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[Autosomal dominant spastic paraplegias].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2021

Rudenskaya G E, Kadnikova V A, Bessonova L A, Sparber P A, Kurbatov S A, Mironovich O L, Konovalov F A, Ryzhkova O P

Abstract excerpt

OBJECTIVE: To estimate the proportion and spectrum of infrequent autosomal dominant spastic paraplegias in a group of families with DNA-confirmed diagnosis and to investigate their molecular and clinical characteristics. MATERIAL AND METHODS: Ten families with 6 AD-SPG: SPG6 (n=1), SPG8 (n=2), SPG9A (n=1), SPG12 (n=1), SPG17 (n=3), SPG31 (n=2) were studied using clinical, genealogical, molecular-genetic (massive...

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PMID: 34184482
DOI: 10.17116/jnevro202112105175

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