Latest Articles
- ArticleIdentification of a new SYT2 variant validates an unusual distal motor neuropathy phenotypeNataly I. Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.October 22, 2018
- Clinical/Scientific NotesHomozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxiaMaya Tojima, Gaku Murakami, Rie Hikawa, et al.October 16, 2018
- ArticlePlasticity-related gene 3 (LPPR1) and age at diagnosis of Parkinson diseaseZachary D. Wallen, Honglei Chen, Erin M. Hill-Burns, et al.October 05, 2018
- ArticleEarly-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunctionRichard G. Lee, Maryam Sedghi, Mehri Salari, et al.October 05, 2018
- ArticleBioenergetics in fibroblasts of patients with Huntington disease are associated with age at onsetSarah L. Gardiner, Chiara Milanese, Merel W. Boogaard, et al.October 04, 2018
- ArticleIncreased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysisMuhidien Soufi, Volker Ruppert, Susanne Rinné, et al.October 03, 2018
- ArticleProtein network analysis reveals selectively vulnerable regions and biological processes in FTDLuke W. Bonham, Natasha Z.R. Steele, Celeste M. Karch, et al.October 01, 2018
- ArticleGenetic landscape of pediatric movement disorders and management implicationsDawn Cordeiro, Garrett Bullivant, Komudi Siriwardena, et al.September 26, 2018
- Clinical/Scientific NotesDRESS after IV phenytoin associated with cytochrome P450 CYP2C9*3 homozygosityMette S. Nissen, Christoph P. BeierSeptember 19, 2018
- Clinical/Scientific NotesHomozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expressionChristine K. Sloth, Federico Denti, Nicole Schmitt, et al.September 19, 2018
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Dr. Daniel Friedman and Dr. Sharon Chiang