Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies

Heterogeneity of Coenzyme Q10Deficiency

(2012) Valentina Emmanuele et al.   ARCHIVES OF NEUROLOGY

NDUFA4 Is a Subunit of Complex IV of the Mammalian Electron Transport Chain

(2012) Eduardo Balsa et al.   Cell Metabolism

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

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

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

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

(2011) Barbara Castellotti et al.   NEUROGENETICS

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

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Coenzyme Q and mitochondrial disease

(2010) Catarina M. Quinzii et al.   Developmental Disabilities Research Reviews

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

(2010) Mike Gerards et al.   MITOCHONDRION

Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up

(2010) Merce Pineda et al.   MOVEMENT DISORDERS

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

Multisystem manifestations of mitochondrial disorders

(2009) Stefano Di Donato   JOURNAL OF NEUROLOGY

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

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

Ataxia With Oculomotor Apraxia Type 1 (AOA1): Clinical and Neuropsychological Features in 2 New Patients and Differential Diagnosis

(2008) Stefano D'Arrigo et al.   JOURNAL OF CHILD NEUROLOGY

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE