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

Molecular pathogenesis of polymerase gamma-related neurodegeneration

(2014) Charalampos Tzoulis et al.   ANNALS OF NEUROLOGY

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

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

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

(2013) Charalampos Tzoulis et al.   BRAIN

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

(2013) Shazia Ashraf et al.   JOURNAL OF CLINICAL INVESTIGATION

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

(2013) Y.-T. Liu et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A novel mutation in COQ2 leading to fatal infantile multisystem disease

(2013) Bernadette S. Jakobs et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

(2013) Kristoffer Haugarvoll et al.   Orphanet Journal of Rare Diseases

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)

(2012) Rita Horvath   JOURNAL OF INHERITED METABOLIC DISEASE

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

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

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

(2011) Rita Horvath et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

(2010) Charalampos Tzoulis et al.   BRAIN

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human CoQ10deficiencies

(2009) C. M. Quinzii et al.   BIOFACTORS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

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

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

(2008) B. A. Engelsen et al.   BRAIN