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A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.
Duncan, Ian D; Bugiani, Marianna; Radcliff, Abigail B; Moran, John J; Lopez-Anido, Camila; Duong, Phu; August, Benjamin K; Wolf, Nicole I; van der Knaap, Marjo S; Svaren, John.
Afiliación
  • Duncan ID; Department of Medical Sciences, University of Wisconsin-Madison, Madison, WI.
  • Bugiani M; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands.
  • Radcliff AB; Center for Childhood White Matter Disorders, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, the Netherlands.
  • Moran JJ; Department of Medical Sciences, University of Wisconsin-Madison, Madison, WI.
  • Lopez-Anido C; Waisman Center, University of Wisconsin-Madison, Madison, WI.
  • Duong P; Waisman Center, University of Wisconsin-Madison, Madison, WI.
  • August BK; Waisman Center, University of Wisconsin-Madison, Madison, WI.
  • Wolf NI; Electron Microscope Facility, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI.
  • van der Knaap MS; Center for Childhood White Matter Disorders, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, the Netherlands.
  • Svaren J; Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.
Ann Neurol ; 81(5): 690-702, 2017 May.
Article en En | MEDLINE | ID: mdl-28393430
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Nervio Óptico / Médula Espinal / Tubulina (Proteína) / Enfermedades Desmielinizantes / Modelos Animales de Enfermedad / Sustancia Blanca / Microtúbulos Tipo de estudio: Prognostic_studies Límite: Animals / Child, preschool / Humans Idioma: En Revista: Ann Neurol Año: 2017 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Nervio Óptico / Médula Espinal / Tubulina (Proteína) / Enfermedades Desmielinizantes / Modelos Animales de Enfermedad / Sustancia Blanca / Microtúbulos Tipo de estudio: Prognostic_studies Límite: Animals / Child, preschool / Humans Idioma: En Revista: Ann Neurol Año: 2017 Tipo del documento: Article