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Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation.
Colombo, Irene; Pagliarani, Serena; Testolin, Silvia; Cinnante, Claudia Maria; Fagiolari, Gigliola; Ciscato, Patrizia; Bordoni, Andreina; Fortunato, Francesco; Magri, Francesca; Previtali, Stefano Carlo; Velardo, Daniele; Sciacco, Monica; Comi, Giacomo Pietro; Moggio, Maurizio.
Afiliación
  • Colombo I; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Pagliarani S; Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Testolin S; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Cinnante CM; Unit of Neuroradiology, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Fagiolari G; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Ciscato P; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Bordoni A; Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Fortunato F; Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Magri F; Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Previtali SC; Division of Neuroscience and Department of Neurology, Institute of Experimental Neurology (INSPE), IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Velardo D; Division of Neuroscience and Department of Neurology, Institute of Experimental Neurology (INSPE), IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Sciacco M; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Comi GP; Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Dino Ferrari Centre, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Moggio M; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
J Neurol Neurosurg Psychiatry ; 87(7): 797-800, 2016 07.
Article en En | MEDLINE | ID: mdl-26203156
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Glicoproteínas / Enfermedad del Almacenamiento de Glucógeno / Músculo Esquelético / Glucosiltransferasas / Enfermedades del Sistema Nervioso Límite: Aged / Female / Humans / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2016 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Glicoproteínas / Enfermedad del Almacenamiento de Glucógeno / Músculo Esquelético / Glucosiltransferasas / Enfermedades del Sistema Nervioso Límite: Aged / Female / Humans / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2016 Tipo del documento: Article País de afiliación: Italia