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- Clinical/Scientific NotesOpening One's Eyes to Mosaicism in Progressive External OphthalmoplegiaEwen W. Sommerville, Rachel L. Jones, Steven A. Hardy, et al.December 15, 2017
- ArticleCDKL5 variantsImproving our understanding of a rare neurologic disorderRalph D. Hector, Vera M. Kalscheuer, Friederike Hennig, et al.December 15, 2017
- ArticleFactors influencing the age at onset in familial frontotemporal lobar dementiaImportant weight of geneticsMathieu Barbier, Agnès Camuzat, Marion Houot, et al.December 14, 2017
- ArticleCharacterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsyJeffrey D. Calhoun, Carlos G. Vanoye, Fernando Kok, et al.December 12, 2017
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- Clinical/Scientific NotesNovel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystoniaCeline Bris, Tiphaine Rouaud, Valerie Desquiret-Dumas, et al.December 12, 2017
- Clinical/Scientific NotesNovel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndromeHugo Botha, NiCole A. Finch, Ralitza H. Gavrilova, et al.December 12, 2017
- ArticleClinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.December 12, 2017
- Articlec.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystoniaAli S. Shalash, Thomas W. Rösler, Stefanie H. Müller, et al.November 02, 2017
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