Metabolic myopathies (Q84630288)

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9 February 2020

title

Metabolic myopathies (English)

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9 February 2020

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9 February 2020

Salvatore DiMauro

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9 February 2020

Ali Naini

series ordinal

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9 February 2020

publication date

1 October 2010

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Current Rheumatology Reports

9 February 2020

published in

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9 February 2020

volume

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9 February 2020

issue

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9 February 2020

page(s)

386-393

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Clinical and genetic analysis of lipid storage myopathies

9 February 2020

cites work

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12 December 2020

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

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12 December 2020

Muscle glycogenosis due to phosphoglucomutase 1 deficiency

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12 December 2020

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

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12 December 2020

C6ORF66 is an assembly factor of mitochondrial complex I

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12 December 2020

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

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12 December 2020

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

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12 December 2020

Endurance exercise is protective for mice with mitochondrial myopathy

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12 December 2020

Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels

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12 December 2020

Multi-system neurological disease is common in patients with OPA1 mutations

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12 December 2020

Calorie restriction increases muscle mitochondrial biogenesis in healthy humans

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12 December 2020

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

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12 December 2020

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

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12 December 2020

Bezafibrate for an inborn mitochondrial beta-oxidation defect.

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12 December 2020

Permanent muscle weakness in McArdle disease

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12 December 2020

Chronic fatigue syndrome and mitochondrial dysfunction

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12 December 2020

Clinical and genetic characterization of Chanarin–Dorfman syndrome

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12 December 2020

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

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12 December 2020

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

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12 December 2020

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

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12 December 2020

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.

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12 December 2020

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

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12 December 2020

Mitochondria and ageing

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12 December 2020

Coenzyme Q10 distribution in blood is altered in patients with fibromyalgia.

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12 December 2020

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

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12 December 2020

Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy

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12 December 2020

Pathogenic mitochondrial DNA mutations are common in the general population

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12 December 2020

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

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12 December 2020

A randomized study of alglucosidase alfa in late-onset Pompe's disease

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12 December 2020

Ventricular cerebrospinal fluid lactate is increased in chronic fatigue syndrome compared with generalized anxiety disorder: an in vivo 3.0 T (1)H MRS imaging study

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12 December 2020

Retracted: Increased muscle PGC-1α expression protects from sarcopenia and metabolic disease during aging

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12 December 2020

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

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12 December 2020

Protean phenotypic features of the A3243G mitochondrial DNA mutation

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12 December 2020

Glycogenin is the priming glucosyltransferase required for the initiation of glycogen biogenesis in rabbit skeletal muscle

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12 December 2020

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

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12 December 2020

Pharmacological and nutritional treatment for McArdle's disease (Glycogen Storage Disease type V)

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12 December 2020

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

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12 December 2020

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

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12 December 2020

RETRACTED: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype

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12 December 2020

The m.3243A>G mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrier

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12 December 2020

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

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12 December 2020

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.

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12 December 2020

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

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12 December 2020

Elimination of antibodies to recombinant enzyme in Pompe's disease.

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12 December 2020

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

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12 December 2020

Mitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseases

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12 December 2020

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

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12 December 2020

Fat metabolism during exercise in patients with McArdle disease.

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12 December 2020

Prevalence of mitochondrial DNA disease in adults

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12 December 2020