Latest Articles
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- ArticleCopy number variation analysis increases the diagnostic yield in muscle diseasesSalla Välipakka, Marco Savarese, Mridul Johari, et al.December 12, 2017
- 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
- ArticleNo rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremorGabrielle Houle, Amirthagowri Ambalavanan, Jean-François Schmouth, et al.October 19, 2017
- Clinical/Scientific NotesThe Alzheimer's Disease Sequencing Project: Study design and sample selectionGary W. Beecham, J.C. Bis, E.R. Martin, et al.October 13, 2017
- EditorialGenomic links between blast exposure, brain injury, and Alzheimer diseaseYvette P. Conley, Ramon Diaz-ArrastiaOctober 13, 2017
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