Associated Papers
Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency.
Feng Z et al.
Kidney International Reports, 2025
Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.
Distelmaier F et al.
Brain : a Journal of Neurology, 2025
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease.
Matsukawa T et al.
Cerebellum (london, England), 2024
Coenzyme Q10: A Biomarker in the Differential Diagnosis of Parkinsonian Syndromes.
Bartošová T et al.
Antioxidants (basel, Switzerland), 2023
Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.
Legati A et al.
Current Neurology and Neuroscience Reports, 2023
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population.
Porto KJ et al.
Journal of the Neurological Sciences, 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
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
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
Mutational analysis of COQ2 in patients with MSA in Italy.
Ronchi D et al.
Neurobiology of Aging, 2016
Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum.
Barca E et al.
Journal of Neuropathology and Experimental Neurology, 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 Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy.
Wen XD et al.
Cns Neuroscience & Therapeutics, 2015
Lack of evidence for an association between the V393A variant of COQ2 and amyotrophic lateral sclerosis in a Han Chinese population.
Yang X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
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
SNP rs11931074 of the SNCA gene may not be associated with multiple system atrophy in Chinese population.
Sun Z et al.
The International Journal of Neuroscience, 2015
SNCA variants rs2736990 and rs356220 as risk factors for Parkinson's disease but not for amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population.
Guo XY et al.
Neurobiology of Aging, 2014
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
Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.
Goldman JS et al.
Jama Neurology, 2014
The neurogenetics of atypical parkinsonian disorders.
Fogel BL et al.
Seminars in Neurology, 2014
Lipid dysfunction and pathogenesis of multiple system atrophy.
Bleasel JM et al.
Acta Neuropathologica Communications, 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