Latest Articles
- EditorialReassessing carrier status for dystrophinopathiesTara M. Newcomb, Kevin M. FlaniganOctober 05, 2016
- ArticleMutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTDJulie van der Zee, Peter Mariën, Roeland Crols, et al.September 16, 2016
- Clinical/Scientific NotesNovel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndromeThanes Termglinchan, Seito Hisamatsu, Junko Ohmori, et al.September 14, 2016
- ArticleMendelian randomization shows a causal effect of low vitamin D on multiple sclerosis riskBrooke Rhead, Maria Bäärnhielm, Milena Gianfrancesco, et al.September 13, 2016
- Clinical/Scientific NotesNovel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disabilitySofia Steinrücke, Katja Lohmann, Aloysius Domingo, et al.September 13, 2016
- ArticleLoss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myastheniaAndrew G. Engel, Duygu Selcen, Xin-Ming Shen, et al.September 08, 2016
- Clinical/Scientific NotesGBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysisVictoria Mallett, Jay P. Ross, Roy N. Alcalay, et al.September 08, 2016
- ArticleComplicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)Jennifer Hirst, Marianna Madeo, Katrien Smets, et al.August 25, 2016
- ArticleKCNQ2 encephalopathyFeatures, mutational hot spots, and ezogabine treatment of 11 patientsJohn J. Millichap, Kristen L. Park, Tammy Tsuchida, et al.August 22, 2016
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