Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
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A neurodegenerative perspective on mitochondrial optic neuropathiesAge-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans.Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model.Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Mitochondrial dynamics in the regulation of neurogenesis: From development to the adult brain.Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
P2860
Q28072026-9C682FE6-E158-400D-A454-36BFAEA38F45Q33773474-583029B4-B325-4CB0-AF5B-E79DDDD90224Q33863511-284C1927-4903-4017-9435-7CD708308B5BQ36159289-C53A620E-E9D6-43A5-959E-9F8BBB091699Q37342031-5AD2D966-EA68-46EB-A5D6-8B13343B4D81Q39393372-48D73653-345D-47D8-BCA9-82C022737754Q40470383-26E80D02-F2B3-4B45-B73A-45BDDCA76C6AQ42236974-349E4E9B-3DD5-46B4-A62C-FDB97E02A8D7
P2860
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Fatal infantile mitochondrial ...... th a homozygous OPA1 mutation.
@ast
Fatal infantile mitochondrial ...... th a homozygous OPA1 mutation.
@en
type
label
Fatal infantile mitochondrial ...... th a homozygous OPA1 mutation.
@ast
Fatal infantile mitochondrial ...... th a homozygous OPA1 mutation.
@en
prefLabel
Fatal infantile mitochondrial ...... th a homozygous OPA1 mutation.
@ast
Fatal infantile mitochondrial ...... th a homozygous OPA1 mutation.
@en
P2093
P2860
P50
P1476
Fatal infantile mitochondrial ...... th a homozygous OPA1 mutation.
@en
P2093
Avraham Shaag
Devorah Soiferman
Eugene Vladovski
Florence Burté
Hanna Mandel
Morad Khayat
Ora Schuler-Furman
Orly Elpeleg
Padraig J Flannery
Robert W Taylor
P2860
P304
P356
10.1136/JMEDGENET-2015-103361
P407
P577
2015-11-11T00:00:00Z