Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging.
Navas P et al.
Biofactors (oxford, England), 2021
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Abdelhakim AH et al.
Orphanet Journal of Rare Diseases, 2020
Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy.
Yasuda T et al.
Neurogenetics, 2019
COQ2 variants in Parkinson's disease and multiple system atrophy.
Mikasa M et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2018
Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations.
Mitsui J et al.
Cerebellum (london, England), 2017
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA et al.
Human Molecular Genetics, 2016
Association of the COQ2 V393A variant with risk of multiple system atrophy in East Asians: a case-control study and meta-analysis of the literature.
Zhao Q et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.
Alsemari A et al.
Clinical Case Reports, 2016
Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy.
Chen YP et al.
Neurobiology of Aging, 2015
Multiple system atrophy: the application of genetics in understanding etiology.
Federoff M et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2015
Association Analysis of COQ2 Variant in Dementia and Essential Tremor.
Chao YX et al.
Parkinson's Disease, 2015
Analysis of COQ2 gene in multiple system atrophy.
Ogaki K et al.
Molecular Neurodegeneration, 2014
Mutant COQ2 in multiple-system atrophy.
Mitsui J et al.
The New England Journal of Medicine, 2014
Mutant COQ2 in multiple-system atrophy.
Jeon BS et al.
The New England Journal of Medicine, 2014
Mutant COQ2 in multiple-system atrophy.
Sharma M et al.
The New England Journal of Medicine, 2014
Mutant COQ2 in multiple-system atrophy.
Schottlaender LV et al.
The New England Journal of Medicine, 2014
Mutant COQ2 in multiple-system atrophy.
Quinzii CM et al.
The New England Journal of Medicine, 2014
Definite familial multiple system atrophy with unknown genetics.
Itoh K et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2014
The COQ2 mutations in Japanese multiple system atrophy: impact on the pathogenesis and phenotypic variation.
Ozawa T
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
Update on novel familial forms of Parkinson's disease and multiple system atrophy.
Fujioka S et al.
Parkinsonism & Related Disorders, 2014
Mutations in COQ2 in familial and sporadic multiple-system atrophy.
Unknown Author
The New England Journal of Medicine, 2013
[Toward identification of susceptible genes for sporadic neurodegenerative disease].
Mitsui J
Rinsho Shinkeigaku = Clinical Neurology, 2013