Concepedia

Mitochondrial Disease

Mitochondrial Disease is a pathological condition characterized by dysfunction of the mitochondrial oxidative phosphorylation system due to genetic mutations in mitochondrial DNA or nuclear genes encoding mitochondrial components.

8.3K

Publications

577.3K

Citations

36.8K

Authors

5.3K

Institutions

Publications per year

2017–2026

2K

Variants

Mitochondrial Diseases

Parents

Children

Publications

8.3K

PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin

Derek P. Narendra, Seok Min Jin, Atsushi Tanaka et al. · PLoS Biology · 2010 · 2.9K citations · Full text

, , +17

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Douglas C. Wallace, Gurparkash Singh, Marie T. Lott et al. · Science · 1988 · 2.4K citations

, , +17

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

Yu‐ichi Goto, Ikuya Nonaka, Satoshi Horai · Nature · 1990 · 2.1K citations

, , +11

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang et al. · Cell · 2008 · 2K citations · Full text

, , +12

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

Ian Holt, A. E. Harding, J A Morgan-Hughes · Nature · 1988 · 1.8K citations

, , +14

1–5 of 8.3K

Authors

36.8K

  1. MZ
    Massimo Zeviani

    Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy

    191 publications · 23.3K citations

    86

    h-index

  2. DM
    Douglass M. Turnbull

    Newcastle University, United Kingdom

    198 publications · 17.8K citations

    73

    h-index

  3. RW
    Robert W. Taylor

    Newcastle University, United Kingdom

    251 publications · 18.3K citations

    72

    h-index

  4. PF
    Patrick F. Chinnery

    Newcastle University, United Kingdom

    152 publications · 16.4K citations

    68

    h-index

  5. MH
    Michio Hirano

    Columbia University Irving Medical Center, United States

    135 publications · 12.8K citations

    66

    h-index

1–5 of 36.8K

Institutions

5.3K

  1. Inserm

    Paris, France

    98 h-index

    2.2K publications

    214.7K citations

  2. Newcastle University

    Newcastle upon Tyne, United Kingdom

    96 h-index

    2.2K publications

    191.3K citations

  3. Columbia University

    New York, United States

    88 h-index

    1.1K publications

    123.6K citations

  4. Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan, Italy

    86 h-index

    693 publications

    73.7K citations

  5. University College London

    London, United Kingdom

    85 h-index

    1.3K publications

    102.4K citations

  6. Wellcome Centre for Mitochondrial Research

    Newcastle upon Tyne, United Kingdom

    84 h-index

    1.8K publications

    148.3K citations

  7. Radboud University Nijmegen

    Nijmegen, The Netherlands

    73 h-index

    1.1K publications

    72.1K citations

  8. Centre National de la Recherche Scientifique

    Paris, France

    71 h-index

    970 publications

    73.6K citations

1–8 of 5.3K

Venues

  1. Human Molecular Genetics

    369 publications · 35.2K citations

    109

    h-index

  2. Annals of Neurology

    207 publications · 26.3K citations

    95

    h-index

  3. Proceedings of the National Academy of Sciences

    PNAS · 128 publications · 26.4K citations

    88

    h-index

  4. The American Journal of Human Genetics

    AJHG · 123 publications · 18.7K citations

    88

    h-index

  5. Neurology

    240 publications · 19.2K citations

    79

    h-index

1–5