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Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Vaisfeld, Alessandro; Bruno, Giorgia; Petracca, Martina; Bentivoglio, Anna Rita; Servidei, Serenella; Vita, Maria Gabriella; Bove, Francesco; Straccia, Giulia; Dato, Clemente; Di Iorio, Giuseppe; Sampaolo, Simone; Peluso, Silvio; De Rosa, Anna; De Michele, Giuseppe; Barghigiani, Melissa; Galatolo, Daniele; Tessa, Alessandra; Santorelli, Filippo; Chiurazzi, Pietro; Melone, Mariarosa Anna Beatrice.
Afiliación
  • Vaisfeld A; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
  • Bruno G; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Petracca M; Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC di Neurologia, 00168 Roma, Italy.
  • Bentivoglio AR; Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC di Neurologia, 00168 Roma, Italy.
  • Servidei S; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
  • Vita MG; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
  • Bove F; Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC di Neurofisiopatologia, 00168 Rome, Italy.
  • Straccia G; Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC di Neurologia, 00168 Roma, Italy.
  • Dato C; Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC di Neurologia, 00168 Roma, Italy.
  • Di Iorio G; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
  • Sampaolo S; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Peluso S; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • De Rosa A; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • De Michele G; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Barghigiani M; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy.
  • Galatolo D; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy.
  • Tessa A; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy.
  • Santorelli F; Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
  • Chiurazzi P; Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
  • Melone MAB; Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Genes (Basel) ; 12(3)2021 02 26.
Article en En | MEDLINE | ID: mdl-33652783

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Músculo Esquelético / Proteínas de Transporte Vesicular / Mutación Tipo de estudio: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Músculo Esquelético / Proteínas de Transporte Vesicular / Mutación Tipo de estudio: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia