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Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
Iorio, Andrea; De Lillo, Antonella; De Angelis, Flavio; Di Girolamo, Marco; Luigetti, Marco; Sabatelli, Mario; Pradotto, Luca; Mauro, Alessandro; Mazzeo, Anna; Stancanelli, Claudia; Perfetto, Federico; Frusconi, Sabrina; My, Filomena; Manfellotto, Dario; Fuciarelli, Maria; Polimanti, Renato.
Afiliação
  • Iorio A; Department of Biology, University of Rome Tor Vergata, Rome, Italy.
  • De Lillo A; Department of Biology, University of Rome Tor Vergata, Rome, Italy.
  • De Angelis F; Department of Biology, University of Rome Tor Vergata, Rome, Italy.
  • Di Girolamo M; Clinical Pathophysiology Center, AFaR Foundation - 'San Giovanni Calibita' Fatebenefratelli Hospital, Rome, Italy.
  • Luigetti M; Department of Geriatrics, Institute of Neurology, Catholic University of the Sacred Heart, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
  • Sabatelli M; Department of Neurosciences, Institute of Neurology, Catholic University of the Sacred Heart, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
  • Pradotto L; Department of Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
  • Mauro A; 'Centro Clinico NEMO', Rome, Italy.
  • Mazzeo A; Division of Neurology and Neurorehabilitation, San Giuseppe Hospital, IRCCS-Istituto Auxologico Italiano, Piancavallo (VB), Italy.
  • Stancanelli C; Division of Neurology and Neurorehabilitation, San Giuseppe Hospital, IRCCS-Istituto Auxologico Italiano, Piancavallo (VB), Italy.
  • Perfetto F; Department of Neuroscience, University of Turin, Turin, Italy.
  • Frusconi S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • My F; Unit of Neurology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Manfellotto D; Regional Amyloid Centre, Azienda Ospedaliero-Universitaria Careggi, Florence, Italy.
  • Fuciarelli M; Genetic Diagnostics Unit, Laboratory Department, Careggi University Hospital, Florence, Italy.
  • Polimanti R; Division of Neurology, 'Vito Fazzi Hospital', Lecce, Italy.
Eur J Hum Genet ; 25(9): 1055-1060, 2017 09.
Article em En | MEDLINE | ID: mdl-28635949

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Pré-Albumina / Amiloidose / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Pré-Albumina / Amiloidose / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália