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Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Cipriani, Silvia; Guerrero-Valero, Marta; Tozza, Stefano; Zhao, Edward; Vollmer, Veith; Beijer, Danique; Danzi, Matt; Rivellini, Cristina; Lazarevic, Dejan; Pipitone, Giovanni Battista; Grosz, Bianca Rose; Lamperti, Costanza; Marzoli, Stefania Bianchi; Carrera, Paola; Devoto, Marcella; Pisciotta, Chiara; Pareyson, Davide; Kennerson, Marina; Previtali, Stefano C; Zuchner, Stephan; Scherer, Steven S; Manganelli, Fiore; Bähler, Martin; Bolino, Alessandra.
Afiliação
  • Cipriani S; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Guerrero-Valero M; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.
  • Zhao E; Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
  • Vollmer V; Department of Biostatistics, University of Washington, Seattle, Washington, USA.
  • Beijer D; Institute of Integrative Cell Biology and Physiology, Westfalian Wilhelms University Münster, Münster, Germany.
  • Danzi M; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.
  • Rivellini C; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.
  • Lazarevic D; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Pipitone GB; Center for Omics Sciences, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Grosz BR; Unit of Genomics for the Diagnosis of Human Pathologies and Laboratory of Clinical and Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Lamperti C; Northcott Neuroscience Laboratory, ANZAC Research Institute Sydney Local Health District and Faculty of Health and Medicine, University of Sydney, Sydney, Australia.
  • Marzoli SB; Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Carrera P; Neuroophthalmology Service and Ocular Electrophysiology laboratory, Department of Ophthalmology, Scientific Institute, Auxologico Capitanio Hospital, Milan, Italy.
  • Devoto M; Unit of Genomics for the Diagnosis of Human Pathologies and Laboratory of Clinical and Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Pisciotta C; Division of Genetics, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Pareyson D; CNR-IRGB, Cagliari, Italy.
  • Kennerson M; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Previtali SC; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Zuchner S; Northcott Neuroscience Laboratory, ANZAC Research Institute Sydney Local Health District and Faculty of Health and Medicine, University of Sydney, Sydney, Australia.
  • Scherer SS; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Manganelli F; Department of Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Bähler M; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.
  • Bolino A; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Eur J Neurol ; 30(2): 511-526, 2023 02.
Article em En | MEDLINE | ID: mdl-36260368
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Miosinas Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Miosinas Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália