Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians
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Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004; 3: 291–304.
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Publication History
Received: April 13, 2004
Accepted: May 11, 2004
Published online: September 13, 2004
Published in issue: September 14, 2004
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- The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non‐kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient , Movement Disorders, 40, 2, (370-375), (2024).https://doi.org/10.1002/mds.30087
- Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27, Journal of Internal Medicine, 288, 1, (103-115), (2020).https://doi.org/10.1111/joim.13052
- A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia, neurogenetics, 16, 3, (233-236), (2015).https://doi.org/10.1007/s10048-014-0436-7
- Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population, Neuroscience Letters, 520, 1, (16-19), (2012).https://doi.org/10.1016/j.neulet.2012.05.008
- Autosomal dominant cerebellar ataxias, Revue Neurologique, 167, 5, (385-400), (2011).https://doi.org/10.1016/j.neurol.2011.01.015
- SCA27, Encyclopedia of Movement Disorders, (91-95), (2010).https://doi.org/10.1016/B978-0-12-374105-9.00241-0
- The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients , Movement Disorders, 22, 5, (752-753), (2007).https://doi.org/10.1002/mds.21389
- Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 144B, 3, (395-396), (2007).https://doi.org/10.1002/ajmg.b.30472
- Chapter 4 Clinical and Genetic Aspects of Spinocerebellar Ataxias with Emphasis on Polyglutamine Expansions, Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias, (113-144), (2007).https://doi.org/10.1016/S1877-184X(09)70078-4
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