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Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca, Alessia; Mencacci, Niccolò E; Invernizzi, Federica; Zech, Michael; Keller Sarmiento, Ignacio J; Legati, Andrea; Frascarelli, Chiara; Bustos, Bernabe I; Romito, Luigi M; Krainc, Dimitri; Winkelmann, Juliane; Carecchio, Miryam; Nardocci, Nardo; Zorzi, Giovanna; Prokisch, Holger; Lubbe, Steven J; Garavaglia, Barbara; Ghezzi, Daniele.
Afiliación
  • Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Mencacci NE; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago 60611, IL, USA.
  • Invernizzi F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
  • Keller Sarmiento IJ; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.
  • Legati A; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago 60611, IL, USA.
  • Frascarelli C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Bustos BI; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Romito LM; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago 60611, IL, USA.
  • Krainc D; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Winkelmann J; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago 60611, IL, USA.
  • Carecchio M; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
  • Nardocci N; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.
  • Zorzi G; Lehrstuhl für Neurogenetik, Technische Universität München, 81675 Munich, Germany.
  • Prokisch H; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany.
  • Lubbe SJ; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Garavaglia B; Department Neuroscience, University of Padua, 35128 Padua, Italy.
  • Ghezzi D; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Brain ; 146(7): 2730-2738, 2023 07 03.
Article en En | MEDLINE | ID: mdl-36860166
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos Distónicos / Distonía Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Brain Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos Distónicos / Distonía Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Brain Año: 2023 Tipo del documento: Article País de afiliación: Italia