תוצאות חיפוש - Serenella Servidei
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Vitamin D in Neurological Diseases מאת Domenico Plantone, Guido Primiano, Carlo Manco, Sara Locci, Serenella Servidei, Nicola De Stefano
יצא לאור 2022Revisão -
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Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency. מאת Ronald G. Haller, S. F. Lewis, R.W. Estabrook, S. DiMauro, Serenella Servidei, Daniel W. Foster
יצא לאור 1989Artigo -
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Prothrombin G20210A Mutant Genotype Is a Risk Factor for Cerebrovascular Ischemic Disease in Young Patients מאת Valerio De Stefano, Patrizia Chiusolo, Katia Paciaroni, Ida Casorelli, Elena Rossi, Marco Molinari, Serenella Servidei, Pietro Tonali, Giuseppe Leone
יצא לאור 1998Artigo -
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γ1- and γ2-Syntrophins, Two Novel Dystrophin-binding Proteins Localized in Neuronal Cells מאת Giulio Piluso, Massimiliano Mirabella, Enzo Ricci, Angela Belsito, Ciro Abbondanza, Serenella Servidei, Annibale Alessandro Puca, P. Tonali, Giovanni Alfredo Puca, Vincenzo Nigro
יצא לאור 2000Artigo -
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Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases מאת 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
יצא לאור 2012Revisão -
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Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy מאת 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
יצא לאור 1990Revisão -
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Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 מאת 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
יצא לאור 2012Artigo -
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Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs מאת 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
יצא לאור 2022Revisão -
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Macrophages excite muscle spindles with glutamate to bolster locomotion מאת 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
יצא לאור 2024Artigo -
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Genotype-phenotype correlation in Pompe disease, a step forward מאת 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
יצא לאור 2014Artigo -
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Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years מאת 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
יצא לאור 2011Artigo -
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The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway מאת 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
יצא לאור 2004Artigo -
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Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes מאת 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
יצא לאור 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... מאת 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
יצא לאור 2022Artigo -
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Management of seizures in patients with primary mitochondrial diseases: consensus statement from the <scp>InterERNs</scp> Mitochondrial Working Group מאת 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
יצא לאור 2024Artigo -
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Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration מאת 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
יצא לאור 2018Artigo
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