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

Genotype–phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia

(2011) Akio Yokoseki et al.   BRAIN

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

(2011) Thomas Klopstock et al.   BRAIN

A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress

(2011) Bárbara J. Henriques et al.   FEBS LETTERS

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

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

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

(2010) Peter Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

(2010) Mike Gerards et al.   BRAIN

Coenzyme Q and mitochondrial disease

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

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

(2010) Gladys Ho et al.   HUMAN MUTATION

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2010) Mike Gerards et al.   MITOCHONDRION

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28–30 November 2008, Bussum, The Netherlands

(2010) Pascal Laforêt et al.   NEUROMUSCULAR DISORDERS

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

(2010) Luis C. López et al.   PLoS One

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

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

(2009) Sabrina Sacconi et al.   NEUROMUSCULAR DISORDERS

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

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

(2008) Raquel Montero et al.   CLINICAL BIOCHEMISTRY

Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA Dehydrogenation Deficiency

(2008) Bárbara J. Henriques et al.   JOURNAL OF BIOLOGICAL CHEMISTRY