(Q37738321)

22 August 2017

1 reference

title

A diagnostic algorithm for metabolic myopathies (English)

1 reference

22 August 2017

0 references

2

Salvatore DiMauro

1 reference

22 August 2017

Andres Berardo

1

1 reference

22 August 2017

Michio Hirano

series ordinal

3

1 reference

22 August 2017

1 March 2010

1 reference

Current Neurology and Neuroscience Reports

22 August 2017

1 reference

22 August 2017

10

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22 August 2017

2

1 reference

22 August 2017

118-126

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Pathogenic mutations of nuclear genes associated with mitochondrial disorders

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Metabolic myopathies: update 2009.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

23 August 2017

Lipid storage myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Tarui disease and distal glycogenoses: clinical and genetic update

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Mitochondrial disorders in the nervous system

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Disorders of nuclear-mitochondrial intergenomic communication

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Disorders of carnitine transport and the carnitine cycle

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

The effect of oral sucrose on exercise tolerance in patients with McArdle's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Very-long-chain acyl-CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Diseases caused by nuclear genes affecting mtDNA stability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

The rotary machine in the cell, ATP synthase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Metabolic myopathies: a clinical approach; part I.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Glycogen storage myopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Neonatal metabolic myopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Energy transduction in ATP synthase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Danon disease: case report and detection of new mutation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Coenzyme Q10 deficiency and isolated myopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

No spontaneous second wind in muscle phosphofructokinase deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Late-onset form of beta-electron transfer flavoprotein deficiency.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2872126

Treatment of McArdle disease

1 September 2018

1 reference

12 December 2020

[Metabolic myopathies in adulthood. Features and clues for diagnosis]

1 reference

12 December 2020

Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome

1 reference

12 December 2020

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis

1 reference

12 December 2020

Clinical syndromes associated with ragged red fibers

1 reference

12 December 2020

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS

1 reference

12 December 2020

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene

1 reference

12 December 2020

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

1 reference

12 December 2020

Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance

1 reference

12 December 2020

A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance

1 reference

12 December 2020

10.1007/S11910-010-0096-4

Identifiers

DOI

1 reference

release_ylcjalfk5rbilat7kkflexp6ri

22 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ylcjalfk5rbilat7kkflexp6ri

24 November 2022

mapped directly with Wikidata item

1 reference

22 August 2017

PubMed publication ID

20425236

1 reference