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A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Veneri, Francesca A; Prada, Valeria; Mastrangelo, Rosa; Ferri, Cinzia; Nobbio, Lucilla; Passalacqua, Mario; Milanesi, Maria; Bianchi, Francesca; Del Carro, Ubaldo; Vallat, Jean-Michel; Duong, Phu; Svaren, John; Schenone, Angelo; Grandis, Marina; D'Antonio, Maurizio.
Affiliation
  • Veneri FA; Biology of Myelin Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
  • Prada V; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, IRCCS AOU San Martino-IST, 16132 Genova, Italy.
  • Mastrangelo R; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, IRCCS AOU San Martino-IST, 16132 Genova, Italy.
  • Ferri C; Biology of Myelin Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
  • Nobbio L; Biology of Myelin Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
  • Passalacqua M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, IRCCS AOU San Martino-IST, 16132 Genova, Italy.
  • Milanesi M; Department of Experimental Medicine, University of Genova, 16132 Genova, Italy.
  • Bianchi F; Experimental Oncology and Immunology, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
  • Del Carro U; Movement Disorders Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
  • Vallat JM; Movement Disorders Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
  • Duong P; Department and Laboratory of Neurology, National Reference Center for 'Rare Peripheral Neuropathies', University Hospital of Limoges (CHU Limoges), Dupuytren Hospital, 87000 Limoges, France.
  • Svaren J; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA.
  • Schenone A; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA.
  • Grandis M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, IRCCS AOU San Martino-IST, 16132 Genova, Italy.
  • D'Antonio M; Department of Neurology, IRCCS Ospedale Policlinico San Martino, 16132 Genova, Italy.
Hum Mol Genet ; 31(24): 4255-4274, 2022 12 16.
Article in En | MEDLINE | ID: mdl-35908287
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Full text: 1 Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Myelin P0 Protein Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy
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Full text: 1 Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Myelin P0 Protein Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy