COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration

Spinocerebellar ataxia: relationship between phenotype and genotype - a review

(2016) Y.-M. Sun et al.   CLINICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

(2015) Gloria Brea-Calvo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

(2015) Brent L. Fogel et al.   Annals of the New York Academy of Sciences

Mutations inCOQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

(2015) Wendy K Chung et al.   JOURNAL OF MEDICAL GENETICS

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

(2014) Maria Andrea Desbats et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Coenzyme Q10 and spinocerebellar ataxias

(2014) Raymond Y. Lo et al.   MOVEMENT DISORDERS

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

(2012) Leonardo Salviati et al.   JOURNAL OF MEDICAL GENETICS