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The novel I213S mutation in PSEN1 gene is located in a hotspot codon associated with familial early-onset Alzheimer's disease.
Catania, Marcella; Marti, Alessandro; Rossi, Giacomina; Fioretti, Anna; Boiocchi, Chiara; Ricci, Martina; Gasparini, Federico; Beltrami, Daniela; Crepaldi, Valeria; Redaelli, Veronica; Giaccone, Giorgio; Di Fede, Giuseppe.
Affiliation
  • Catania M; Neurology 5 / Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
  • Marti A; Clinical Neuropsychology, Cognitive Disorders and Adult Dyslexia Unit, Neurology, Department of Neuro-Motor Diseases, AUSL IRCCS - Ospedale Santa Maria Nuova di Reggio Emilia, Via Amendola 2, 42122 Reggio Emilia, Italy.
  • Rossi G; Neurology 5 / Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
  • Fioretti A; Neurology 5 / Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
  • Boiocchi C; Neurology 5 / Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
  • Ricci M; Neurology 5 / Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
  • Gasparini F; Clinical Neuropsychology, Cognitive Disorders and Adult Dyslexia Unit, Neurology, Department of Neuro-Motor Diseases, AUSL IRCCS - Ospedale Santa Maria Nuova di Reggio Emilia, Via Amendola 2, 42122 Reggio Emilia, Italy.
  • Beltrami D; Clinical Neuropsychology, Cognitive Disorders and Adult Dyslexia Unit, Neurology, Department of Neuro-Motor Diseases, AUSL IRCCS - Ospedale Santa Maria Nuova di Reggio Emilia, Via Amendola 2, 42122 Reggio Emilia, Italy.
  • Crepaldi V; Neurology 5 / Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
  • Redaelli V; Neurology 5 / Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
  • Giaccone G; Neurology 5 / Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
  • Di Fede G; Neurology 5 / Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy. Electronic address: giuseppe.difede@istituto-besta.it.
Neurobiol Aging ; 112: 191-196, 2022 04.
Article in En | MEDLINE | ID: mdl-35231845

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alzheimer Disease Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Neurobiol Aging Year: 2022 Type: Article Affiliation country: Italy

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alzheimer Disease Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Neurobiol Aging Year: 2022 Type: Article Affiliation country: Italy