Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives by Chiara Pisciotta, Paola Saveri, Davide Pareyson

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Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7^K126R Mutation by Roberta Romano, Victoria Stefania Del Fiore, Paola Saveri, Ilaria Elena Palamà, Chiara Pisciotta, Davide Pareyson, Cecilia Bucci, Flora Guerra

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The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage by Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, Felice Catania, Guido Cavaletti, Maria Carmela Pera, Antonio Toscano, Giuseppe Vita, Lucia Monaco, Davide Pareyson

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The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA) by Lorenzo Blasi, Daniele Sabbatini, Andrea Fortuna, Giorgia Querin, Ilaria Martinelli, Sara Vianello, Cinzia Bertolin, Davide Pareyson, Maria Pennuto, Elena Pegoraro, Luca Bello, Gianni Sorarù

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Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature by Sara Massucco, Cristina Schenone, Elena Faedo, Chiara Gemelli, Emilia Bellone, Emilia Bellone, Lucio Marinelli, Lucio Marinelli, Davide Pareyson, Chiara Pisciotta, Tiziana Mongini, Angelo Schenone, Angelo Schenone, Marina Grandis, Marina Grandis

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Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis. by Valentina Tosetti, Jenny Sassone, Anna L M Ferri, Michela Taiana, Gloria Bedini, Sara Nava, Greta Brenna, Chiara Di Resta, Davide Pareyson, Anna Maria Di Giulio, Stephana Carelli, Eugenio A Parati, Alfredo Gorio

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Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A by Katy Eichinger, Janet E. Sowden, Joshua Burns, Michael P. McDermott, Michael P. McDermott, Jeffrey Krischer, John Thornton, Davide Pareyson, Steven S. Scherer, Michael E. Shy, Mary M. Reilly, David N. Herrmann

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Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy. by Marta Dossena, Gloria Bedini, Paola Rusmini, Elisa Giorgetti, Alessandra Canazza, Valentina Tosetti, Ettore Salsano, Anna Sagnelli, Caterina Mariotti, Cinzia Gellera, Stefania Elena Navone, Giovanni Marfia, Giulio Alessandri, Fabio Corsi, Eugenio Agostino Parati, Davide Pareyson, Angelo Poletti

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Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation by Paola Saveri, Maria De Luca, Veronica Nisi, Chiara Pisciotta, Roberta Romano, Giuseppe Piscosquito, Mary M. Reilly, James M. Polke, Tiziana Cavallaro, Gian Maria Fabrizi, Paola Fossa, Elena Cichero, Raffaella Lombardi, Giuseppe Lauria, Stefania Magri, Franco Taroni, Davide Pareyson, Cecilia Bucci

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hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers by Marco Luigetti, Marina Romozzi, Giulia Bisogni, Davide Cardellini, Tiziana Cavallaro, Andrea Di Paolantonio, Gian Maria Fabrizi, Silvia Fenu, Luca Gentile, Marina Grandis, Gianluca Marucci, Sara Massucco, Anna Mazzeo, Davide Pareyson, Angela Romano, Massimo Russo, Angelo Schenone, Matteo Tagliapietra, Stefano Tozza, Giuseppe Vita, Mario Sabatelli

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Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS by Kayla M. D. Cornett, Manoj P. Menezes, Paula Bray, Rosemary R. Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Tim Estilow, Sabrina W. Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M. Reilly, Richard S. Finkel, Katy J. Eichinger, David N. Herrmann, Michael E. Shy, Joshua Burns, CMTPedS Study Group

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Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients by Claudia Malacarne, Mariarita Galbiati, Eleonora Giagnorio, Paola Cavalcante, Franco Salerno, Francesca Andreetta, Cinza Cagnoli, Michela Taiana, Monica Nizzardo, Stefania Corti, Viviana Pensato, Anna Venerando, Cinzia Gellera, Silvia Fenu, Davide Pareyson, Riccardo Masson, Lorenzo Maggi, Eleonora Dalla Bella, Giuseppe Lauria, Renato Mantegazza, Pia Bernasconi, Angelo Poletti, Silvia Bonanno, Stefania Marcuzzo

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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders by Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista

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Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience by Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini

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