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A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
Lopergolo, Diego; Berti, Gianna; Mari, Francesca; Bertini, Enrico; Rufa, Alessandra; Battisti, Carla; Sicurelli, Francesco; Renieri, Alessandra; Federico, Antonio; Sandhoff, Konrad; Malandrini, Alessandro.
Afiliación
  • Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Berti G; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.
  • Mari F; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Bertini E; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.
  • Rufa A; Medical Genetics, University of Siena, Siena, Italy.
  • Battisti C; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Sicurelli F; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Renieri A; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Federico A; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.
  • Sandhoff K; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Malandrini A; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.
Neurol Sci ; 43(4): 2849-2852, 2022 Apr.
Article en En | MEDLINE | ID: mdl-35066644

Texto completo: 1 Colección: 01-internacional Asunto principal: Paraplejía Espástica Hereditaria / Gangliosidosis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Animals / Child / Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Asunto principal: Paraplejía Espástica Hereditaria / Gangliosidosis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Animals / Child / Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Italia