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[AP4-assocated hereditary spastic paraplegias].

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

Rudenskaya G E, Guseva D M, Mironovich O L, Kadnikova V A, Dadali E L, Komar'kov I F, Novoselova O G, Ryzhkova O P

Abstract excerpt

OBJECTIVE: In the course of studies of spastic paraplegias in Russian patients to detect AP4-associated forms, estimate their proportion in the total SPG group and analyze clinical and molecular characteristics. MATERIAL AND METHODS: Five families of Russian ethnicity: four with SPG47, one with SPG51 (4 girls and a boy aged 2.5-9 years) were studied. Clinical and genealogical methods, whole-exome sequencing (WES)...

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PMID: 33728854
DOI: 10.17116/jnevro202112102171

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