Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course (Q37970121)

26 August 2017

title

Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course (English)

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26 August 2017

1

Giuseppe Limongelli

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26 August 2017

Daniele Masarone

2

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26 August 2017

Raffaella D'Alessandro

series ordinal

3

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26 August 2017

Perry M Elliott

series ordinal

4

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26 August 2017

language of work or name

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1 January 2012

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26 August 2017

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26 August 2017

volume

8

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26 August 2017

issue

1

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26 August 2017

page(s)

71-88

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Energetics and metabolism in the failing heart: important but poorly understood

26 August 2017

cites work

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Energetic state is a strong regulator of sarcoplasmic reticulum Ca2+ loss in cardiac muscle: different efficiencies of different energy sources.

21 January 2018

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Multisystem manifestations of mitochondrial disorders

21 January 2018

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Mitochondrial-nuclear cross-talk in the aging and failing heart

21 January 2018

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21 January 2018

Mitochondrial myopathies

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Sequence and organization of the human mitochondrial genome

21 January 2018

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Mitochondrial DNA transmission, replication and inheritance: a journey from the gamete through the embryo and into offspring and embryonic stem cells

21 January 2018

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Molecular genetics of mitochondrial disorders

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A functionally dominant mitochondrial DNA mutation

21 January 2018

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Mitochondria and the heart

21 January 2018

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21 January 2018

Mitochondrial medicine

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Mitochondrial DNA mutations in human degenerative diseases and aging

21 January 2018

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Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

21 January 2018

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Mitochondrial DNA disorders

21 January 2018

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The expanding clinical spectrum of mitochondrial diseases

21 January 2018

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The incidence of inherited metabolic disorders in the West Midlands, UK.

21 January 2018

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Prevalence of mitochondrial DNA disease in adults

21 January 2018

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Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

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Mitochondrial disease--its impact, etiology, and pathology.

21 January 2018

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A history of mitochondrial diseases.

21 January 2018

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Mitochondrial disorders in the nervous system

21 January 2018

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Systematic identification of human mitochondrial disease genes through integrative genomics

21 January 2018

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The in-depth evaluation of suspected mitochondrial disease

21 January 2018

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Cardiomyopathy in respiratory chain disorders

21 January 2018

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Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies

21 January 2018

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Mitochondrial disease in mouse results in increased oxidative stress

21 January 2018

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Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease

21 January 2018

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Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects

21 January 2018

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Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy

21 January 2018

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Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction

21 January 2018

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The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications

21 January 2018

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The cardiac sarcolemmal ATP-sensitive potassium channel as a novel target for anti-arrhythmic therapy

21 January 2018

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Mitochondria are sources of metabolic sink and arrhythmias

21 January 2018

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Cardiac abnormalities in patients with Leber's hereditary optic neuropathy

21 January 2018

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Diagnostic criteria for respiratory chain disorders in adults and children.

21 January 2018

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The Incidence of Pediatric Cardiomyopathy in Two Regions of the United States

21 January 2018

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

21 January 2018

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Clinical approach to genetic cardiomyopathy in children

21 January 2018

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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

21 January 2018

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Mitochondrial respiratory-chain diseases

21 January 2018

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Mitochondrial DNA mutations in human disease

21 January 2018

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Neuroimaging of mitochondrial disease.

21 January 2018

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EFNS guidelines on the molecular diagnosis of mitochondrial disorders

21 January 2018

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Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

21 January 2018

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Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings

21 January 2018

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Mitochondrial myopathies: diagnosis, exercise intolerance, and treatment options

21 January 2018

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Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.

21 January 2018

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Experimental strategies towards treating mitochondrial DNA disorders

21 January 2018

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A modern approach to the treatment of mitochondrial disease

21 January 2018

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The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease

21 January 2018

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Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring

21 January 2018

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Severe infantile hypotonia with ethylmalonic aciduria: case report

21 January 2018

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Kearns-Sayre syndrome and dilated cardiomyopathy

21 January 2018

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ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Gui

21 January 2018

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Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases

21 January 2018

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Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome

21 January 2018

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Mitochondrial cardiomyopathy: molecular and biochemical analysis

21 January 2018

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A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

21 January 2018

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Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.

21 January 2018

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MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

21 January 2018

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Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

21 January 2018

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

21 January 2018

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

21 January 2018

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Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene

21 January 2018

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A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

21 January 2018

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A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

21 January 2018

1 reference

The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past

21 January 2018

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Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

21 January 2018

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G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome

21 January 2018

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Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene.

21 January 2018

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Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

21 January 2018

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The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria

21 January 2018

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Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.

21 January 2018

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Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy

21 January 2018

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Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.

21 January 2018

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Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients.

21 January 2018

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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

21 January 2018

1 reference

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

21 January 2018

1 reference

Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.

21 January 2018

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

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Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

21 January 2018

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Monitoring phosphorylation of the pyruvate dehydrogenase complex.

21 January 2018

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

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An autosomal locus predisposing to deletions of mitochondrial DNA

21 January 2018

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Mitochondrial defects in cardiomyopathy and neuromuscular disease

21 January 2018

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

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Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

21 January 2018

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21 January 2018

Identifiers

DOI

10.2217/FCA.11.79

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26 August 2017

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