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Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.
Al-Saady, Murtadha L; Kaiser, Charlotte S; Wakasuqui, Felipe; Korenke, G Christoph; Waisfisz, Quinten; Polstra, Abeltje; Pouwels, Petra J W; Bugiani, Marianna; van der Knaap, Marjo S; Lunsing, Roelineke J; Liebau, Eva; Wolf, Nicole I.
Afiliación
  • Al-Saady ML; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, and Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.
  • Kaiser CS; Department of Molecular Physiology, Westfälische Wilhelms-University Münster, Münster, Germany.
  • Wakasuqui F; Department of Molecular Physiology, Westfälische Wilhelms-University Münster, Münster, Germany.
  • Korenke GC; Department of Neuropediatrics, Klinikum Oldenburg, Oldenburg, Germany.
  • Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, VU University Medical Center Amsterdam, The Netherlands.
  • Polstra A; Department of Clinical Genetics, Amsterdam UMC, VU University Medical Center Amsterdam, The Netherlands.
  • Pouwels PJW; Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands.
  • Bugiani M; Department of Pathology, Amsterdam Leukodystrophy Center, VU University Medical Center and Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, and Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.
  • Lunsing RJ; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Liebau E; Department of Molecular Physiology, Westfälische Wilhelms-University Münster, Münster, Germany.
  • Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, and Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.
Neuropediatrics ; 52(6): 489-494, 2021 12.
Article en En | MEDLINE | ID: mdl-33853163
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Periférico / Epilepsia Límite: Child, preschool / Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Periférico / Epilepsia Límite: Child, preschool / Humans Idioma: En Año: 2021 Tipo del documento: Article