(Q30474594)

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Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749722%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749722%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

mitochondrial DNA

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1 reference

based on heuristic

inferred from title

3

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7 February 2020

15

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7 February 2020

1

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7 February 2020

4

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7 February 2020

8

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7 February 2020

Angela Berardinelli

13

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7 February 2020

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Alessandra Cosi

2

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7 February 2020

Francesco Fortunato

6

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Europe PubMed Central

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7 February 2020

Mafalda Rizzuti

7

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7 February 2020

Martina Collotta

9

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Europe PubMed Central

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7 February 2020

Sophie Cagdas

10

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Europe PubMed Central

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7 February 2020

Giuseppe Capovilla

11

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Europe PubMed Central

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7 February 2020

Pierangelo Veggiotti

14

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7 February 2020

Andreina Bordoni

5

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Europe PubMed Central

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7 February 2020

Maurizio Moggio

12

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7 February 2020

publication date

12 July 2011

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Europe PubMed Central

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7 February 2020

1 reference

Europe PubMed Central

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7 February 2020

11

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Europe PubMed Central

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7 February 2020

85

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Europe PubMed Central

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7 February 2020

Recent advances in the genetics of mitochondrial encephalopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3148968

20 June 2018

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3148968

20 June 2018

Inherited mitochondrial optic neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3148968

20 June 2018

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3148968

20 June 2018

Pathogenic mitochondrial DNA mutations in protein-coding genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3148968

20 June 2018

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3148968

20 June 2018

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3148968

20 June 2018

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3148968

20 June 2018

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-85

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-85

21 January 2018

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-85

21 January 2018

'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3148968

26 November 2018

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

1 reference

https://pubmed.ncbi.nlm.nih.gov/21749722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21749722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21749722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21749722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2377-11-85

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21749722%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2377-11-85

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

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7 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

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7 February 2020

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