Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population | Zendy

Faruk İncecik | Zendy; OzlemM Hergüner | Zendy; NeslihanO Mungan | Zendy

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Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population

Author(s) -

Faruk İncecik,

OzlemM Hergüner,

NeslihanO Mungan

Publication year - 2020

Publication title -

journal of pediatric neurosciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.247

H-Index - 18

eISSN - 1998-3948

pISSN - 1817-1745

DOI - 10.4103/jpn.jpn_145_18

Subject(s) - medicine , ataxia , pediatrics , hereditary spastic paraplegia , leukodystrophy , consanguineous marriage , population , consanguinity , joubert syndrome , genetics , pathology , psychiatry , disease , biology , cilium , environmental health , gene , phenotype

Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of inherited neurodegenerative disorders. The aim of this study was to present the clinical and genetic features of patients with ataxia complaints and those genetically diagnosed with ARCAs.

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