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Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
De Filippi, Paola; Errichiello, Edoardo; Toscano, Antonio; Mongini, Tiziana; Moggio, Maurizio; Ravaglia, Sabrina; Filosto, Massimiliano; Servidei, Serenella; Musumeci, Olimpia; Giannini, Fabio; Piperno, Alberto; Siciliano, Gabriele; Ricci, Giulia; Di Muzio, Antonio; Rigoldi, Miriam; Tonin, Paola; Croce, Michele Giovanni; Pegoraro, Elena; Politano, Luisa; Maggi, Lorenzo; Telese, Roberta; Lerario, Alberto; Sancricca, Cristina; Vercelli, Liliana; Semplicini, Claudio; Pasanisi, Barbara; Bembi, Bruno; Dardis, Andrea; Palmieri, Ilaria; Cereda, Cristina; Valente, Enza Maria; Danesino, Cesare.
Affiliation
  • De Filippi P; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Errichiello E; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Toscano A; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
  • Mongini T; ERN-NMD Center of Messina for Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
  • Moggio M; Neuromuscular Unit, Department of Neuroscience RLM, University of Torino, 10126 Torino, Italy.
  • Ravaglia S; Neuromuscular and Rare Diseases Unit, BioBank of Skeletal Muscle, Peripheral Nerve, DNA and Dino Ferrari Center, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.
  • Filosto M; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Servidei S; Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, 25121 Brescia, Italy.
  • Musumeci O; Department of Neuroscience, Catholic University, 00100 Rome, Italy.
  • Giannini F; Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
  • Piperno A; Department of Medical, Surgical and Neurological Sciences, University of Siena, "Le Scotte" Hospital, 53100 Siena, Italy.
  • Siciliano G; Fondazione IRCCS San Gerardo, Centro Ricerca Testamenti, Monza-European Reference Network-MetabERN, 20900 Monza, Italy.
  • Ricci G; Department of Clinical and Experimental Medicine, Neurological Clinics, University of Pisa, 56100 Pisa, Italy.
  • Di Muzio A; Department of Clinical and Experimental Medicine, Neurological Clinics, University of Pisa, 56100 Pisa, Italy.
  • Rigoldi M; Centre for Neuromuscular Disease, CeSI, University "G. d'Annunzio", 66100 Chieti, Italy.
  • Tonin P; Dipartimento di Ricerca Malattie Rare, Istituto Mario Negri IRCCS, 24020 Ranica, Italy.
  • Croce MG; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, 37100 Verona, Italy.
  • Pegoraro E; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Politano L; Department of Neurosciences, University of Padova, 35100 Padova, Italy.
  • Maggi L; Cardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, 80100 Napoli, Italy.
  • Telese R; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20100 Milano, Italy.
  • Lerario A; Centre for Neuromuscular Disease, CeSI, University "G. d'Annunzio", 66100 Chieti, Italy.
  • Sancricca C; Neuromuscular and Rare Diseases Unit, BioBank of Skeletal Muscle, Peripheral Nerve, DNA and Dino Ferrari Center, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.
  • Vercelli L; Department of Neuroscience, Catholic University, 00100 Rome, Italy.
  • Semplicini C; Neuromuscular Unit, Department of Neuroscience RLM, University of Torino, 10126 Torino, Italy.
  • Pasanisi B; Department of Neurosciences, University of Padova, 35100 Padova, Italy.
  • Bembi B; Cardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, 80100 Napoli, Italy.
  • Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital "Santa Maria della Misericordia", 33100 Udine, Italy.
  • Palmieri I; Regional Coordinator Centre for Rare Diseases, University Hospital "Santa Maria della Misericordia", 33100 Udine, Italy.
  • Cereda C; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Valente EM; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
  • Danesino C; Center of Functional Genomic and Rare Diseases-Buzzi Children's Hospital, 20100 Milano, Italy.
Curr Issues Mol Biol ; 45(4): 2847-2860, 2023 Apr 01.
Article in En | MEDLINE | ID: mdl-37185710
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Qualitative_research Language: En Journal: Curr Issues Mol Biol Year: 2023 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Qualitative_research Language: En Journal: Curr Issues Mol Biol Year: 2023 Document type: Article