MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity (Q36318898)

From Wikidata

Jump to navigation Jump to search

The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.

scientific article

Language	Label	Description	Also known as
English	MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

mitochondrial DNA

0 references

1

object named as

Hanna MG

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

John A. Morgan-Hughes

3

object named as

Morgan-Hughes JA

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

author name string

Nelson IP

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Wood NW

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

language of work or name

0 references

publication date

1 October 1998

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

65

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

512-517

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Mitochondrial COII sequences and modern human origins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

A new point mutation associated with mitochondrial encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

Melas: an original case and clinical criteria for diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

30 September 2017

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

Duplications of mitochondrial DNA in mitochondrial myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

29 June 2018

Mitochondrial DNA and RNA processing in MELAS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

22 September 2018

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

22 September 2018

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

22 September 2018

Compilation of tRNA sequences and sequences of tRNA genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

22 September 2018

Magnetic resonance imaging in MELAS syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2170312

22 September 2018

A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9771776

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JNNP.65.4.512

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q36318898&oldid=1936290756"