Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene

Primary coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

(2021) María Alcázar-Fabra et al.   FREE RADICAL BIOLOGY AND MEDICINE

Clinico‐genetic, imaging and molecular delineation of COQ8A ‐ataxia: a multicenter study of 59 patients

(2020) Andreas Traschütz et al.   ANNALS OF NEUROLOGY

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

(2019) Serena Galosi et al.   PARKINSONISM & RELATED DISORDERS

Clinical syndromes associated with Coenzyme Q 10 deficiency

(2018) María Alcázar-Fabra et al.   Essays in Biochemistry

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

(2018) Miao Sun et al.   GENETICS IN MEDICINE

Understanding the Epilepsy in POLG Related Disease

(2017) Omar Hikmat et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

ADCK3mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

(2016) O. Hikmat et al.   EUROPEAN JOURNAL OF NEUROLOGY

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

(2013) Cyril Mignot et al.   Orphanet Journal of Rare Diseases

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS