Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

Impaired complex IV activity in response to loss of LRPPRC function can be compensated by mitochondrial hyperfusion

(2013) S. G. Rolland et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Novel OPA3 Mutation Revealed by Exome Sequencing

(2013) Beenish Arif et al.   JAMA Neurology

Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations

(2012) Virginie Agier et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

(2012) Radek Szklarczyk et al.   HUMAN MOLECULAR GENETICS

A distinctive pattern of cortical excitability in patients with the syndrome of dystonia and cerebellar ataxia

(2011) Penelope Talelli et al.   CLINICAL NEUROPHYSIOLOGY

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Movement disorders in spinocerebellar ataxias

(2011) Judith van Gaalen et al.   MOVEMENT DISORDERS

Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts

(2010) Anne Grünewald et al.   PLoS One

Movement disorders in neuro-metabolic diseases

(2009) Neziha Gouider-Khouja et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY