Latest Articles
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- ArticleGenotyping single nucleotide polymorphisms for allele-selective therapy in Huntington diseaseDaniel O. Claassen, Jody Corey-Bloom, E. Ray Dorsey, et al.May 14, 2020
- ArticleExpanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophyStefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.May 11, 2020
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- Clinical/Scientific NotesExpanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndromeAnasofia Elizondo-Plazas, Marisol Ibarra-Ramírez, Azalea Garza-Báez, et al.May 07, 2020
- ArticlePhenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutationsValter Niemelä, Ammar Salih, Daniela Solea, et al.April 28, 2020
- ArticleTGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35Yanxing Chen, Dengchang Wu, Benyan Luo, et al.April 22, 2020
- Clinical/Scientific NotesBiallelic LINE insertion mutation in HACD1 causing congenital myopathyFatema Al Amrani, Carolina Gorodetsky, Lili-Naz Hazrati, et al.April 13, 2020
- ArticleCerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutationMassimo Pandolfo, Myriam Rai, Gauthier Remiche, et al.April 09, 2020
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