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Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

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Title: Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Authors: Fusto A; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy., Cassandrini D; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy., Fiorillo C; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16147, Genoa, Italy., Codemo V; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy., Astrea G; Department of Neuroscience, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy., D'Amico A; Molecular Medicine Unit, Ospedale Bambin Gesù, 00165, Rome, Italy., Maggi L; Neuroimmunology and Neuromuscular Disorders Unit, Foundation IRCCS Neurological Institute 'C. Besta', 20133, Milan, Italy., Magri F; Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, 20122, Milan, Italy., Pane M; Department of Paediatric Neurology, Catholic University, 00165, Rome, Italy., Tasca G; Unità Operativa Complessa Di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy., Sabbatini D; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy., Bello L; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy., Battini R; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy., Bernasconi P; Neuroimmunology and Neuromuscular Disorders Unit, Foundation IRCCS Neurological Institute 'C. Besta', 20133, Milan, Italy., Fattori F; Department of Neuroscience, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy., Bertini ES; Department of Neuroscience, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy., Comi G; Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, 20122, Milan, Italy., Messina S; Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, 98122, Messina, Italy., Mongini T; SG. Battista Hospital, Neuromuscular Center, University of Turin, 10124, Turin, Italy., Moroni I; Child Neurology Department, Neurological Institute C. Besta Foundation IRCCS, 20133, Milan, Italy., Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16147, Genova, Italy., Berardinelli A; Child and Adolescent Unit, IRCCS C. Mondino Foundation, 27100, Pavia, Italy., Donati A; Metabolic Disease Unit, AOU Meyer Children Hospital, 50139, Florence, Italy., Nigro V; 'Luigi Vanvitelli' University and Telethon Institute of Genetics and Medicine (TIGEM), 80078, Naples, Italy., Pini A; Child Neurology and Psychiatry Unit, IRCCS Istituto Delle Scienze Neurologiche Di Bologna, 40139, Bologna, Italy., Giannotta M; Child Neurology and Psychiatry Unit, IRCCS Istituto Delle Scienze Neurologiche Di Bologna, 40139, Bologna, Italy., Dosi C; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy., Ricci E; Department of Paediatric Neurology, Catholic University, 00165, Rome, Italy., Mercuri E; Department of Paediatric Neurology, Catholic University, 00165, Rome, Italy., Minervini G; Department of Biomedical Sciences, University of Padova, 35128, Padua, Italy., Tosatto S; Department of Biomedical Sciences, University of Padova, 35128, Padua, Italy., Santorelli F; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128, Pisa, Italy., Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16147, Genova, Italy. claudio2246@gmail.com., Pegoraro E; Department of Neurosciences DNS, University of Padova, 35128, Padua, Italy. elena.pegoraro@unipd.it.
Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Apr 15; Vol. 10 (1), pp. 54. Date of Electronic Publication: 2022 Apr 15.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2051-5960
DOI:10.1186/s40478-022-01357-0