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A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Samanci, Bedia; Gokalp, Ebru Erzurumluoglu; Bilgic, Basar; Gurvit, Hakan; Artan, Sevilhan; Hanagasi, Hasmet A.
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  • Samanci B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. bediasamanci@gmail.com.
  • Gokalp EE; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Bilgic B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Gurvit H; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Artan S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Hanagasi HA; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Neurol Sci ; 42(7): 2969-2973, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33559790
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxias Espinocerebelosas / Proteínas de Choque Térmico Límite: Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Turquía
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxias Espinocerebelosas / Proteínas de Choque Térmico Límite: Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Turquía