Unsolved issues related to human mitochondrial diseases-Reference-Cited by-同舟云学术

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Unsolved issues related to human mitochondrial diseases

Published:2014-05 Issue: Volume:100 Page:171-176
ISSN:0300-9084
Container-title:Biochimie
language:en
Short-container-title:Biochimie

Author:

Lombès Anne,Auré Karine,Bellanné-Chantelot Christine,Gilleron Mylène,Jardel Claude

Funder

Association Française contre les Myopathies (AFM)

Association contre les Maladies Mitochondriales (AMMi)

Fondation pour la Recherche Médicale (FRM)

Publisher

Elsevier BV

Subject

General Medicine,Biochemistry

Reference45 articles.

1. Mitochondrial diseases;DiMauro;Biochim. Biophys. Acta,2004

2. Monogenic mitochondrial disorders;Koopman;N. Engl. J. Med.,2012

3. Clinical and molecular features of mitochondrial DNA depletion syndromes;Spinazzola;J. Inherit. Metab. Dis.,2009

4. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation;Riordan-Eva;Brain,1995

5. Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum;Béhin;Neurology,2012

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1. A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies;Orphanet Journal of Rare Diseases;2024-05-16

2. A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.;2023-05-05

3. Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset;Cells;2022-01-30

4. Mitochondrial pathways in human health and aging;Mitochondrion;2020-09

5. Heteroplasmic Variants of Mitochondrial DNA in Atherosclerotic Lesions of Human Aortic Intima;Biomolecules;2019-09-06

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