosis: A Randomized, Double-Blind, Placebo-Controlled, Crossover Trial
Auteur: Kovalchuk, Maria O., Heuberger, Jules A.A.C., Sleutjes, Boudewijn T.H.M., Ziagkos, Dimitrios, van den Berg, Leonard H., Ferguson, Toby A., Franssen, Hessel, Groeneveld, Geert Jan
Magazine: Clinical Pharmacology and Therapeutics

Titel: Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis
Auteur: Lees, John A., Ferwerda, Bart, Kremer, Philip H. C., Wheeler, Nicole E., Serón, Mercedes Valls, Croucher, Nicholas J., Gladstone, Rebecca A., Bootsma, Hester J., Rots, Nynke Y., Wijmega-Monsuur, Alienke J., Sanders, Elisabeth A. M., Trzcinski, Krzysztof, Wyllie, Anne L., Zwinderman, Aeilko H., van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Harboe, Zitta B., Lundbo, Lene F., de Groot, Lisette C. P. G. M., van Schoor, Natasja M., van der Velde, Nathalie, Ängquist, Lars H., Søre
Magazine: Nature Communications

Titel: Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.
Auteur: van Blitterswijk M, Blokhuis A, van Es MA, van Vught PW, Rowicka PA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.
Magazine: Neurobiology of Aging

Titel: The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis
Auteur: Tan, Harold H. G., Westeneng, Henk-Jan, Burgh, Hannelore K., Es, Michael A., Bakker, Leonhard A., Veenhuijzen, Kevin, Eijk, Kristel R., Eijk, Ruben P. A., Veldink, Jan H., Berg, Leonard H.
Magazine: Annals of Neurology

Titel: Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR
Auteur: Peters, Susan, Visser, Anne E, D'Ovidio, Fabrizio, Vlaanderen, Jelle, Portengen, Lützen, Beghi, Ettore, Chio, Adriano, Logroscino, Giancarlo, Hardiman, Orla, Pupillo, Elisabetta, Veldink, Jan H, Vermeulen, Roel, van den Berg, Leonard H
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: A. Prognostic factors for the course of functional status of patients with ALS: a systematic review
Auteur: Creemers H, Grupstra H, Nollet F, van den Berg LH, Beelen
Magazine: Journal of Neurology

Titel: Serotonin 2B receptor slows disease progression and prevents degeneration of spinal cord mononuclear phagocytes in amyotrophic lateral sclerosis
Auteur: El Oussini, Hajer, Bayer, Hanna, Scekic-Zahirovic, Jelena, Vercruysse, Pauline, Sinniger, Jérôme, Dirrig-Grosch, Sylvie, Dieterlé, Stéphane, Echaniz-Laguna, Andoni, Larmet, Yves, Müller, Kathrin, Weishaupt, Jochen H., Thal, Dietmar R., van Rheenen, Wouter, van Eijk, Kristel, Lawson, Roland, Monassier, Laurent, Maroteaux, Luc, Roumier, Anne, Wong, Philip C., van den Berg, Leonard H., Ludolph, Albert C., Veldink, Jan H., Witting, Anke, Dupuis, Luc
Magazine: Acta Neuropathologica

Titel: The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS.
Auteur: Raaphorst J, Beeldman E, Schmand B, Berkhout J, Linssen WH, van den Berg LH, Pijnenburg YA, Grupstra HF, Weikamp JG, Schelhaas HJ, Papma JM, van Swieten JC, de Visser M, de Haan RJ.
Magazine: Neurology

Titel: Sensorimotor ECoG Signal Features for BCI Control: A Comparison Between People With Locked-In Syndrome and Able-Bodied Controls
Auteur: Freudenburg, Zachary V., Branco, Mariana P., Leinders, Sacha, Vijgh, Benny H. van der, Pels, Elmar G. M., Denison, Timothy, Berg, Leonard H. van den, Miller, Kai J., Aarnoutse, Erik J., Ramsey, Nick F., Vansteensel, Mariska J.
Magazine: Frontiers in Human Neuroscience

Titel: UNC13A is a modifier of survival in amyotrophic lateral sclerosis
Auteur: Diekstra FP, van Vught PW, van Rheenen W, Koppers M, Pasterkamp RJ, van Es MA, Schelhaas HJ, de Visser M, Robberecht W, Van Damme P, Andersen PM, Veldink JH*,
Magazine: Neurobiology of Aging

Titel: A characterization of cis- and trans-heritability of RNA-Seq-based gene expression
Auteur: Ouwens, Klaasjan G., Jansen, Rick, Nivard, Michel G., van Dongen, Jenny, Frieser, Maia J., Hottenga, Jouke-Jan, Arindrarto, Wibowo, Claringbould, Annique, van Iterson, Maarten, Mei, Hailiang, Franke, Lude, Heijmans, Bastiaan T., A. C. ’t Hoen, Peter, van Meurs, Joyce, Brooks, Andrew I., Penninx, Brenda W. J. H., Boomsma, Dorret I.
Magazine: European Journal of Human Genetics

Titel: Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.
Auteur: de Jong S, Chepelev I, Janson E, Strengman E, van den Berg LH, Veldink JH, Ophoff RA.
Magazine: BMC Genomics

Titel: Mutational analysis of TARDBP in Parkinson's disease.
Auteur: van Blitterswijk M, van Es MA, Verbaan D, van Hilten JJ, Scheffer H, van de Warrenburg BP, Veldink JH, van den Berg LH.
Magazine: Neurobiology of Aging

Titel: Development and assessment of the inter-rater and intra-rater reproducibility of a self-administration version of the ALSFRS-R
Auteur: Bakker, Leonhard A, Schröder, Carin D, Tan, Harold H G, Vugts, Simone M A G, van Eijk, Ruben P A, van Es, Michael A, Visser-Meily, Johanna M A, van den Berg, Leonard H
Magazine: Journal of Neuroly Neurosurgy Psychiatry.

Titel: Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways
Auteur: Blokhuis, Anna M., Koppers, Max, Groen, Ewout J. N., van den Heuvel, Dianne M. A., Dini Modigliani, Stefano, Anink, Jasper J., Fumoto, Katsumi, van Diggelen, Femke, Snelting, Anne, Sodaar, Peter, Verheijen, Bert M., Demmers, Jeroen A. A., Veldink, Jan H., Aronica, Eleonora, Bozzoni, Irene, den Hertog, Jeroen, van den Berg, Leonard H., Pasterkamp, R. Jeroen
Magazine: Acta Neuropathologica

Titel: WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene
Auteur: Nersisyan, Lilit, Nikoghosyan, Maria, Arakelyan, Arsen
Magazine: Scientific Reports

Titel: Implications of spirometric reference values for ALS
Auteur: 9. van Eijk RPA, Bakers JNE, van Es MA, Eijkemans MJC, van den Berg LH
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis.
Auteur: Groen EJ, van Rheenen W, Koppers M, van Doormaal PT, Vlam L, Diekstra FP, Dooijes D, Pasterkamp RJ, van den Berg LH, Veldink JH.
Magazine: Neurobiology of Aging

Titel: Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy.
Auteur: Vlam L, Schelhaas HJ, van Blitterswijk M, van Vught PW, de Visser M, van der Kooi AJ, van der Pol WL, van den Berg LH.
Magazine: Archives of Neurology

Titel: Association Study of Common Genetic Variants and HIV-1 Acquisition in 6,300 Infected Cases and 7,200 Controls
Auteur: McLaren PJ, Coulonges C, Ripke S, van den Berg LH, Buchbinder S, Carrington M, Cossarizza A, Dalmau J, Deeks SG, Delaneau O, De Luca A, Goedert JJ, Haas D, Herbeck JT, Kathiresan S, Kirk GD, Lambotte O, Luo M, Mallal S, van Manen D, Martinez-Picado J, Meyer L, Miro JM, Mullins JI, Obel N, O'Brien SJ, Pereyra F, Plummer FA, Poli G, Qi Y, Rucart P, Sandhu MS, Shea PR, Schuitemaker H, Theodorou I, Vannberg F, Veldink J, Walker BD, Weintrob A, Winkler CA, Wolinsky S, Telenti A, Goldstein DB, de Bakk
Magazine: PLoS Pathogens

Titel: Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation
Auteur: Luijk, René, Wu, Haoyu, Ward-Caviness, Cavin K, Hannon, Eilis, Carnero-Montoro, Elena, Min, Josine L., Mandaviya, Pooja, Müller-Nurasyid, Martina, Mei, Hailiang, van der Maarel, Silvere M., Relton, Caroline, Mill, Jonathan, Waldenberger, Melanie, Bell, Jordana T., Jansen, Rick, Zhernakova, Alexandra, Franke, Lude, ‘t Hoen, Peter A. C., Boomsma, Dorret I., van Duijn, Cornelia M., van Greevenbroek, Marleen M. J., Veldink, Jan H., Wijmenga, Cisca, van Meurs, Joyce, Daxinger, Lucia, Slagboom, P.
Magazine: Nature Communications

Titel: Validated inference of smoking habits from blood with a finite DNA methylation marker set
Auteur: Maas, Silvana C. E., Vidaki, Athina, Wilson, Rory, Teumer, Alexander, Liu, Fan, van Meurs, Joyce B. J., Uitterlinden, André G., Boomsma, Dorret I., de Geus, Eco J. C., Willemsen, Gonneke, van Dongen, Jenny, van der Kallen, Carla J. H., Slagboom, P. Eline, Beekman, Marian, van Heemst, Diana, van den Berg, Leonard H., Duijts, Liesbeth, Jaddoe, Vincent W. V., Ladwig, Karl-Heinz, Kunze, Sonja, Peters, Annette, Ikram, M. Arfan, Grabe, Hans J., Felix, Janine F., Waldenberger, Melanie, Franco, Oscar H
Magazine: European Journal of Epidemiology

Titel: Drug treatment for spinal muscular atrophy types II and III.
Auteur: Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF.
Magazine: The Cochrane database of systematic reviews

Titel: Addressing heterogeneity in amyotrophic lateral sclerosis CLINICAL TRIALS
Auteur: Goyal, Namita A., Berry, James D., Windebank, Anthony, Staff, Nathan P., Maragakis, Nicholas J., Berg, Leonard H., Genge, Angela, Miller, Robert, Baloh, Robert H., Kern, Ralph, Gothelf, Yael, Lebovits, Chaim, Cudkowicz, Merit
Magazine: Muscle and Nerve

Titel: SMN1 gene duplications are associated with sporadic ALS.
Auteur: Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH.
Magazine: Neurology

Titel: Hexanucleotide repeat expansions in C9orf72 in the spectrum of motor neuron diseases
Auteur: Van Rheenen W, van Blitterswijk M, Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH*, van den Berg LH
Magazine: Neurology

Titel: Association of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case-control study.
Auteur: Vlam L, Piepers S, Sutedja NA, Jacobs BC, Tio-Gillen AP, Stam M, Franssen H, Veldink JH, Cats EA, Notermans NC, Bloem AC, Wadman RI, van der Pol WL, van den Berg LH.
Magazine: Journal of Neurology

Titel: Prefrontal involvement related to cognitive impairment in progressive muscular atrophy
Auteur: Raaphorst J, van Tol MJ, Groot PF, Altena E, van der Werf YD, Majoie CB, van der Kooi AJ, van den Berg LH, Schmand B, de Visser M, Veltman DJ.
Magazine: Neurology

Titel: Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
Auteur: 140. Van Leeuwen EM, Karssen LC, Deelen J, Isaacs A, Medina-Gomez C, Mbarek H, Kanterakis A, Trompet S, Postmus I, Verweij N, van Enckevort DJ, Huffman JE, White CC, Feitosa MF, Bartz TM, Manichaikul A, Joshi PK, Peloso GM, Deelen P, van Dijk F, Willemsen G, de Geus EJ, Milaneschi Y, Penninx BW, Francioli LC, Menelaou A, Pulit SL, Rivadeneira F, Hofman A, Oostra BA, Franco OH, Mateo Leach I, Beekman M, de Craen AJ, Uh HW, Trochet H, Hocking LJ, Porteous DJ, Sattar N, Packard CJ, Buckley BM, Brod
Magazine: Nature Communications

Titel: Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials
Auteur: van den Berg, Leonard H., Sorenson, Eric, Gronseth, Gary, Macklin, Eric A., Andrews, Jinsy, Baloh, Robert H., Benatar, Michael, Berry, James D., Chio, Adriano, Corcia, Philippe, Genge, Angela, Gubitz, Amelie K., Lomen-Hoerth, Catherine, McDermott, Christopher J., Pioro, Erik P., Rosenfeld, Jeffrey, Silani, Vincenzo, Turner, Martin R., Weber, Markus, Brooks, Benjamin Rix, Miller, Robert G., Mitsumoto, Hiroshi
Magazine: Neurology

Titel: Refining eligibility criteria for amyotrophic lateral sclerosis clinical trials
Auteur: van Eijk, Ruben P.A., Westeneng, Henk-Jan, Nikolakopoulos, Stavros, Verhagen, Iris E., van Es, Michael A., Eijkemans, Marinus J.C., van den Berg, Leonard H.
Magazine: Neurology

Titel: The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, ALS, and Parkinson's disease.
Auteur: Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, Forsgren L, Kirchheiner J, Kurz A, Larsen JP, Liebsch M, Linder J, Morrison KE, Nissbrandt H, Otto M, Pahnke J, Partch A, Restagno G, Rujescu D, Schnack C, Shaw CE, Shaw PJ, Tumani H, Tysnes OB, Valladares O, Silani V, van den Berg LH, van Rheenen W, Veldink JH, Lindenberger U, Steinhagen-Thiessen E; SLAGEN Consortium, Teipel S, Perneczky
Magazine: Alzheimer's & Dementia

Titel: EURALS Consortium. Trauma and amyotrophic lateral sclerosis: a case-control study from a population-based registry
Auteur: Pupillo E, Messina P, Logroscino G, Zoccolella S, Chiò A, Calvo A, Corbo M, Lunetta C, Micheli A, Millul A, Vitelli E, Beghi E
Magazine: European Journal of Neurology

Titel: Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients
Auteur: Van Blitterswijk M, van Vught PW, van Es MA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH*, van den Berg LH
Magazine: Neurobiology of Aging

Titel: A reference panel of 64,976 haplotypes for genotype imputation.
Auteur: McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, Vrieze S, Scott LJ, Zhang H, Mahajan A, Veldink J, Peters U, Pato C, van Duijn CM, Gillies CE, Gandin I, Mezzavilla M, Gilly A, Cocca M, Traglia M, Angius A, Barrett JC, Boomsma D, Branham K, Breen G, Brummett CM, Busonero F, Campbell H, Chan A, Chen S, Chew E, Collins FS, Corbin LJ, Smith GD, Dedoussis G, Dorr M, Farmaki AE, Ferrucci L, Fo
Magazine: Nature Genetics

Titel: DNA methylation signatures of educational attainment
Auteur: van Dongen, Jenny, Bonder, Marc Jan, Dekkers, Koen F., Nivard, Michel G., van Iterson, Maarten, Willemsen, Gonneke, Beekman, Marian, van der Spek, Ashley, van Meurs, Joyce B. J., Franke, Lude, Heijmans, Bastiaan T., van Duijn, Cornelia M., Slagboom, P. Eline, Boomsma, Dorret I.
Magazine: NPJ Prim Care Respir Med

Titel: Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
Auteur: McLaughlin, Russell L., Schijven, Dick, van Rheenen, Wouter, van Eijk, Kristel R., O’Brien, Margaret, Kahn, René S., Ophoff, Roel A., Goris, An, Bradley, Daniel G., Al-Chalabi, Ammar, van den Berg, Leonard H., Luykx, Jurjen J., Hardiman, Orla, Veldink, Jan H., Shatunov, Aleksey, Dekker, Annelot M., Diekstra, Frank P., Pulit, Sara L., van der Spek, Rick A. A., van Doormaal, Perry T. C., Sproviero, William, Jones, Ashley R., Nicholson, Garth A., Rowe, Dominic B., Pamphlett, Roger, Kiernan, Matt
Magazine: Nature Communications

Titel: Lifetime physical activity and the risk of amyotrophic lateral sclerosis.
Auteur: Huisman MH, Seelen M, de Jong SW, Dorresteijn KR, van Doormaal PT, van der Kooi AJ, de Visser M, Schelhaas HJ, Veldink JH,van den Berg LH
Magazine: Journal of Neurology, Neurosurgery, and Psychiatry

Titel: Loss of appetite is associated with a loss of weight and fat mass in patients with ALS
Auteur: Ngo ST, van Eijk RPA, Chachay V, van den Berg LH, McCombe PA, Henderson RD, Steyn FJ
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
Auteur: Koppers M, van Blitterswijk MM, Vlam L, Rowicka PA, van Vught PW, Groen EJ, Spliet WG, Engelen-Lee J, Schelhaas HJ, de Visser M, van der Kooi AJ, van der Pol WL, Pasterkamp RJ, Veldink JH, van den Berg LH.
Magazine: Neurobiology of Aging

Titel: A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Auteur: Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, Dejesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen P
Magazine: Journal of Medical Genetics

Titel: Treatment of respiratory impairment in patients with motor neuron disease in the Netherlands: patient preference and timing of referral.
Auteur: Raaphorst J, Tuijp J, Verweij L, Westermann EJ, van der Kooi AJ, Gaytant MA, van den Berg LH, de Visser M, Kampelmacher MJ.
Magazine: European Journal of Neurology

Titel: Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’
Auteur: Deelen P, Menelaou A, van Leeuwen EM, Kanterakis A, van Dijk F, Medina-Gomez C, Francioli LC, Hottenga JJ, Karssen LC, Estrada K, Kreiner-Møller E, Rivadeneira F, van Setten J, Gutierrez-Achury J, Westra HJ, Franke L, van Enckevort D, Dijkstra M, Byelas H, van Duijn CM; Genome of Netherlands Consortium, de Bakker PI, Wijmenga C, Swertz MA.
Magazine: Journal of Human Genetics

Titel: Multimodal tract-based analysis in ALS patients at 7T: a specific white matter profile
Auteur: Verstraete E, Polders DL, Mandl RC, Van Den Heuvel MP, Veldink JH, Luijten P, van den Berg LH, Hoogduin J.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
Auteur: Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G., Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L., Mazzanti, Andrea, Beckmann, Britt M., Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D., Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E.,
Magazine: Circulation

Titel: Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Auteur: ALSGEN Consortium, Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY; ITALSGEN consortium, Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris
Magazine: Neurobiology of Aging

Titel: a randomised, double-blind, phase 3 trial.
Auteur: Cudkowicz ME, van den Berg LH, Shefner JM, Mitsumoto H, Mora JS, Ludolph A, Hardiman O, Bozik ME, Ingersoll EW, Archibald D, Meyers AL, Dong Y, Farwell WR, Kerr DA; for the EMPOWER investigators. Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER)
Magazine: Lancet Neurology

Titel: A neuropsychological and behavioral study of PLS
Auteur: de Vries BS, Spreij LA, Rustemeijer LMM, Bakker LA, Veldink JH, van den Berg LH, Nijboer TCW, van Es MA.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
Auteur: Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats KA, Laird AS, Peeters E, Philips T, Goris A, Dubois B, Andersen PM, Al-Chalabi A, Thijs V, Turnley AM, van Vught PW, Veldink JH, Hardiman O, Van Den Bosch L, Gonzalez-Perez P, Van Damme P, Brown RH Jr, van den Berg LH, Robberecht W
Magazine: Nature Medicine

Titel: Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis.
Auteur: de Jong S, Huisman M, Sutedja N, van der Kooi A, de Visser M, Schelhaas J, van der Schouw Y, Veldink J, van den Berg LH.
Magazine: Journal of Neurology

Titel: ATXN2 trinucleotide repeat length correlates with risk of ALS
Auteur: Sproviero, William, Shatunov, Aleksey, Stahl, Daniel, Shoai, Maryam, van Rheenen, Wouter, Jones, Ashley R., Al-Sarraj, Safa, Andersen, Peter M., Bonini, Nancy M., Conforti, Francesca L., Van Damme, Philip, Daoud, Hussein, Del Mar Amador, Maria, Fogh, Isabella, Forzan, Monica, Gaastra, Ben, Gellera, Cinzia, Gitler, Aaron D., Hardy, John, Fratta, Pietro, La Bella, Vincenzo, Le Ber, Isabelle, Van Langenhove, Tim, Lattante, Serena, Lee, Yi-Chung, Malaspina, Andrea, Meininger, Vincent, Millecamps, St
Magazine: Neurobiology of Aging

Titel: Prognostic factors for the course of functional status of patients with ALS: a systematic review
Auteur: Creemers H, Grupstra H, Nollet F, van den Berg LH, Beelen A
Magazine: Journal of Neurology

Titel: Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes
Auteur: De Jong S, van Eijk KR, Zeegers DW, Strengman E, Janson E, Veldink JH, van den Berg LH, Cahn W, Kahn RS, Boks MP, Ophoff RA; The PGC Schizophrenia (GWAS) Consortium.
Magazine: Journal of Human Genetics

Titel: Critical issues in ALS case-control studies: the case of the Euro-MOTOR study
Auteur: D’Ovidio, Fabrizio, Rooney, James P. K., Visser, Anne E., Vermeulen, Roel C. H., Veldink, Jan H., Van Den Berg, Leonard H., Hardiman, Orla, Logroscino, Giancarlo, Chiò, Adriano, Beghi, Ettore
Magazine: Amyotroph Lateral Scler Frontotemporal Degener

Titel: The El Escorial criteria: Strengths and weaknesses
Auteur: Agosta F, Al-Chalabi A, Filippi M, Hardiman O, Kaji R, Meininger V, Nakano I, Shaw P, Shefner J, van den Berg LH, Ludolph A; The WFN Research Group on ALS/MND
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Auteur: van Rheenen, Wouter, Shatunov, Aleksey, Dekker, Annelot M, McLaughlin, Russell L, Diekstra, Frank P, Pulit, Sara L, van der Spek, Rick A A, Võsa, Urmo, de Jong, Simone, Robinson, Matthew R, Yang, Jian, Fogh, Isabella, van Doormaal, Perry TC, Tazelaar, Gijs H P, Koppers, Max, Blokhuis, Anna M, Sproviero, William, Jones, Ashley R, Kenna, Kevin P, van Eijk, Kristel R, Harschnitz, Oliver, Schellevis, Raymond D, Brands, William J, Medic, Jelena, Menelaou, Androniki, Vajda, Alice, Ticozzi, Nicola, Li
Magazine: Nature Genetics

Titel: Drug treatment for spinal muscular atrophy type I.
Auteur: Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF.
Magazine: The Cochrane database of systematic reviews

Titel: Disease variants alter transcription factor levels and methylation of their binding sites
Auteur: Bonder, Marc Jan, Luijk, René, Zhernakova, Daria V, Moed, Matthijs, Deelen, Patrick, Vermaat, Martijn, van Iterson, Maarten, van Dijk, Freerk, van Galen, Michiel, Bot, Jan, Slieker, Roderick C, Jhamai, P Mila, Verbiest, Michael, Suchiman, H Eka D, Verkerk, Marijn, van der Breggen, Ruud, van Rooij, Jeroen, Lakenberg, Nico, Arindrarto, Wibowo, Kielbasa, Szymon M, Jonkers, Iris, van 't Hof, Peter, Nooren, Irene, Beekman, Marian, Deelen, Joris, van Heemst, Diana, Zhernakova, Alexandra, Tigchelaar,
Magazine: Nature Genetics

Titel: . EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans.
Auteur: Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats KA, Laird AS, Peeters E, Philips T, Goris A, Dubois B, Andersen PM, Al-Chalabi A, Thijs V, Turnley AM, van Vught PW, Veldink JH, Hardiman O, Van Den Bosch L, Gonzalez-Perez P, Van Damme P, Brown RH Jr, van den Berg LH, Robberecht W.
Magazine: Nature Medicine

Titel: Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.
Auteur: Van Doormaal PT, Ticozzi N, Gellera C, Ratti A, Taroni F, Chiò A, Calvo A, Mora G, Restagno G, Traynor BJ, Birve A, Lemmens R, van Es MA, Saris CG, Blauw HM, van Vught PW, Groen EJ, Corrado L, Mazzini L, Del Bo R, Corti S, Waibel S, Meyer T, Ludolph AC, Goris A, van Damme P, Robberecht W, Shatunov A, Fogh I, Andersen PM, D'Alfonso S, Hardiman O, Cronin S, Rujescu D, Al-Chalabi A, Landers JE, Silani V, Veldink JH*, van den Berg LH*.
Magazine: Neurobiology of Aging

Titel: Associations between psychological factors and health-related quality of life and global quality of life in patients with ALS: a systematic review
Auteur: Van Groenestijn AC, Kruitwagen-van Reenen ET, Visser-Meily JM, van den Berg LH, Schröder CD
Magazine: Health and Quality of Life Outcomes

Titel: Blended psychosocial support for partners of patients with ALS and PMA: results of a randomized controlled trial
Auteur: De Wit, Jessica, Beelen, Anita, Drossaert, Constance H. C., Kolijn, Ruud, Van Den Berg, Leonard H., SchrÖder, Carin D., Visser-Meily, Johanna M. A.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis.
Auteur: Ravits J, Appel S, Baloh RH, Barohn R, Brooks BR, Elman L, Floeter MK, Henderson C, Lomen-Hoerth C, Macklis JD, McCluskey L, Mitsumoto H, Przedborski S, Rothstein J, Trojanowski JQ, van den Berg LH, Ringel S.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis
Auteur: Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH.
Magazine: Human Molecular Genetics

Titel: Systematic identification of trans eQTLs as putative drivers of known disease associations.
Auteur: Westra HJ, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, Zhernakova A, Zhernakova DV, Veldink JH, Van den Berg LH, Karjalainen J, Withoff S, Uitterlinden AG, Hofman A, Rivadeneira F, 't Hoen PA, Reinmaa E, Fischer K, Nelis M, Milani L, Melzer D, Ferrucci L, Singleton AB, Hernandez DG, Nalls MA, Homuth G, Nauck M, Radke D, Völker U, Perola M, Salomaa V, Brody J, Suchy-Dicey A, Gharib SA, Enquobahrie DA, Lumley T, Montgomery GW, Makin
Magazine: Nature Genetics

Titel: A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Auteur: Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD,
Magazine: Human Molecular Genetics

Titel: A proposal for new diagnostic criteria for ALS
Auteur: Shefner, Jeremy M., Al-Chalabi, Ammar, Baker, Mark R., Cui, Li-Ying, de Carvalho, Mamede, Eisen, Andrew, Grosskreutz, Julian, Hardiman, Orla, Henderson, Robert, Matamala, Jose Manuel, Mitsumoto, Hiroshi, Paulus, Walter, Simon, Neil, Swash, Michael, Talbot, Kevin, Turner, Martin R., Ugawa, Yoshikazu, van den Berg, Leonard H., Verdugo, Renato, Vucic, Steven, Kaji, Ryuji, Burke, David, Kiernan, Matthew C.
Magazine: clinical neurophysiology

Titel: Safety and tolerability of Triumeq in amyotrophic lateral sclerosis: the Lighthouse trial.
Auteur: 6. Gold J, Rowe DB, Kiernan MC, Vucic S, Mathers S, van Eijk RPA, Nath A, Garcia Montojo M, Norato G, Santamaria UA, Rogers ML, Malaspina A, Lombardi V, Mehta PR, Westeneng HJ, van den Berg LH, Al-Chalabi A.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Multicentre, population-based, case–control study of particulates, combustion products and amyotrophic lateral sclerosis risk
Auteur: Visser, Anne E, D'Ovidio, Fabrizio, Peters, Susan, Vermeulen, Roel CH, Beghi, Ettore, Chiò, Adriano, Veldink, Jan H, Logroscino, Giancarlo, Hardiman, Orla, van den Berg, Leonard H
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: Whole-genome sequence variation, population structure and demographic history of the Dutch population
Auteur: Genome of the Netherlands Consortium.
Magazine: Nature Genetics

Titel: Structural brain network imaging shows expanding disconnection of the motor system in amyotrophic lateral sclerosis.
Auteur: Verstraete E, Veldink JH, van den Berg LH, van den Heuvel MP.
Magazine: Human Brain Mapping

Titel: NEK1 variants confer susceptibility to ALS
Auteur: Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN C
Magazine: Nature Genetics

Titel: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
Auteur: Van Rheenen W, Diekstra FP, Veldink JH*, van den Berg LH
Magazine: Brain

Titel: Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis
Auteur: Dekker, Annelot M., Diekstra, Frank P., Pulit, Sara L., Tazelaar, Gijs H. P., van der Spek, Rick A., van Rheenen, Wouter, van Eijk, Kristel R., Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C., Weishaupt, Jochen H., Pardina, Jesus S. Mora, van den Berg, Leonard H., Veldink, Jan H.
Magazine: science reports

Titel: ALS as a multi-step process: an Australia population study.
Auteur: Vucic S, Westeneng HJ, Al-Chalabi A, van den Berg LH, Talman P, Kiernan MC.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: MMN: From Immunological Cross-Talk to Conduction Block
Auteur: Oliver Harschnitz, Bas A. Jongbloed, Hessel Franssen, Dirk C. G Straver, W. Ludo van der Pol, Leonard H. van den Berg

Titel: The frontotemporal syndrome of ALS is associated with poor survival
Auteur: Govaarts R, Beeldman E, Kampelmacher MJ, van Tol MJ, van den Berg LH, van der Kooi AJ, Wijkstra PJ, Zijnen-Suyker M, Cobben NA, Schmand BA, de Haan RJ, de Visser M, Raaphorst
Magazine: Journal of Neurology

Titel: Simulating disease propagation across white matter connectome reveals anatomical substrate for neuropathology staging in amyotrophic lateral sclerosis
Auteur: Schmidt, Ruben, de Reus, Marcel A., Scholtens, Lianne H., van den Berg, Leonard H., van den Heuvel, Martijn P.
Magazine: Neuroimage

Titel: Genetic overlap between apparently sporadic motor neuron diseases
Auteur: Van Blitterswijk M, Vlam L, van Es MA, van der Pol WL, Hennekam EA, Dooijes D, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH*, van den Berg LH
Magazine: PLoS ONE

Titel: Replication Study and Meta-Analysis in European Samples Supports Association of the 3p21.1 Locus with Bipolar Disorder.
Auteur: Vassos E, Steinberg S, Cichon S, Breen G, Sigurdsson E, Andreassen OA, Djurovic S, Morken G, Grigoroiu-Serbanescu M, Diaconu CC, Czerski PM, Hauser J, Babadjanova G, Abramova LI, Mühleisen TW, Nöthen MM, Rietschel M, McGuffin P, Clair DS, Gustafsson O, Melle I, Pietiläinen OP, Ruggeri M, Tosato S, Werge T, Ophoff RA; GROUP Consortium, Rujescu D, Børglum AD, Mors O, Mortensen PB, Demontis D, Hollegaard MV, van Winkel R, Kenis G, De Hert M, Réthelyi JM, Bitter I, Rubino IA, Golimbet V, Kiemen
Magazine: Biological Psychiatry

Titel: Multimodal longitudinal study of structural brain involvement in amyotrophic lateral sclerosis
Auteur: van der Burgh, Hannelore K., Westeneng, Henk-Jan, Walhout, Renée, van Veenhuijzen, Kevin, Tan, Harold H.G., Meier, Jil M., Bakker, Leonhard A., Hendrikse, Jeroen, van Es, Michael A., Veldink, Jan H., van den Heuvel, Martijn P., van den Berg, Leonard H.
Magazine: Neurology

Titel: In pursuit of the normal progressor: the holy grail for ALS clinical trial design?
Auteur: van Eijk, Ruben P. A., van Den Berg, Leonard H.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Parental age and the risk of amyotrophic lateral sclerosis.
Auteur: De Jong SW, Huisman MH, Hennekam EA, Sutedja NA, van der Kooi AJ, de Visser M, Schelhaas HJ, Fischer K, Veldink JH*, van den Berg LH
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.
Auteur: Groen EJ, Fumoto K, Blokhuis AM, Engelen-Lee J, Zhou Y, van den Heuvel DM, Koppers M, van Diggelen F, van Heest J, Demmers JA, Kirby J, Shaw PJ, Aronica E, Spliet WG, Veldink JH, van den Berg LH, Pasterkamp RJ.
Magazine: Human Molecular Genetics

Titel: Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Auteur: 63. Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C
Magazine: Science

Titel: Associations of Electric Shock and Extremely Low-Frequency Magnetic Field Exposure With the Risk of Amyotrophic Lateral Sclerosis
Auteur: Peters, Susan, Visser, Anne E, D’Ovidio, Fabrizio, Beghi, Ettore, Chiò, Adriano, Logroscino, Giancarlo, Hardiman, Orla, Kromhout, Hans, Huss, Anke, Veldink, Jan, Vermeulen, Roel, van den Berg, Leonard H
Magazine: American Journal of Epidemiology

Titel: Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Auteur: Porcu, Eleonora, Rüeger, Sina, Lepik, Kaido, Santoni, Federico A., Reymond, Alexandre, Kutalik, Zoltán
Magazine: Nature Communications

Titel: Understanding the use of NIV in ALS: results of an international ALS specialist survey
Auteur: Heiman-Patterson, Terry D., Cudkowicz, Merit E., De Carvalho, Mamede, Genge, Angela, Hardiman, Orla, Jackson, Carlayne E., Lechtzin, Noah, Mitsumoto, Hiroshi, Silani, Vincenzo, Andrews, Jinsy A., Chen, Dafeng, Kulke, Sarah, Rudnicki, Stacy A., van den Berg, Leonard H.
Magazine: Amyotroph Lateral Scler Frontotemporal Degener

Titel: CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
Auteur: Project MinE ALS Sequencing Consortium.
Magazine: Annals of Neurology

Titel: Therapy of amyotrophic lateral sclerosis remains a challenge
Auteur: Van den Berg LH
Magazine: Lancet Neurology

Titel: Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis
Auteur: Gaastra B, Shatunov A, Pulit S, Jones AR, Sproviero W, Gillett A, Chen Z, Kirby J, Fogh I, Powell JF, Leigh PN, Morrison KE, Shaw PJ, Shaw CE, van den Berg LH, Veldink JH, Lewis CM, Al-Chalabi A.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients
Auteur: Van Eerde AM, Duran K, van Riel E, de Kovel CG, Koeleman BP, Knoers NV, Renkema KY, van der Horst HJ, Bökenkamp A, van Hagen JM, van den Berg LH, Wolffenbuttel KP, van den Hoek J, Feitz WF, de Jong TP, Giltay JC, Wijmenga C
Magazine: PLoS ONE

Titel: Associations of autozygosity with a broad range of human phenotypes.
Auteur: 222. Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, Deelen P, Rohde R, Schurmann C, Guo X, Giulianini F, Zhang W, Medina-Gomez C, Karlsson R, Bao Y, Bartz TM, Baumbach C, Biino G, Bixley MJ, Brumat M, Chai JF, Corre T, Cousminer DL, Dekker AM, Eccles DA, van Eijk KR, Fuchsberger C, Gao H, Germain M, Gordon SD, de Haan HG, Harris SE, Hofer E, Huerta-Chagoya A, Igartua C, Jansen IE, Jia Y, Kacprowski T, Karlsson T, Kleber ME, Li SA, Li-Gao R, Ma
Magazine: Nature Communications

Titel: Structural brain network imaging shows expanding disconnection of the motor system in amyotrophic lateral sclerosis
Auteur: Verstraete E, Veldink JH, van den Heuvel MP*, van den Berg LH*.
Magazine: Human Brain Mapping

Titel: Common variant at 16p11.2 conferring risk of psychosis.
Auteur: Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OP, Lin K, Papiol S, Huttenlocher J, Sigurdsson E, Vassos E, Giegling I, Breuer R, Fraser G, Walker N, Melle I, Djurovic S, Agartz I, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Olsen L, Hansen T, Ingason A, Pirinen M, Strengman E; GROUP, Hougaard DM, Orntoft T, Didriksen M, Hollegaard MV, Nordentoft M, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Etain B, Bellivier F, Méary A, Schürhoff F
Magazine: Molecular Psychiatry

Titel: A case series of PLS patients with frontotemporal dementia and overview of the literature
Auteur: de Vries, Bálint S., Rustemeijer, Laura M.M., van der Kooi, Anneke J., Raaphorst, Joost, Schröder, Carin D., Nijboer, Tanja C.W., Hendrikse, Jeroen, Veldink, Jan H., van den Berg, Leonard H., van Es, Michael A.
Magazine: Amyotroph Lateral Scler Frontotemporal Degener

Titel: Simulating disease propagation across white matter connectome reveals anatomical substrate for neuropathology staging in amyotrophic lateral sclerosis
Auteur: Schmidt R, de Reus MA, Scholtens LH, van den Berg LH, van den Heuvel MP
Magazine: Neuroimage

Titel: Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
Auteur: Westeneng, Henk-Jan, Debray, Thomas P A, Visser, Anne E, van Eijk, Ruben P A, Rooney, James P K, Calvo, Andrea, Martin, Sarah, McDermott, Christopher J, Thompson, Alexander G, Pinto, Susana, Kobeleva, Xenia, Rosenbohm, Angela, Stubendorff, Beatrice, Sommer, Helma, Middelkoop, Bas M, Dekker, Annelot M, van Vugt, Joke J F A, van Rheenen, Wouter, Vajda, Alice, Heverin, Mark, Kazoka, Mbombe, Hollinger, Hannah, Gromicho, Marta, Körner, Sonja, Ringer, Thomas M, Rödiger, Annekathrin, Gunkel, Anne, Sh
Magazine: Lancet Neurology

Titel: VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
Auteur: Van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH*, van den Berg LH*.
Magazine: Neurobiology of Aging

Titel: Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis.
Auteur: ALSGEN Consortium, Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY; ITALSGEN consortium, Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris
Magazine: Neurobiology of Aging

Titel: The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Auteur: Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi
Magazine: European Journal of Human Genetics

Titel: Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study.
Auteur: De Jong SW, Huisman MH, Sutedja NA, van der Kooi AJ, de Visser M, Schelhaas HJ, Fischer K, Veldink JH*, van den Berg LH
Magazine: American Journal of Epidemiology

Titel: UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.
Auteur: Van Doormaal PT, van Rheenen W, van Blitterswijk M, Schellevis RD, Schelhaas HJ, de Visser M, van der Kooi AJ, Veldink JH*, van den Berg LH*.
Magazine: Neurobiology of Aging

Titel: Associations between illness cognitions and health-related quality of life in the first year after diagnosis of amyotrophic lateral sclerosis
Auteur: Kruitwagen-van Reenen, E.T.h., MWM, Post, van Groenestijn, A., van den Berg, L.H., JMA, Visser-Meily
Magazine: Journal of Psychosomatic Research

Titel: ALS, a heterogeneous disorder
Auteur: van Es MA, Kruitwagen-van Reenen ET, Schröder CD, Pasterkamp RJ, Veldink JH, van den Berg LH
Magazine: Nederlands Tijdschrift voor Geneeskunde

Titel: A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis
Auteur: Müller, Hans-Peter, Turner, Martin R, Grosskreutz, Julian, Abrahams, Sharon, Bede, Peter, Govind, Varan, Prudlo, Johannes, Ludolph, Albert C, Filippi, Massimo, Kassubek, Jan
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects.
Auteur: van Eijk KR, de Jong S, Boks MP, Langeveld T, Colas F, Veldink JH, de Kovel CG, Janson E, Strengman E, Langfelder P, Kahn RS, van den Berg LH, Horvath S, Ophoff RA
Magazine: BMC Genomics

Titel: Autoantibody pathogenicity in a multifocal motor neuropathy induced pluripotent stem cell-derived model
Auteur: Harschnitz, Oliver, van den Berg, Leonard H., Johansen, Lill Eva, Jansen, Marc D., Kling, Sandra, Vieira de Sá, Renata, Vlam, Lotte, van Rheenen, Wouter, Karst, Henk, Wierenga, Corette J., Pasterkamp, R. Jeroen, van der Pol, W. Ludo
Magazine: Annals of Neurology

Titel: Exploring the fitness hypothesis in ALS: a population-based case-control study of parental cause of death and lifespan
Auteur: Visser, Anne E, Seelen, Meinie, Hulsbergen, Alexander, de Graaf, Joris, van der Kooi, Anneke J, Raaphorst, Joost, Veldink, Jan H, van den Berg, Leonard H
Magazine: Journal of Neurol Neurosurg Psychiatry

Titel: Skewed X-inactivation is common in the general female population
Auteur: Shvetsova, Ekaterina, Sofronova, Alina, Monajemi, Ramin, Gagalova, Kristina, Draisma, Harmen H. M., White, Stefan J., Santen, Gijs W. E., Chuva de Sousa Lopes, Susana M., Heijmans, Bastiaan T., van Meurs, Joyce, Jansen, Rick, Franke, Lude, Kielbasa, Szymon M., den Dunnen, Johan T., ‘t Hoen, Peter A. C.
Magazine: European Journal of Human Genetics

Titel: Genome-wide analysis of constitutional DNA methylation in familial melanoma
Auteur: Salgado, Catarina, Gruis, Nelleke, Heijmans, Bastiaan T., Oosting, Jan, van Doorn, Remco
Magazine: Clinical Epigenetics

Titel: No association betweenBorrelia burgdorferiantibodies and amyotrophic lateral sclerosis in a case-control study
Auteur: Visser, A. E., Verduyn Lunel, F. M., Veldink, J. H., van den Berg, L. H.
Magazine: European Journal of Neurology

Titel: Deep learning predictions of survival based on MRI in amyotrophic lateral sclerosis
Auteur: van der Burgh, Hannelore K., Schmidt, Ruben, Westeneng, Henk-Jan, de Reus, Marcel A., van den Berg, Leonard H., van den Heuvel, Martijn P.
Magazine: Neuroimage Clinical

Titel: SMN1 gene duplications are associated with sporadic ALS
Auteur: Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH*, van den Berg LH
Magazine: Neurology

Titel: Response to 'Exploring limits of neuropsychological screening in ALS: The FAB problem'.
Auteur: Raaphorst J, Beeldman E, Schmand B, van den Berg LH, de Visser M, de Haan RJ.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Amyotrophic lateral sclerosis
Auteur: Hardiman, Orla, Al-Chalabi, Ammar, Chio, Adriano, Corr, Emma M., Logroscino, Giancarlo, Robberecht, Wim, Shaw, Pamela J., Simmons, Zachary, van den Berg, Leonard H.
Magazine: Nature Reviews Disease Primers

Titel: UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.
Auteur: van Doormaal PT, van Rheenen W, van Blitterswijk M, Schellevis RD, Schelhaas HJ, de Visser M, van der Kooi AJ, Veldink JH, van den Berg LH.
Magazine: Neurobiology of Aging

Titel: Controversies and priorities in amyotrophic lateral sclerosis.
Auteur: Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, Ince PG, Lin C, Miller RG, Mitsumoto H, Nicholson G, Ravits J, Shaw PJ, Swash M, Talbot K, Traynor BJ, van den Berg LH, Veldink JH, Vucic S, Kiernan MC.
Magazine: Lancet Neurology

Titel: . Common variant at 16p11.2 conferring risk of psychosis.
Auteur: Steinberg S, de Jong S, Mattheisen M, Costas J, Demontis D, Jamain S, Pietiläinen OP, Lin K, Papiol S, Huttenlocher J, Sigurdsson E, Vassos E, Giegling I, Breuer R, Fraser G, Walker N, Melle I, Djurovic S, Agartz I, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Olsen L, Hansen T, Ingason A, Pirinen M, Strengman E; GROUP, Hougaard DM, Orntoft T, Didriksen M, Hollegaard MV, Nordentoft M, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Etain B, Bellivier F, Méary A, Schürhoff F
Magazine: Molecular Psychiatry

Titel: Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations in TARDBP
Auteur: Van Blitterswijk M, Rademakers R, van den Berg LH
Magazine: Neuropathology and Applied Neurobiology

Titel: Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis
Auteur: Verstraete E, Veldink JH, Hendrikse J, Schelhaas HJ, van den Heuvel MP*, van den Berg LH
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: Evidence for a multimodal effect of riluzole in patients with ALS?
Auteur: de Jongh, Adriaan D, van Eijk, Ruben P A, van den Berg, Leonard H
Magazine: Journal of Neuroly Neurosurgy Psychiatry.

Titel: Amyotrophic lateral sclerosis: moving towards a new classification system
Auteur: Al-Chalabi A, Hardiman O, Kiernan MC, Chiò A, Rix-Brooks B, van den Berg LH.
Magazine: Lancet Neurology

Titel: NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Auteur: Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH.
Magazine: Human Molecular Genetics

Titel: Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
Auteur: van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH.
Magazine: Human Molecular Genetics

Titel: A mapping review of international guidance on the management and care of ALS
Auteur: Janssens AI, Ruytings M, Al-Chalabi A, Chio A, Hardiman O, Mcdermott CJ, Meyer T, Mora G, Van Damme P, van den Berg LH, Vanhaecht K, Winkler AS, Sermeus W; ALS-CARE Consortium
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates
Auteur: Palamara PF1, Francioli LC2, Wilton PR3, Genovese G4, Gusev A5, Finucane HK6, Sankararaman S7; Genome of the Netherlands Consortium, Sunyaev SR8, de Bakker PI9, Wakeley J3, Pe'er I10, Price AL11
Magazine: American Journal of Human Genetics

Titel: TDP-43 plasma levels are higher in amyotrophic lateral sclerosis.
Auteur: Verstraete E, Kuiperij HB, van Blitterswijk MM, Veldink JH, Schelhaas HJ, van den Berg LH, Verbeek MM.
Magazine: Amyotrophic Lateral Sclerosis

Titel: Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression
Auteur: Fu J, Wolfs MG, Deelen P, Westra HJ, Fehrmann RS, Te Meerman GJ, Buurman WA, Rensen SS, Groen HJ, Weersma RK, van den Berg LH, Veldink J, Ophoff RA, Snieder H, van Heel D, Jansen RC, Hofker MH, Wijmenga C, Franke L
Magazine: PLoS Genetics

Titel: Susceptibility loci for sporadic brain arteriovenous malformation; a replication study and meta-analysis
Auteur: Kremer PH, Koeleman BP, Rinkel GJ, Diekstra FP, van den Berg LH, Veldink JH, Klijn CJ.
Magazine: Journal of Neurology, Neurosurgery and Psychiatry

Titel: Large-scale screening in sporadic ALS identifies genetic modifiers in C9orf72 repeat carriers
Auteur: Dekker AM, Seelen M, van Doormaal PT, van Rheenen W, Bothof RJ, van Riessen T, Brands WJ, van der Kooi AJ, de Visser M, Voermans NC, Pasterkamp RJ, Veldink JH, van den Berg LH, van Es MA
Magazine: Neurobiology of Aging

Titel: A case of ALS with posterior cortical atrophy.
Auteur: Nijboer TCW, Nitert B, Westeneng HJ, van den Berg LH, van Es MA.
Magazine: Amyotrophic lateral sclerosis and frontotemporal degeneration

Titel: Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes
Auteur: de Vries, Bálint S, Rustemeijer, Laura M M, Bakker, Leonhard A, Schröder, Carin D, Veldink, Jan H, van den Berg, Leonard H, Nijboer, Tanja C W, van Es, Michael A
Magazine: Journal of Neuroly Neurosurgy Psychiatry.

Kenmerken

Projectnummer:: 91812627
Looptijd: 100%: 2012

2020
Gerelateerde programma's:: Vici, voor onderzoekers die hun leiderschap en onderzoeksgroep verder willen ontwikkelen
Gerelateerde subsidieronde:: Vernieuwingsimpuls Vici 2011 - ZonMw SA
Projectleider en penvoerder:: Prof. dr. L.H. van der Berg
Verantwoordelijke organisatie:: Universitair Medisch Centrum Utrecht

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