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A Brief History of Mitochondrial Pathologies

International journal of molecular sciences, 2019-11, Vol.20 (22), p.5643

DiMauro, Salvatore

2019

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Mitochondrial Disorders in the Nervous System

Annual review of neuroscience, 2008-01, Vol.31 (1), p.91-123

2008

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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Genetics in medicine, 2015-09, Vol.17 (9), p.689-701

2015

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A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases

Biochimica et biophysica acta, 2009-12, Vol.1792 (12), p.1159-1167

2009

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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Human molecular genetics, 2017-11, Vol.26 (21), p.4257-4266

2017

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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Nature genetics, 2013-02, Vol.45 (2), p.214-219

2013

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A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

American journal of human genetics, 2006-02, Vol.78 (2), p.345-349

2006

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The genetics and pathology of oxidative phosphorylation

Nature reviews. Genetics, 2001-05, Vol.2 (5), p.342-352

2001

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Mitochondrial diseases: therapeutic approaches

Bioscience reports, 2007-06, Vol.27 (1-3), p.125-137

2007

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GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes

Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.534-543

2021

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The many clinical faces of cytochrome c oxidase deficiency

Advances in experimental medicine and biology, 2012-01, Vol.748, p.341

2012

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Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)

Molecular genetics and metabolism, 2022-06, Vol.136 (2), p.125-131

2022

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Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Neurology, 2018-09, Vol.91 (11), p.e1077

2018

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Nature genetics, 2006-05, Vol.38 (5), p.570-575

2006

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Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

Proceedings of the National Academy of Sciences - PNAS, 2013-08, Vol.110 (33), p.13552-13557

2013

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Intersectional Alliances in Soledad Prison: The Exemplary Life of John Brown Childs

Capitalism, nature, socialism, 2021-10, Vol.32 (4), p.17-23

2021

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Approaches to the treatment of mitochondrial diseases

Muscle & nerve, 2006-09, Vol.34 (3), p.265-283

2006

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Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects

PloS one, 2010-07, Vol.5 (7), p.e11897

2010

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A history of mitochondrial diseases

Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.261-276

DiMauro, Salvatore

2011

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Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias

Current neuropharmacology, 2019-01, Vol.17 (1), p.21-32

2019

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Pathogenesis and treatment of mitochondrial disorders

Advances in experimental medicine and biology, 2009-01, Vol.652, p.139

2009

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Human mitochondrial DNA: roles of inherited and somatic mutations

Nature reviews. Genetics, 2012-12, Vol.13 (12), p.878-890

2012

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Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

Human molecular genetics, 2007-05, Vol.16 (9), p.1091-1097

2007

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Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy

PloS one, 2013-03, Vol.8 (3), p.e57195-e57195

2013

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Muscle glycogenoses

Muscle & nerve, 2001-08, Vol.24 (8), p.984-999

2001

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A Brief History of Mitochondrial Pathologies

Mitochondrial Disorders in the Nervous System

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

The genetics and pathology of oxidative phosphorylation

Mitochondrial diseases: therapeutic approaches

GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes

The many clinical faces of cytochrome c oxidase deficiency

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

Intersectional Alliances in Soledad Prison: The Exemplary Life of John Brown Childs

Approaches to the treatment of mitochondrial diseases

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects

A history of mitochondrial diseases

Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias

Pathogenesis and treatment of mitochondrial disorders

Human mitochondrial DNA: roles of inherited and somatic mutations

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy

Muscle glycogenoses

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