European Journal of Neurology, Volume 33, Issue 5, May 2026.
Paulo Caramelli, Isabel Pavão Martins
wiley +1 more source
Molecules Involved in Purkinje Cell Dendritic Development and Spinocerebellar Ataxias
, 2020 Qin‐Wei Wu
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A targeted gene panel that covers coding, non-coding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases [PDF]
, 2019 Genetic testing for neurodegenerative diseases (NDs) is highly challenging because of genetic heterogeneity and overlapping manifestations. Targeted-gene panels (TGPs), coupled with next-generation sequencing (NGS), can facilitate the profiling of a ...
Au, Wing Chi +11 more
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Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China [PDF]
, 2018 Minjin Wang +6 more
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Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. [PDF]
, 2001 BACKGROUND: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs.
Barbot, C. +11 more
core
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21‐q23 [PDF]
, 2003 Ming‐Yi Chung +3 more
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Journal of Internal Medicine, Volume 299, Issue 5, Page 643-648, May 2026.
Josephine Wincent +8 more
wiley +1 more source
Mutations in KCND3 linked to spinocerebellar ataxias [PDF]
, 2012 Ellen Bible
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The preclinical stage of spinocerebellar ataxias [PDF]
, 2015 Roderick P.P.W.M. Maas +3 more
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The progression rate of spinocerebellar ataxia type 3 varies with disease stage [PDF]
, 2022 Linliu Peng +13 more
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