Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.
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Ageing and Parkinson's disease: why is advancing age the biggest risk factor?Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease.Mitochondrial respiratory dysfunction disturbs neuronal and cardiac lineage commitment of human iPSCs.Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.Respiratory chain deficiency in aged spinal motor neurons.Mitochondrial abnormality associates with type-specific neuronal loss and cell morphology changes in the pedunculopontine nucleus in Parkinson diseaseExtraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.Microangiopathy in the cerebellum of patients with mitochondrial DNA diseaseMitochondrial pathology in progressive cerebellar ataxiaLarge-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial diseaseDisease progression in patients with single, large-scale mitochondrial DNA deletions.The genetics and pathology of mitochondrial disease.Mitochondrial DNA mutations and cognition: a case-series report.Migraine in mitochondrial disorders: Prevalence and characteristics.Review: Central nervous system involvement in mitochondrial diseaseSevere nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.Molecular pathogenesis of polymerase γ-related neurodegeneration.The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.Recent perspectives of pediatric mitochondrial diseases.Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy.Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient.p62/sequestosome-1 knockout delays neurodegeneration induced by Drp1 loss.MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.Mitochondrial dysfunction within the synapses of substantia nigra neurons in Parkinson's disease.
P2860
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P2860
Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Cerebellar ataxia in patients ...... lar clinicopathological study.
@ast
Cerebellar ataxia in patients ...... lar clinicopathological study.
@en
Cerebellar ataxia in patients ...... lar clinicopathological study.
@nl
type
label
Cerebellar ataxia in patients ...... lar clinicopathological study.
@ast
Cerebellar ataxia in patients ...... lar clinicopathological study.
@en
Cerebellar ataxia in patients ...... lar clinicopathological study.
@nl
prefLabel
Cerebellar ataxia in patients ...... lar clinicopathological study.
@ast
Cerebellar ataxia in patients ...... lar clinicopathological study.
@en
Cerebellar ataxia in patients ...... lar clinicopathological study.
@nl
P2093
P2860
P1476
Cerebellar ataxia in patients ...... lar clinicopathological study.
@en
P2093
Amy Katherine Reeve
Douglass Matthew Turnbull
Evelyn Jaros
Nichola Zoe Lax
Philippa Denis Hepplewhite
Robert McFarland
Robert William Taylor
Victoria Nesbitt
P2860
P304
P356
10.1097/NEN.0B013E318244477D
P577
2012-02-01T00:00:00Z