Determination of Genotypic and Phenotypic Characteristics of Friedreich's Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6


Boz P. B. , Koc F., KOCATÜRK SEL S., Guzel A. I. , KASAP H.

NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, cilt.53, sa.2, ss.115-119, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Konu: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.5152/npa.2015.9925
  • Dergi Adı: NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY
  • Sayfa Sayıları: ss.115-119

Özet

Introduction: This study aimed to analyze the genotypic characteristics of Friedreich's ataxia (FA) and autosomal dominant ataxias [such as spinocerebellar ataxia (SCA) types 1, 2, 3, and 6] using molecular and biological methods in hereditary cerebellar ataxia considering both clinical and electrophysiological findings.