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  1. 1
    Impairment of skeletal muscle adenosine triphosphate–sensitive K+ channels in patients with hypokalemic periodic paralysis

    Impairment of skeletal muscle adenosine triphosphate–sensitive K+ channels in patients with hypokalemic periodic paralysis av Domenico Tricarico, Serenella Servidei, P. Tonali, Karin Jurkat‐Rott, Diana Conte Camerino

    Publicerad 1999
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  2. 2
    Vitamin D in Neurological Diseases

    Vitamin D in Neurological Diseases av Domenico Plantone, Guido Primiano, Carlo Manco, Sara Locci, Serenella Servidei, Nicola De Stefano

    Publicerad 2022
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  3. 3
    MHC class I, MHC class II and intercellular adhesion molecule-1 (ICAM-1) expression in inflammatory myopathies

    MHC class I, MHC class II and intercellular adhesion molecule-1 (ICAM-1) expression in inflammatory myopathies av Emanuela Bartoccioni, Stefania Gallucci, Flavia Scuderi, Enzo Ricci, Serenella Servidei, Aldobrando Broccolini, P. Tonali

    Publicerad 1994
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  4. 4
    Focal status epilepticus as unique clinical feature of COVID-19: A case report

    Focal status epilepticus as unique clinical feature of COVID-19: A case report av Catello Vollono, Eleonora Rollo, Marina Romozzi, Giovanni Frisullo, Serenella Servidei, Alberto Borghetti, Paolo Calabresi

    Publicerad 2020
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  5. 5
    Acute myopathic quadriplegia in patients with COVID-19 in the intensive care unit

    Acute myopathic quadriplegia in patients with COVID-19 in the intensive care unit av Francesca Madia, Barbara Merico, Guido Primiano, Salvatore Lucio Cutuli, Gennaro De Pascale, Serenella Servidei

    Publicerad 2020
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  6. 6
    Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency.

    Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency. av Ronald G. Haller, S. F. Lewis, R.W. Estabrook, S. DiMauro, Serenella Servidei, Daniel W. Foster

    Publicerad 1989
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  7. 7
    Prothrombin G20210A Mutant Genotype Is a Risk Factor for Cerebrovascular Ischemic Disease in Young Patients

    Prothrombin G20210A Mutant Genotype Is a Risk Factor for Cerebrovascular Ischemic Disease in Young Patients av Valerio De Stefano, Patrizia Chiusolo, Katia Paciaroni, Ida Casorelli, Elena Rossi, Marco Molinari, Serenella Servidei, Pietro Tonali, Giuseppe Leone

    Publicerad 1998
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  8. 8
    γ1- and γ2-Syntrophins, Two Novel Dystrophin-binding Proteins Localized in Neuronal Cells

    γ1- and γ2-Syntrophins, Two Novel Dystrophin-binding Proteins Localized in Neuronal Cells av Giulio Piluso, Massimiliano Mirabella, Enzo Ricci, Angela Belsito, Ciro Abbondanza, Serenella Servidei, Annibale Alessandro Puca, P. Tonali, Giovanni Alfredo Puca, Vincenzo Nigro

    Publicerad 2000
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  9. 9
    Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

    Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases av 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

    Publicerad 2012
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  10. 10
    Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy

    Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy av 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

    Publicerad 1990
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  11. 11
    Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

    Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 av 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

    Publicerad 2012
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  12. 12
    Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs

    Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs av 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

    Publicerad 2022
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  13. 13
    Macrophages excite muscle spindles with glutamate to bolster locomotion

    Macrophages excite muscle spindles with glutamate to bolster locomotion av 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

    Publicerad 2024
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  14. 14
    Genotype-phenotype correlation in Pompe disease, a step forward

    Genotype-phenotype correlation in Pompe disease, a step forward av 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

    Publicerad 2014
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  15. 15
    Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

    Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years av 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

    Publicerad 2011
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  16. 16
    The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

    The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway av 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

    Publicerad 2004
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  17. 17
    Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes

    Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes av 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

    Publicerad 2021
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  18. 18
    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

    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... av 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

    Publicerad 2022
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  19. 19
    Management of seizures in patients with primary mitochondrial diseases: consensus statement from the <scp>InterERNs</scp> Mitochondrial Working Group

    Management of seizures in patients with primary mitochondrial diseases: consensus statement from the <scp>InterERNs</scp> Mitochondrial Working Group av 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

    Publicerad 2024
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  20. 20
    Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration

    Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration av 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

    Publicerad 2018
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