Associated Papers
Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.
Ghosh Dastidar R et al.
Molecular Neurobiology, 2024
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
Radziwonik W et al.
Journal of Applied Genetics, 2022
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M et al.
Brain : a Journal of Neurology, 2017
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