Showing 1 - 6 results of 6 for search 'Filippo M. Santorelli', query time: 0.06s Refine Results
  1. 1
    Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

    Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction by Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli, Vittoria Petruzzella

    Published 2021
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  2. 2
    Long term follow-up in two siblings with Sengers syndrome: Case report

    Long term follow-up in two siblings with Sengers syndrome: Case report by Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno

    Published 2022
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  3. 3
    Congenital myopathies: clinical phenotypes and new diagnostic tools

    Congenital myopathies: clinical phenotypes and new diagnostic tools by Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M. Santorelli, the Italian Network on Congenital Myopathies

    Published 2017
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  4. 4
    VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

    VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype by Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu

    Published 2019
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  5. 5
    Identification of a Thyroid Hormone Derivative as a Pleiotropic Agent for the Treatment of Alzheimer's Disease

    Identification of a Thyroid Hormone Derivative as a Pleiotropic Agent for the Treatment of Alzheimer's Disease by Massimiliano Runfola, Michele Perni, Xiaoting Yang, Maria Marchese, Andrea Bacci, Serena Mero, Filippo M. Santorelli, Beatrice Polini, Grazia Chiellini, Daniela Giuliani, Antonietta Vilella, Martina Bodria, Eleonora Daini, Eleonora Vandini, Simon Rudge, Sheraz Gul, Michale O. J. Wakelam, Michele Vendruscolo, Simona Rapposelli

    Published 2021
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  6. 6
    PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients

    PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients by Alessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, Marta Giacomello, Chiara Frascarelli, Ana Paula Magalhaes Rebelo, Laurence A. Bindoff, Segel Reeval, Paul Renbaum, Filippo M. Santorelli, Giulia Massaro, Carlo Viscomi, Massimo Zeviani, Daniele Ghezzi, Daniele Ghezzi, Emanuela Bottani, Dario Brunetti, Dario Brunetti

    Published 2023
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