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Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
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Ataxia in children: early recognition and clinical evaluation.
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Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability.
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Int J Mol Sci. 2023 Jan 12;24(2):1551. doi: 10.3390/ijms24021551.
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
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Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.
Sartorelli J, Travaglini L, Garone G, Dentici ML, Sinibaldi L, Digilio MC, Novelli A, Agolini E, D'Amico A, Bertini E, Nicita F.
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Nonprogressive congenital ataxias.
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Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
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Clin Genet. 2019 Aug;96(2):169-175. doi: 10.1111/cge.13562. Epub 2019 Jun 5.
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
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Neuroimaging in cerebellar ataxia in childhood: A review.
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J Neuroimaging. 2022 Sep;32(5):825-851. doi: 10.1111/jon.13017. Epub 2022 Jun 24.
