Abstract Primary Coenzyme Q (CoQ) deficiencies are clinically heterogeneous conditions
and lack clear genotype-phenotype correlations, complicating diagnosis and prognostic …

Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Objective To foster trial‐readiness of coenzyme Q8A (COQ8A)‐ataxia, we map the
clinicogenetic, molecular, and neuroimaging spectrum of COQ8A‐ataxia in a large …

Dystonia is a common movement disorder involving abnormal, often twisting postures and is
a challenging condition to diagnose as we present here in a comprehensive overview. The …

COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis
leads to dysfunction of the respiratory chain. The disease is usually present as childhood …

Vocal rhythm plays a fundamental role in sexual selection and species recognition in birds,
but little is known of its genetic basis due to the confounding effect of vocal learning in model …

Background Primary deficiency of coenzyme Q10 deficiency‐4 (COQ10D4) is an autosomal
recessive cerebellar ataxia with mitochondrial respiratory chain disfunction. The main …

Coenzyme Q (CoQ), also known as ubiquinone, comprises a benzoquinone head group and
a long isoprenoid sidechain. It is thus extremely hydrophobic and resides in membranes. It is …

Background The recessive ataxia ARCA2 is a rare disorder characterized by Coenzyme
Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene. Despite the …

Purpose A patient with primary CoQ10 deficiency associated with the c. 901 C> T (p.
R301W)(rs140246430) homozygous missense pathogenic variant in the COQ8A gene, who …