Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

Item
http://www.wikidata.org/entity/Q48495900
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesionsClinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case reportPediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy.Association of mitochondrial genetic variation with carotid atherosclerosisCybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation--case report and literature review.Vertical supranuclear gaze palsy in Niemann-Pick type C disease.Leber Hereditary Optic Neuropathy: Bringing the Lab to the Clinic.The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis.Expanding the clinical phenotypes of MT-ATP6 mutations.Childhood-Onset Progressive Dystonia With Mitochondrial DNA G14459A Mutation: Efficacy of Long-Term Sodium Succinate Treatment.Lebersche Optikusneuropathie
P2860

Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

Item
http://www.wikidata.org/entity/Q48495900
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
@en
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
@nl
type
label
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
@en
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
@nl
prefLabel
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
@en
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P356
P1433
P1476
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698