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1
“Myo-neuropathy” is commonly associated with mitochondrial $ tRNA^{Lysine} $ mutation
by:
Ji
,
Kunqian
Published in:
Journal of neurology
(2020)
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2
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia
by:
Ji
,
Kunqian
Published in:
Neurological sciences
(2013)
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3
Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome
by:
Ji
,
Kunqian
Published in:
Neuromolecular medicine
(2013)
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4
Fluctuating ataxia caused by mitochondrial tRNA (Lys) gene m.8363G > A variant
by:
Zhao, Ying
Published in:
Neurological sciences
(2022)
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Ji
,
Kunqian
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5
MERRF/MELAS overlap syndrome due to the m.3291T>C mutation
by:
Liu, Kaiming
Published in:
Metabolic brain disease
(2013)
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Ji
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Kunqian
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6
Growth Differentiation Factor 15 Is a Novel Diagnostic Biomarker of Mitochondrial Diseases
by:
Ji, Xinbo
Published in:
Molecular neurobiology
(2016)
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Ji
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Kunqian
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7
Leber’s hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation
by:
Ren, Hong
Published in:
Neurological sciences
(2022)
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Kunqian
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8
Bezafibrate Rescues Mitochondrial Encephalopathy in Mice via Induction of Daily Torpor and Hypometabolic State
by:
Lyu, Jingwei
Published in:
Neurotherapeutics
(2022)
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Ji
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Kunqian
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9
Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Studies in a Chinese Population
by:
Shan, Jingli
Published in:
Neuromolecular medicine
(2014)
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Ji
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Kunqian
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10
Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation
by:
Yu, Xiaolin
Published in:
Neurological sciences
(2021)
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Kunqian
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11
Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO
by:
Lin, Yan
Published in:
Neurological sciences
(2021)
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Ji
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Related Subjects
Mitochondrial disease
Dystonia
Leigh syndrome
MELAS
MERRF
Mitochondrial DNA
PEO
(GCN) expansion
)
A475P
Autosomal dominant progressive external ophthalmoplegia
Bezafibrate
Biomarker
C15620A
Chinese population
Complex I
G11778A
Growth differentiation factor 15
Histology
LHON
Large deletion
Leber hereditary optic neuropathy
Missense variant
Mitochondrial DNA (mtDNA)
Mitochondrial DNA mutation
Mitochondrial tRNA
Mutation
Neuromuscular disorders
OPMD
Oculopharyngeal muscular dystrophy
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