Works matching Mitochondrial diseases

Results: 5000
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    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
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    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
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    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
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    Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.

    Published in:
    Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00278-0
    By:
    • Tsang, Mandy H.Y.;
    • Kwong, Anna K.Y.;
    • Chan, Kate L.S.;
    • Fung, Jasmine L.F.;
    • Yu, Mullin H.C.;
    • Mak, Christopher C.Y.;
    • Yeung, Kit-San;
    • Rodenburg, Richard J.T.;
    • Smeitink, Jan A.M.;
    • Chan, Rachel;
    • Tsoi, Thomas;
    • Hui, Joannie;
    • Wong, Shelia S.N;
    • Tai, Shuk-Mui;
    • Chan, Victor C.M.;
    • Ma, Che-Kwan;
    • Fung, Sharon T.H.;
    • Wu, Shun-Ping;
    • Chak, W.K.;
    • Chung, Brian H.Y.
    Publication type:
    Article
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    Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

    Published in:
    PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0214250
    By:
    • Kahn-Kirby, Amanda H.;
    • Amagata, Akiko;
    • Maeder, Celine I.;
    • Mei, Janet J.;
    • Sideris, Steve;
    • Kosaka, Yuko;
    • Hinman, Andrew;
    • Malone, Stephanie A.;
    • Bruegger, Joel J.;
    • Wang, Leslie;
    • Kim, Virna;
    • Shrader, William D.;
    • Hoff, Kevin G.;
    • Latham, Joey C.;
    • Ashley, Euan A.;
    • Wheeler, Matthew T.;
    • Bertini, Enrico;
    • Carrozzo, Rosalba;
    • Martinelli, Diego;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
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    Abnormal growth in mitochondrial disease.

    Published in:
    Acta Paediatrica, 2009, v. 98, n. 3, p. 553, doi. 10.1111/j.1651-2227.2008.01148.x
    By:
    • Wolny, S.;
    • McFarland, R.;
    • Chinnery, P.;
    • Cheetham, T.
    Publication type:
    Article
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    Dose-dependent effects of mTOR inhibition on weight and mitochondrial disease in mice.

    Published in:
    Frontiers in Genetics, 2015, p. 1, doi. 10.3389/fgene.2015.00247
    By:
    • Johnson, Simon C.;
    • Yanos, Melana E.;
    • Bitto, Alessandro;
    • Castanza, Anthony;
    • Gagnidze, Arni;
    • Gonzalez, Brenda;
    • Gupta, Kanav;
    • Hui, Jessica;
    • Jarvie, Conner;
    • Johnson, Brittany M.;
    • Letexier, Nicolas;
    • McCanta, Lanny;
    • Sangesland, Maya;
    • Tamis, Oliver;
    • Uhde, Lauren;
    • Van Den Ende, Alex;
    • Rabinovitch, Peter S.;
    • Suh, Yousin;
    • Kaeberlein, Matt
    Publication type:
    Article
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    The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseases.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 12, p. 1072, doi. 10.1093/hmg/ddaf061
    By:
    • Almyre, Claire;
    • Bounaix, Nolwenn;
    • Godard, François;
    • Baris, Olivier R;
    • Cayer, Anne-Louise;
    • Sardin, Elodie;
    • Bouhier, Marine;
    • Hoarau, Anaïs;
    • Dard, Laetitia;
    • Richard, Jérémy;
    • Bergeron, Vanessa;
    • Renaud, Aurélie;
    • Loaëc, Nadege;
    • Gueguen, Naïg;
    • Desquiret-Dumas, Valérie;
    • Lelievre, Bénédicte;
    • Inisan, Aurore;
    • Panozzo, Cristina;
    • Dujardin, Genevève;
    • Blondel, Marc
    Publication type:
    Article
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    The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.

    Published in:
    Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 2, p. 141, doi. 10.5114/pedm.2022.116116
    By:
    • Wesół-Kucharska, Dorota;
    • Rokicki, Dariusz;
    • Greczan, Milena;
    • Kaczor, Magdalena;
    • Czekuć-Kryśkiewicz, Edyta;
    • Piekutowska-Abramczuk, Dorota;
    • Halat-Wolska, Paulina;
    • Ciara, Elżbieta;
    • Jaworski, Maciej;
    • Jezela-Stanek, Aleksandra
    Publication type:
    Article
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    Expanding and validating the biomarkers for mitochondrial diseases.

    Published in:
    Journal of Molecular Medicine, 2020, v. 98, n. 10, p. 1467, doi. 10.1007/s00109-020-01967-y
    By:
    • Maresca, Alessandra;
    • Del Dotto, Valentina;
    • Romagnoli, Martina;
    • La Morgia, Chiara;
    • Di Vito, Lidia;
    • Capristo, Mariantonietta;
    • Valentino, Maria Lucia;
    • Carelli, Valerio
    Publication type:
    Article
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