Molecular diagnosis of coenzyme Q10deficiency

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

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

The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene

(2015) M. Luna-Sanchez et al.   EMBO Molecular Medicine

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

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

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

(2013) Mara Doimo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The molecular genetics of coenzyme Q biosynthesis in health and disease

(2013) Leila N. Laredj et al.   BIOCHIMIE

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

(2013) Jeana T DaRe et al.   BMC Medical Genetics

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

(2013) H. J. McCarthy et al.   Clinical Journal of the American Society of Nephrology

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

(2013) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

(2013) Darrell L. Dinwiddie et al.   GENOMICS

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

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

Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

(2013) Nuria Buján et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders

(2013) Shale Dames et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

(2013) Raquel Montero et al.   MITOCHONDRION

Next generation molecular diagnosis of mitochondrial disorders

(2013) Lee-Jun C. Wong   MITOCHONDRION

A glimpse into past, present, and future DNA sequencing

(2013) Marcos Morey et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Heterogeneity of Coenzyme Q10Deficiency

(2012) Valentina Emmanuele et al.   ARCHIVES OF NEUROLOGY

Overexpression of the Coq8 Kinase inSaccharomyces cerevisiae coqNull Mutants Allows for Accumulation of Diagnostic Intermediates of the Coenzyme Q6Biosynthetic Pathway

(2012) Letian X. Xie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

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

Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories

(2012) Lee-Jun C. Wong   Neurotherapeutics

New developments on the functions of coenzyme Q in mitochondria

(2011) Maria Luisa Genova et al.   BIOFACTORS

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

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders

(2011) Marco Spinazzi et al.   MITOCHONDRION

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

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

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

Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

(2008) Raquel Montero et al.   CLINICAL BIOCHEMISTRY

Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies

(2008) Michael V. Miles et al.   MITOCHONDRION