Latest Articles
- ArticleCritical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disordersE. Robert Wassman, Karen S. Ho, Diana Bertrand, et al.December 06, 2019
- EditorialRating scales for rare neurological diseasesWhat are we learning from Friedreich ataxia?Massimo PandolfoNovember 25, 2019
- Clinical/Scientific NotesFurther supporting evidence for REEP1 phenotypic and allelic heterogeneityReza Maroofian, Mahdiyeh Behnam, Rauan Kaiyrzhanov, et al.November 15, 2019
- ArticleMethylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicismStéphane Roche, Camille Dion, Natacha Broucqsault, et al.November 14, 2019
- ArticleSpastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALSMaria-Del-Mar Amador, François Muratet, Elisa Teyssou, et al.November 13, 2019
- Clinical/Scientific NotesGalloping tongue syndrome in a PRRT2 mutation carrierDolores Vilas, Anna Marcé-Grau, Alfons Macaya, et al.November 12, 2019
- ArticleIdentification of TYW3/CRYZ and FGD4 as susceptibility genes for amyotrophic lateral sclerosisLing Wei, Yanghua Tian, Yongping Chen, et al.November 08, 2019
- Clinical/Scientific NotesMyelopathy in a patient with leukodystrophy due to CSF1R mutationVictoria M. Ho, Dominic A. Hovsepian, Perry B. ShiehNovember 08, 2019
- ArticleGNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularisJoseph M. Sliepka, Sarah C. McGriff, Linda Z. Rossetti, et al.October 30, 2019
- ArticleClinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variantsLaurence Gauquelin, Ferdy K. Cayami, László Sztriha, et al.October 30, 2019
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Dr. Babak Hooshmand and Dr. David Smith