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Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation.
Martino, D; Melzi, V; Franco, G; Kandasamy, N; Monfrini, E; Di Fonzo, A.
Afiliação
  • Martino D; Department of Neurology, King's College Hospital NHS Foundation Trust, London, UK; Queen Elizabeth Hospital Woolwich, Lewisham & Greenwich NHS Trust, UK.
  • Melzi V; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Franco G; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Kandasamy N; Department of Neuroradiology, King's College Hospital NHS Foundation Trust, London, UK.
  • Monfrini E; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Di Fonzo A; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address: alessio.difonzo@policlinico.mi.it.
Parkinsonism Relat Disord ; 21(11): 1378-80, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26421390
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: ATPases Translocadoras de Prótons / Transtornos Parkinsonianos / Distonia Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: ATPases Translocadoras de Prótons / Transtornos Parkinsonianos / Distonia Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article