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Browsing by Author "Schelhaas, H.J."
Now showing items 1-50 of 114
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias Helbig, K.L.; Lauerer, R.J.; Bahr, J.C.; Souza, I.A.; Myers, C.T.; Uysal, B.; Schwarz, N.; Gandini, M.A.; Huang, S.; Keren, B.; et al.2018, Article / Letter to editor (American Journal of Human Genetics, vol. 103, iss. 5, (2018), pp. 666-678)
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Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients ; Burggraaff, R.C.; Herkert, J.C.; ; ; Diekstra, A.; Vliet, R.O. van; Knaap, M.S. van der; ; ; et al.2013, Article / Letter to editor (European Journal of Human Genetics, vol. 21, iss. 11, (2013), pp. 1312-1315)
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Mutations in BICD2, which encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy ; Martinez-Carrera, L.; Hölker, I.; ; ; Hosseini-Barkooie, S.M.; ; ; Pennings, M.C.P.; Meijer, R.; et al.2013, Article / Letter to editor (American Journal of Human Genetics, vol. 92, (2013), pp. 946-954)
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Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositis ; ; Dooren, S.H. van; ; Heijden, A. van der; ; ; Badrising, U.A.; Arnardottir, S.; Gheorghe, K.; et al.2013, Article / Letter to editor (Annals of Neurology, vol. 73, iss. 3, (2013), pp. 397-407)
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Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Rheenen, W. van; Blitterswijk, M. van; Huisman, M.H.; Vlam, L.; Doormaal, P.T. van; Seelen, M.; Medic, J.; Dooijes, D.; Visser, M. de; Kooi, A.J. van der; et al.2012, Article / Letter to editor (Neurology, vol. 79, iss. 9, (2012), pp. 878-882)
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UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Diekstra, F.P.; Vught, P.W. van; Rheenen, W. van; Koppers, M.; Pasterkamp, R.J.; Es, M.A. van; ; Visser, M. de; Robberecht, W.; Damme, P. van; et al.2012, Article / Letter to editor (Neurobiology of Aging, vol. 33, iss. 3, (2012), pp. 630.e3-8)
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VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Koppers, M.; Blitterswijk, M.M. van; Vlam, L.; Rowicka, P.A.; Vught, P.W. van; Groen, E.J.; Spliet, W.G.; Engelen-Lee, J. van; ; Visser, M. de; et al.2012, Article / Letter to editor (Neurobiology of Aging, vol. 33, iss. 4, (2012), pp. 837.e7-13)
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Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Blitterswijk, M. van; Es, M.A. van; Hennekam, E.A.; Dooijes, D.; Rheenen, W. van; Medic, J.; Bourque, P.R.; ; Kooi, A.J. van der; Visser, M. de; et al.2012, Article / Letter to editor (Human Molecular Genetics, vol. 21, iss. 17, (2012), pp. 3776-3784)
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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. Herdewyn, S.; Zhao, H.; Moisse, M.; Race, V.; Matthijs, G.; Reumers, J.; ; ; ; Goris, A.; et al.2012, Article / Letter to editor (Human Molecular Genetics, vol. 21, iss. 11, (2012), pp. 2412-2419)
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Genetic Overlap between Apparently Sporadic Motor Neuron Diseases van Blitterswijk, M.; Vlam, L.; Es, M.A. van; van der Pol, W.L.; Hennekam, E.A.; Dooijes, D.; ; van der Kooi, A.J.; Visser, M. de; Veldink, J.H.; et al.2012, Article / Letter to editor (PLoS One, vol. 7, iss. 11, (2012), article e48983)
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Mutations in KCND3 gene cause spinocerebellar ataxia type 19 Duarri, A.; Jezierska, J.; Fokkens, M.; Meijer, M.; ; Dunnen, W. den; van Dijk, F.; Verschuuren-Bemelmans, C.; Hageman, G.; Van de Vlies, P.; et al.2012, Article / Letter to editor (FEBS Journal, vol. 279, (2012), pp. 299-300)
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Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19 Duarri, A.; Jezierska, J.; Fokkens, M.; Meijer, M.; ; Dunnen, W. den; van Dijk, F.; Verschuuren-Bemelmans, C.; Hageman, G.; Van de Vlies, P.; et al.2012, Article / Letter to editor (Annals of Neurology, vol. 72, iss. 6, (2012), pp. 870-880)
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A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. ; Sorrentino, V.; Kasher, P.R.; Jakobs, M.E.; ; Fluiter, K.; Wissel, M.B. de; Sizarov, A.; Nurnberg, G.; Nurnberg, P.; et al.2012, Article / Letter to editor (Human Molecular Genetics, vol. 21, iss. 2, (2012), pp. 358-370)
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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Simon-Sanchez, J.; Dopper, E.G.; Cohn-Hokke, P.E.; Hukema, R.K.; Nicolaou, N.; Seelaar, H.; Graaf, J.R.A. de; Koning, I. de; Schoor, N.M. van; Deeg, D.J.G.; et al.2012, Article / Letter to editor (Brain, vol. 135, iss. Pt 3, (2012), pp. 723-735)
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The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS Raaphorst, J.; Beeldman, E.; Schmand, B.A.; Berkhout, J.; Linssen, W.H.J.P.; ; ; Grupstra, H.F.; Weikamp, J.G.; ; et al.2012, Article / Letter to editor (Neurology, vol. 79, iss. 13, (2012), pp. 1377-1383)
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Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Es, M.A. van; ; Vught, P.W. van; Ticozzi, N.; Andersen, P.M.; Groen, E.J.; Schulte, C.; Blauw, H.M.; Koppers, M.; Diekstra, F.P.; et al.2011, Article / Letter to editor (Annals of Neurology, vol. 70, iss. 6, (2011), pp. 964-973)
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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Auer-Grumbach, M.; Olschewski, A.; Papic, L.; ; McEntagart, M.E.; Uhrig, S.; Fischer, C.; Frohlich, E.; Balint, Z.; Tang, B.; et al.2010, Article / Letter to editor (Nature Genetics, vol. 42, iss. 2, (2010), pp. 160-164)
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Now showing items 1-50 of 114
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