Latest Articles
- ArticleMild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, et al.March 19, 2021
- ArticleNeurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R. Koscik, Vincent Magnotta, et al.March 18, 2021
- ArticlePhenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A. Myers, Carla Marini, Gemma L. Carvill, et al.March 18, 2021
- Clinical/Scientific NotesRapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsKyoko Hoshino, Kathleen J. Sweadner, Toshitaka Kawarai, et al.March 16, 2021
- ArticleExpanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide ExpansionsCarlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, et al.March 15, 2021
- ArticleNovel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A. Schober, et al.March 15, 2021
- ArticlePolygenic Risk Scores Augment Stroke SubtypingJiang Li, Durgesh P. Chaudhary, Ayesha Khan, et al.March 09, 2021
- ArticleAssociations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1Stephan Wenninger, Sarah A. Cumming, Kristina Gutschmidt, et al.March 09, 2021
- Clinical/Scientific NotesU-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 GeneGiacomo Sferruzza, Andrea Del Bondio, Andrea Citterio, et al.March 09, 2021
- ArticleBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital PorencephalyA Case ReportMariel W.A. Teunissen, Erik-Jan Kamsteeg, Suzanne C.E.H. Sallevelt, et al.March 09, 2021
Pages
Advertisement