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. , Sel S. K. , Guzel A. I. , Kasap H.

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

  • Cilt numarası: 53
  • 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.