检索结果 - Serenella Servidei
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Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases 由 Michelangelo Mancuso, C. Angelini, Enrico Bertini, Valério Carelli, Giacomo P. Comi, Carlo Minetti, Maurizio Moggio, Tiziana Mongini, Serenella Servidei, Paola Tonin, António Toscano, Graziella Uziel, Massimo Zeviani, Gabriele Siciliano
出版 2012Revisão -
10
Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy 由 Ingrid Tein, Darryl C. De Vivo, F Z Bierman, P Pulver, Linda J. De Meirleir, Ljerka Cvitanović-Šojat, Roberta A Pagon, Enrico Bertini, Carlo Dionisi‐Vici, Serenella Servidei, S. DiMauro
出版 1990Revisão -
11
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 由 Jianping Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Mónica Bayés, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda, Stéphane Carpentier, Nathalie Andrieu‐Abadie, Marta Gut, Thierry Levade, Haluk Topaloğlu, Judith Melki
出版 2012Artigo -
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Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs 由 Vincenzo Tragni, Guido Primiano, Albina Tummolo, Lucas Cafferati Beltrame, Gianluigi La Piana, Maria Noemi Sgobba, Maria Maddalena Cavalluzzi, Giulia Paterno, Ruggiero Gorgoglione, Mariateresa Volpicella, Lorenzo Guerra, Domenico Marzulli, Serenella Servidei, Anna Grassi, Giuseppe Petrosillo, Giovanni Lentini, Ciro Leonardo Pierri
出版 2022Revisão -
13
Macrophages excite muscle spindles with glutamate to bolster locomotion 由 Yuyang Yan, Nuria Antolin, Luming Zhou, Luyang Xu, Irene Lisa Vargas, Carlos Gómez, Guiping Kong, Ilaria Palmisano, Yi Yang, Jessica Chadwick, Franziska Mueller, Anthony M. J. Bull, Cristina Lo Celso, Guido Primiano, Serenella Servidei, Jean‐Françóis Perrier, Carmelo Bellardita, Simone Di Giovanni
出版 2024Artigo -
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Genotype-phenotype correlation in Pompe disease, a step forward 由 Paola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, Andrea Dardis, C. Angelini, Tiziana Mongini, Lucia Morandi, Maurizio Moggio, Antonio Di Muzio, Massimiliano Filosto, Bruno Bembi, Fabio Giannini, Giovanni Marrosu, Miriam Rigoldi, Paola Tonin, Serenella Servidei, Gabriele Siciliano, Annalisa Carlucci, Claudia Scotti, Mario Comelli, António Toscano, Cesare Danesino
出版 2014Artigo -
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Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years 由 C. Angelini, Claudio Semplicini, Sabrina Ravaglia, Bruno Bembi, Serenella Servidei, Elena Pegoraro, Maurizio Moggio, Massimiliano Filosto, Elisabetta Sette, Grazia Crescimanno, Paola Tonin, Rossella Parini, Lucia Morandi, Maria Giovanna Marrosu, Giuseppe Greco, Olimpia Musumeci, Giuseppe Di Iorio, Gabriele Siciliano, Maria Alice Donati, Francesca Carubbi, Mario Ermani, Tiziana Mongini, António Toscano
出版 2011Artigo -
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The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway 由 Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H. Ahn, Georg Auburger, Massimo Pandolfo, Hubert Kwieciński, David A. Grimes, Anthony E. Lang, Jørgen E. Nielsen, Yuri Averyanov, Serenella Servidei, Andrzej Friedman, Patrick Van Bogaert, Marc Abramowicz, Michiko Kimura Bruno, Beatrice F. Sorensen, Ling Tang, Ying‐Hui Fu, Louis J. Ptáček
出版 2004Artigo -
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Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes 由 Chiara Pizzamiglio, Hallgeir Jonvik, Stefen Brady, Patrick F. Chinnery, Lucía Galán, Gráinne S. Gorman, Alejandro Horga, Rita Horváth, Mirian C. H. Janssen, Albert Lim, Michelangelo Mancuso, Robert McFarland, Mária Judit Molnár, Olimpia Musumeci, Victoria Nesbitt, Wladimir, Guido Primiano, Ernestina Santos, Serenella Servidei, Rhys H. Thomas, Michael G. Hanna, Pedro Machado, Robert D. S. Pitceathly
出版 2021Artigo -
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Factors associated with the severity of <scp>COVID</scp>‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular <scp>COVID</scp>‐19 Registry... 由 Chiara Pizzamiglio, Robert D. S. Pitceathly, Michael P. Lunn, Stefen Brady, Fabiola De Marchi, Lucía Galán, Jeannine M. Heckmann, Alejandro Horga, Mária Judit Molnár, Acary Sousa Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto, Guido Primiano, Ernestina Santos, Benedikt Schoser, Serenella Servidei, Paulo Victor Sgobbi de Souza, Venugopalan Y. Vishnu, Michael G. Hanna, Mazen M. Dimachkie, Pedro Machado
出版 2022Artigo -
19
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the <scp>InterERNs</scp> Mitochondrial Working Group 由 Michelangelo Mancuso, Maria Papadopoulou, Yi Shiau Ng, Anna Ardissone, Marcello Bellusci, Enrico Bertini, Lidia Di Vito, Teresinha Evangelista, Carmen Fons, Omar Hikmat, Rita Horváth, Thomas Klopstock, Cornelia Kornblum, Costanza Lamperti, Laura Licchetta, Mária Judit Molnár, Kristin N. Varhaug, Mar O’Callaghan, Ronit Pressler, Manuel Schiff, Serenella Servidei, Nora Szabó, Gráinne S. Gorman, J. Helen Cross, Shamima Rahman
出版 2024Artigo -
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Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration 由 Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Alice Traversa, Michela Di Nottia, Maria Kousi, Yalda Jamshidi, Andrea Ciolfi, Viviana Caputo, Reza Azizi Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron R. Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda, Gholamreza Shariati, Rosalba Carrozzo, Nicholas Katsanis, Reza Maroofian, Serenella Servidei, Marco Tartaglia
出版 2018Artigo
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