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Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.
Vantaggiato, Chiara; Cantoni, Orazio; Guidarelli, Andrea; Romaniello, Romina; Citterio, Andrea; Arrigoni, Filippo; Doneda, Chiara; Castelli, Marianna; Airoldi, Giovanni; Bresolin, Nereo; Borgatti, Renato; Bassi, Maria Teresa.
Afiliación
  • Vantaggiato C; Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy.
  • Cantoni O; Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.
  • Guidarelli A; Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.
  • Romaniello R; Scientific Institute IRCCS E. Medea, Neuropsychiatry and Neurorehabilitation Unit, Bosisio Parini, Lecco, Italy.
  • Citterio A; Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy.
  • Arrigoni F; Scientific Institute IRCCS E.Medea, Neuroimaging Unit, Bosisio Parini, Lecco, Italy.
  • Doneda C; Radiology and Pediatric Neuroradiology, Buzzi Hospital, Milan, Italy.
  • Castelli M; Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy.
  • Airoldi G; Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy.
  • Bresolin N; Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy; Dino Ferrari Centre, IRCCS Ca' Granda, Ospedale Maggiore Policlinico Foundation, Department of Physiopathology and Transplantation, University of Milan, Italy.
  • Borgatti R; Scientific Institute IRCCS E. Medea, Neuropsychiatry and Neurorehabilitation Unit, Bosisio Parini, Lecco, Italy.
  • Bassi MT; Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy. Electronic address: mariateresa.bassi@bp.lnf.it.
Brain Dev ; 36(8): 682-9, 2014 Sep.
Article en En | MEDLINE | ID: mdl-24183476
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Enfermedades del Nervio Óptico / ARN Helicasas / Mutación Missense / Apraxia Ideomotora Tipo de estudio: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: Brain Dev Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Enfermedades del Nervio Óptico / ARN Helicasas / Mutación Missense / Apraxia Ideomotora Tipo de estudio: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: Brain Dev Año: 2014 Tipo del documento: Article