Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations (Q33665085)

28 July 2017

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations (English)

1 reference

28 July 2017

spinocerebellar ataxia

1 reference

Gerald Pfeffer

1

0 references

Charlotte L Alston

Charlotte L Alston

3

0 references

David C. Samuels

David C Samuels

7

0 references

Rita Horvath

Rita Horvath

6

0 references

Patrick F. Chinnery

9

Patrick F Chinnery

1 reference

28 July 2017

2

Emma L Blakely

1 reference

PubMed ID

22577227

28 July 2017

Robert William Taylor

8

Robert W Taylor

1 reference

28 July 2017

4

Adam Hassani

1 reference

28 July 2017

5

Mike Boggild

1 reference

PubMed ID

22577227

28 July 2017

language of work or name

English

0 references

publication date

10 May 2012

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

28 July 2017

1 reference

28 July 2017

83

1 reference

28 July 2017

883-886

1 reference

28 July 2017

9

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

21 June 2018

Mitochondrial ataxias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4034166

Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22577227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22577227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JNNP-2012-302568

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

PubMed ID

22577227