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Journal of Neurophysiology|May 18, 2022
Human <i>KCNQ5</i> de novo mutations underlie epilepsy and intellectual disabilityAguan D Wei, Paul Wakenight, Theresa A Zwingman, et al.The Lancet. Neurology|September 11, 2007
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association studyMichael A van Es, Paul W Van Vught, Hylke M Blauw, et al.Brain : a Journal of Neurology|February 4, 2012
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansionsJavier Simón-Sánchez, Elise G P Dopper, Petra E Cohn-Hokke, et al.Nature Genetics|December 18, 2007
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosisMichael A van Es, Paul W J van Vught, Hylke M Blauw, et al.Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.Molecular Psychiatry|October 14, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.European Journal of Human Genetics : EJHG|June 14, 2012
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founderBradley N Smith, Stephen Newhouse, Aleksey Shatunov, et al.Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.Annals of Neurology|December 23, 2011
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosisMichael A van Es, Helenius J Schelhaas, Paul W J van Vught, et al.Nature Genetics|September 8, 2009
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosisMichael A van Es, Jan H Veldink, Christiaan G J Saris, et al.Pageof 6