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- [2] A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia The Cerebellum, 2014, 13 : 331 - 337
- [5] A Novel Missense Mutation in AFG3L2 Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28 Journal of Molecular Neuroscience, 2014, 52 : 493 - 496
- [7] Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX-AFG3L2) MOVEMENT DISORDERS CLINICAL PRACTICE, 2023, 10 (06): : 1024 - 1026
- [8] Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2 The Cerebellum, 2019, 18 : 817 - 822
- [9] Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2 CEREBELLUM, 2019, 18 (04): : 817 - 822
- [10] Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration JOURNAL OF NEUROSCIENCE, 2009, 29 (29): : 9244 - 9254