Works matching Mitochondrial diseases

Results: 5000
    1
    2
    3
    4
    5
    6

    Mitochondrial disease in New Zealand: a nationwide prevalence study.

    Published in:
    Internal Medicine Journal, 2024, v. 54, n. 3, p. 388, doi. 10.1111/imj.16211
    By:
    • Missen, Sarah;
    • Wilson, Callum;
    • Potter, Howard;
    • Vincent, Andrea L.;
    • Murphy, Rinki;
    • Roxburgh, Richard;
    • Rodrigues, Miriam;
    • Poke, Gemma;
    • Robertson, Stephen P.;
    • Thorburn, David R.;
    • Glamuzina, Emma
    Publication type:
    Article
    7
    8
    9
    10
    11

    Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.

    Published in:
    Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
    By:
    • Ticci, Chiara;
    • Orsucci, Daniele;
    • Ardissone, Anna;
    • Bello, Luca;
    • Bertini, Enrico;
    • Bonato, Irene;
    • Bruno, Claudio;
    • Carelli, Valerio;
    • Diodato, Daria;
    • Doccini, Stefano;
    • Donati, Maria Alice;
    • Dosi, Claudia;
    • Filosto, Massimiliano;
    • Fiorillo, Chiara;
    • La Morgia, Chiara;
    • Lamperti, Costanza;
    • Marchet, Silvia;
    • Martinelli, Diego;
    • Minetti, Carlo;
    • Moggio, Maurizio
    Publication type:
    Article
    12

    Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 3, p. 896, doi. 10.1093/brain/awae277
    By:
    • Smeitink, Jan;
    • Es, Just van;
    • Bosman, Brigitte;
    • Janssen, Mirian C H;
    • Klopstock, Thomas;
    • Gorman, Grainne;
    • Vissing, John;
    • Ruiterkamp, Gerrit;
    • Edgar, Chris J;
    • Abbink, Evertine J;
    • Maanen, Rob van;
    • Pogoryelova, Oksana;
    • Stendel, Claudia;
    • Bischoff, Almut;
    • Karin, Ivan;
    • Munshi, Mahtab;
    • Kümmel, Anne;
    • Burgert, Lydia;
    • Verhaak, Christianne;
    • Renkema, Herma
    Publication type:
    Article
    13
    14
    15
    16
    17
    18
    19
    20
    21

    Characterization of the renal phenotype in RMND1‐related mitochondrial disease.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.973
    By:
    • Shayota, Brian J.;
    • Le, Nhon T.;
    • Bekheirnia, Nasim;
    • Rosenfeld, Jill A.;
    • Goldstein, Amy C.;
    • Moritz, Michael;
    • Bartholomew, Dennis W.;
    • Pastore, Matthew T.;
    • Xia, Fan;
    • Eng, Christine;
    • Yang, Yaping;
    • Lamb, Dolores J.;
    • Scaglia, Fernando;
    • Braun, Michael C.;
    • Bekheirnia, Mir Reza
    Publication type:
    Article
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32
    33
    34

    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

    Published in:
    Kidney Diseases, 2022, v. 8, n. 2, p. 148, doi. 10.1159/000521148
    By:
    • Parasyri, Maria;
    • Brandström, Per;
    • Uusimaa, Johanna;
    • Ostergaard, Elsebet;
    • Hikmat, Omar;
    • Isohanni, Pirjo;
    • Naess, Karin;
    • de Coo, I.F.M.;
    • Nascimento Osorio, Andrés;
    • Nuutinen, Matti;
    • Lindberg, Christopher;
    • Bindoff, Laurence A.;
    • Tulinius, Már;
    • Darin, Niklas;
    • Sofou, Kalliopi
    Publication type:
    Article
    35

    A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 119, doi. 10.3233/JND-221526
    By:
    • Giannese, Domenico;
    • Montano, Vincenzo;
    • Lopriore, Piervito;
    • Nesti, Claudia;
    • LoGerfo, Annalisa;
    • Caligo, Maria Adelaide;
    • Dal Canto, Flavio;
    • Pasquinelli, Gianandrea;
    • Bonadio, Angelo Giovanni;
    • Moriconi, Diego;
    • Siciliano, Gabriele;
    • Mancuso, Michelangelo
    Publication type:
    Article
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47

    Mitochonic Acid 5 (MA-5), a Derivative of the Plant Hormone Indole-3-Acetic Acid, Improves Survival of Fibroblasts from Patients with Mitochondrial Diseases.

    Published in:
    Tohoku Journal of Experimental Medicine, 2015, v. 236, n. 3, p. 225, doi. 10.1620/tjem.236.225
    By:
    • Takehiro Suzuki;
    • Hiroaki Yamaguchi;
    • Motoi Kikusato;
    • Tetsuro Matsuhashi;
    • Akihiro Matsuo;
    • Takeya Sato;
    • Yuki Oba;
    • Shun Watanabe;
    • Daichi Minaki;
    • Daisuke Saigusa;
    • Hiroko Shimbo;
    • Nobuyoshi Mori;
    • Eikan Mishima;
    • Hisato Shima;
    • Yasutoshi Akiyama;
    • Yoichi Takeuchi;
    • Akinori Yuri;
    • Koichi Kikuchi;
    • Takafumi Toyohara;
    • Chitose Suzuki
    Publication type:
    Article
    48
    49
    50