Works matching Mitochondrial diseases

Results: 5000
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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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    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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    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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    Polydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation.

    Published in:
    Biomolecules (2218-273X), 2024, v. 14, n. 5, p. 598, doi. 10.3390/biom14050598
    By:
    • Cilleros-Holgado, Paula;
    • Gómez-Fernández, David;
    • Piñero-Pérez, Rocío;
    • Romero Domínguez, José Manuel;
    • Talaverón-Rey, Marta;
    • Reche-López, Diana;
    • Suárez-Rivero, Juan Miguel;
    • Álvarez-Córdoba, Mónica;
    • Romero-González, Ana;
    • López-Cabrera, Alejandra;
    • Oliveira, Marta Castro De;
    • Rodríguez-Sacristan, Andrés;
    • Sánchez-Alcázar, José Antonio
    Publication type:
    Article
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    Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 23, p. 16746, doi. 10.3390/ijms242316746
    By:
    • Conti, Federica;
    • Di Martino, Serena;
    • Drago, Filippo;
    • Bucolo, Claudio;
    • Micale, Vincenzo;
    • Montano, Vincenzo;
    • Siciliano, Gabriele;
    • Mancuso, Michelangelo;
    • Lopriore, Piervito
    Publication type:
    Article
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    mtUPR Modulation as a Therapeutic Target for Primary and Secondary Mitochondrial Diseases.

    Published in:
    2023
    By:
    • Cilleros-Holgado, Paula;
    • Gómez-Fernández, David;
    • Piñero-Pérez, Rocío;
    • Reche-López, Diana;
    • Álvarez-Córdoba, Mónica;
    • Munuera-Cabeza, Manuel;
    • Talaverón-Rey, Marta;
    • Povea-Cabello, Suleva;
    • Suárez-Carrillo, Alejandra;
    • Romero-González, Ana;
    • Suárez-Rivero, Juan Miguel;
    • Romero-Domínguez, Jose Manuel;
    • Sánchez-Alcázar, Jose Antonio
    Publication type:
    Literature Review
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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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