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Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.
Callegari, Ilaria; Gemelli, C; Geroldi, A; Veneri, F; Mandich, P; D'Antonio, M; Pareyson, D; Shy, M E; Schenone, A; Prada, V; Grandis, M.
Afiliación
  • Callegari I; Neuroscience Consortium Monza Policlinico and Pavia Mondino, University of Pavia, Pavia, Italy. ilaria.callegari01@universitadipavia.it.
  • Gemelli C; Department of Neuroscience Rehabilitation Ophthalmology Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genoa, Italy. ilaria.callegari01@universitadipavia.it.
  • Geroldi A; IRCCS Mondino Foundation, Pavia, Italy. ilaria.callegari01@universitadipavia.it.
  • Veneri F; Department of Neuroscience Rehabilitation Ophthalmology Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genoa, Italy.
  • Mandich P; Department of Neuroscience Rehabilitation Ophthalmology Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genoa, Italy.
  • D'Antonio M; Department of Neuroscience Rehabilitation Ophthalmology Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genoa, Italy.
  • Pareyson D; Department of Neuroscience Rehabilitation Ophthalmology Genetics, Maternal and Child Health (DiNOGMI), University of Genova, Genoa, Italy.
  • Shy ME; Ospedale Policlinico San Martino, IRCCS, Largo P. Daneo 3, 16132, Genoa, Italy.
  • Schenone A; Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy.
  • Prada V; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Grandis M; Department of Neurology, University of Iowa Hospitals & Clinics, Iowa City, USA.
J Neurol ; 266(11): 2629-2645, 2019 Nov.
Article en En | MEDLINE | ID: mdl-31278453
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteína P0 de la Mielina Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Neurol Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteína P0 de la Mielina Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Neurol Año: 2019 Tipo del documento: Article País de afiliación: Italia