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Human Molecular Genetics|May 31, 2012
Evidence for an oligogenic basis of amyotrophic lateral sclerosisMarka van Blitterswijk, Michael A van Es, Eric A M Hennekam, et al.Annals of Neurology|March 6, 2013
Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositisHelma Pluk, Bas J A van Hoeve, Sander H J van Dooren, et al.Neurology|July 31, 2012
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseasesWouter van Rheenen, Marka van Blitterswijk, Mark H B Huisman, et al.Archives of Neurology|February 10, 2010
FUS mutations in familial amyotrophic lateral sclerosis in the NetherlandsEwout J N Groen, Michael A van Es, Paul W J van Vught, et al.Annals of Neurology|January 3, 2013
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19Anna Duarri, Justyna Jezierska, Michiel Fokkens, et al.Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|November 20, 2009
Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosisMichael A Van Es, Paul W J Van Vught, Jan H Veldink, et al.Neurobiology of Aging|November 15, 2011
VCP mutations in familial and sporadic amyotrophic lateral sclerosisMax Koppers, Marka M van Blitterswijk, Lotte Vlam, et al.Epilepsia|December 8, 2018
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disabilityFrancesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, et al.American Journal of Human Genetics|May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyKornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.Nature Genetics|December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CMichaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.Pageof 6