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ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.
Straccia, Giulia; Reale, Chiara; Castellani, Massimo; Colangelo, Isabel; Orunesu, Eva; Meoni, Sara; Moro, Elena; Krack, Paul; Prokisch, Holger; Zech, Michael; Romito, Luigi Michele; Garavaglia, Barbara.
Afiliação
  • Straccia G; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Neurology and Stroke Unit, C.T.O. Hospital, A.O.R.N. "Ospedali dei Colli", Naples, Italy.
  • Reale C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Castellani M; Nuclear Medicine Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • Colangelo I; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Orunesu E; Nuclear Medicine Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • Meoni S; Movement Disorders Unit, Division of Neurology, CHU Grenoble Alpes, Grenoble, France.
  • Moro E; Movement Disorders Unit, Division of Neurology, CHU Grenoble Alpes, Grenoble, France.
  • Krack P; Department of Neurology, Bern University Hospital and University of Bern, Bern, Switzerland.
  • Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.
  • Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.
  • Romito LM; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: luigi.romito@istituto-besta.it.
  • Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Parkinsonism Relat Disord ; 104: 3-6, 2022 11.
Article em En | MEDLINE | ID: mdl-36183459
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Actinas / Transtornos Parkinsonianos / Estimulação Encefálica Profunda / Distonia / Surdocegueira / Deficiência Intelectual Limite: Female / Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Actinas / Transtornos Parkinsonianos / Estimulação Encefálica Profunda / Distonia / Surdocegueira / Deficiência Intelectual Limite: Female / Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália