Latest Articles
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- ArticleAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, et al.August 01, 2018
- Clinical/Scientific NotesCase of late-onset Sandhoff disease due to a novel mutation in the HEXB geneAngela R. Sung, Paolo Moretti, Aziz ShaibaniJuly 30, 2018
- ArticleASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndromePadmaja Vittal, Shrikant Pandya, Kevin Sharp, et al.July 30, 2018
- Clinical/Scientific NotesNovel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, et al.July 26, 2018
- ArticleCarey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophyCarola Hedberg-Oldfors, Christopher Lindberg, Anders OldforsJuly 23, 2018
- ArticleLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, et al.July 23, 2018
- Clinical/Scientific NotesIndependent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1Morgan E. Freret, Corina Anastasaki, David H. GutmannJuly 23, 2018
- Clinical/Scientific NotesAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, et al.July 20, 2018
- ArticleExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathyMartin S. King, Kyle Thompson, Sila Hopton, et al.July 20, 2018
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