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PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.
Zanni, G; D'Abrusco, F; Nicita, F; Cascioli, S; Tosi, M; Corrente, F; Serpieri, V; Ciccone, R; Motta, M; Vasco, G; Carsetti, R; Valente, E M; Bertini, E.
  • Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ginevra.zanni@opbg.net.
  • D'Abrusco F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cascioli S; Unit of Diagnostic Immunology, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Tosi M; Child Neurology and Psychiatry Unit, University Hospital of Rome Tor Vergata, Rome, Italy.
  • Corrente F; Unit of Diagnostic Immunology, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Serpieri V; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Ciccone R; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
  • Motta M; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Vasco G; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Carsetti R; Unit of Neurorehabilitation, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Valente EM; Unit of Diagnostic Immunology, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bertini E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Cerebellum ; 21(4): 525-530, 2022 Aug.
Article en En | MEDLINE | ID: mdl-34089469

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Glicosilfosfatidilinositoles Tipo de estudio: Risk_factors_studies Límite: Humans / Male Idioma: En Año: 2022 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Glicosilfosfatidilinositoles Tipo de estudio: Risk_factors_studies Límite: Humans / Male Idioma: En Año: 2022 Tipo del documento: Article