Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations - Wikidata - wikimedia - TriplyDB

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

http://www.wikidata.org/entity/Q33665085

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Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6 Understanding structure, function, and mutations in the mitochondrial ATP synthase.Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck Hereditary ataxias: overview.Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.ATP Synthase Diseases of Mitochondrial Genetic Origin.Human diseases associated with defects in assembly of OXPHOS complexes

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Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

http://www.wikidata.org/entity/Q33665085

description

2012 nî lūn-bûn

@nan

2012 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի մայիսին 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

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

@ast

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

@en

type

label

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

@ast

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

@en

prefLabel

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

@ast

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

@en

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JNNP-2012-302568

P1433

Journal of Neurology, Neurosurgery and Psychiatry

P1476

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

@en

P2093

Adam Hassani

http://www.w3.org/2001/XMLSchema#string

Mike Boggild

http://www.w3.org/2001/XMLSchema#string

Robert W Taylor

http://www.w3.org/2001/XMLSchema#string

P2860

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

Mitochondrial ataxias.

Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.

Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids.

Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.

High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

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883-886

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scholarly article

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10.1136/JNNP-2012-302568

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9

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83

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David C. Samuels

Charlotte L Alston

Patrick F. Chinnery

Emma L. Blakely

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2012-05-10T00:00:00Z

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22577227

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P932

4034166

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