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Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".
Grandis, Marina; Geroldi, Alessandro; Gulli, Rossella; Manganelli, Fiore; Gotta, Fabio; Lamp, Merit; Origone, Paola; Trevisan, Lucia; Gemelli, Chiara; Fabbri, Sabrina; Schenone, Angelo; Tozza, Stefano; Santoro, Lucio; Bellone, Emilia; Mandich, Paola.
Afiliação
  • Grandis M; Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Viale Benedetto XV, Largo P. Daneo 3, 16132, Genoa, Italy.
  • Geroldi A; Ospedale Policlinico San Martino IRCCS-Neurological Unit, Largo R. Benzi 10, 16132, Genoa, Italy.
  • Gulli R; Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Viale Benedetto XV, Largo P. Daneo 3, 16132, Genoa, Italy. ageroldi@hotmail.com.
  • Manganelli F; Ospedale Policlinico San Martino IRCCS-Medical Genetic Unit, Largo R. Benzi 10, 16132, Genoa, Italy.
  • Gotta F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, Italy.
  • Lamp M; Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Viale Benedetto XV, Largo P. Daneo 3, 16132, Genoa, Italy.
  • Origone P; Ospedale Policlinico San Martino IRCCS-Medical Genetic Unit, Largo R. Benzi 10, 16132, Genoa, Italy.
  • Trevisan L; Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Viale Benedetto XV, Largo P. Daneo 3, 16132, Genoa, Italy.
  • Gemelli C; Ospedale Policlinico San Martino IRCCS-Medical Genetic Unit, Largo R. Benzi 10, 16132, Genoa, Italy.
  • Fabbri S; Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Viale Benedetto XV, Largo P. Daneo 3, 16132, Genoa, Italy.
  • Schenone A; Ospedale Policlinico San Martino IRCCS-Medical Genetic Unit, Largo R. Benzi 10, 16132, Genoa, Italy.
  • Tozza S; Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Viale Benedetto XV, Largo P. Daneo 3, 16132, Genoa, Italy.
  • Santoro L; Ospedale Policlinico San Martino IRCCS-Medical Genetic Unit, Largo R. Benzi 10, 16132, Genoa, Italy.
  • Bellone E; Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Viale Benedetto XV, Largo P. Daneo 3, 16132, Genoa, Italy.
  • Mandich P; Ospedale Policlinico San Martino IRCCS-Neurological Unit, Largo R. Benzi 10, 16132, Genoa, Italy.
Orphanet J Rare Dis ; 13(1): 177, 2018 10 04.
Article em En | MEDLINE | ID: mdl-30286783

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Neuropatias Amiloides Familiares Limite: Female / Humans / Male / Middle aged Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Neuropatias Amiloides Familiares Limite: Female / Humans / Male / Middle aged Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália