(Q34549981)

3 August 2017

0 references

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome (English)

1 reference

3 August 2017

7

Stefania Corti

1 reference

3 August 2017

10

Maurizio Moggio

1 reference

3 August 2017

9

Monica Sciacco

1 reference

3 August 2017

3

Andreina Bordoni

1 reference

3 August 2017

Antonella Cheldi

1

1 reference

3 August 2017

Dario Ronchi

2

1 reference

3 August 2017

Bianca Bordo

4

1 reference

3 August 2017

Silvia Lanfranconi

5

1 reference

3 August 2017

Maria Grazia Bellotti

6

1 reference

3 August 2017

Valeria Lucchini

8

1 reference

3 August 2017

Pierluigi Baron

11

1 reference

3 August 2017

Giacomo Pietro Comi

12

1 reference

3 August 2017

Antonio Colombo

13

1 reference

3 August 2017

Anna Bersano

14

1 reference

3 August 2017

Lombardia GENS collaborators

15

1 reference

3 August 2017

publication date

15 January 2013

1 reference

3 August 2017

1 reference

3 August 2017

volume

13

1 reference

3 August 2017

page(s)

8

1 reference

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570393

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570393

Mitochondrial respiratory-chain diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570393

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570393

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570393

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570393

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570393

Melas: an original case and clinical criteria for diagnosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570393

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

7 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-13-8

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-13-8

MELAS associated with mutations in the POLG1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-13-8

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-13-8

POLG1 Variations Presenting as Multiple Sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-13-8

Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-13-8

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-13-8

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-13-8

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

21 January 2018

1 reference

12 December 2020

Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain

1 reference

12 December 2020

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

1 reference

12 December 2020

POLG mutations and Alpers syndrome

1 reference

12 December 2020

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

1 reference

12 December 2020

MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE

1 reference

12 December 2020

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2377-13-8

1 reference

Dimensions Publication ID

3 August 2017

0 references

1 reference

3 August 2017

1 reference