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Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics.
- Published in:
- Neuroepidemiology, 2010, v. 35, n. 3, p. 171, doi. 10.1159/000314351
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- Article
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease.
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- Journal of Neurology, 2023, v. 270, n. 5, p. 2576, doi. 10.1007/s00415-023-11581-w
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- Article
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4
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- Article
A novel c.5308_5311 delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
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- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-28
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- Article
Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1241195
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- Article
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4
- By:
- Publication type:
- Article