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Exome-wide rare variant analysis in familial essential tremor.
Diez-Fairen, Monica; Houle, Gabrielle; Ortega-Cubero, Sara; Bandres-Ciga, Sara; Alvarez, Ignacio; Carcel, Maria; Ibañez, Laura; Fernandez, Maria Victoria; Budde, John P; Trotta, Jean-Rémi; Tonda, Raúl; Chong, Jessica X; Bamshad, Michael J; Nickerson, Deborah A; Aguilar, Miquel; Tartari, Juan P; Gironell, Alexandre; García-Martín, Elena; Agundez, Jose Ag; Alonso-Navarro, Hortensia; Jimenez-Jimenez, Felix Javier; Fernandez, Manel; Valldeoriola, Francesc; Marti, Maria Jose; Tolosa, Eduard; Coria, Francisco; Pastor, Maria A; Vilariño-Güell, Carles; Rajput, Alex; Dion, Patrick A; Cruchaga, Carlos; Rouleau, Guy A; Pastor, Pau.
Afiliação
  • Diez-Fairen M; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain.
  • Houle G; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
  • Ortega-Cubero S; Department of Neurology and Neurosurgery, Hospital Universitario de Burgos, Burgos, Spain.
  • Bandres-Ciga S; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Instituto de Investigación Biosanitaria de Granada (ibs. GRANADA), Granada, Spain.
  • Alvarez I; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain.
  • Carcel M; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain.
  • Ibañez L; NeuroGenomics and Informatics, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
  • Fernandez MV; NeuroGenomics and Informatics, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
  • Budde JP; NeuroGenomics and Informatics, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
  • Trotta JR; Centre Nacional d'Anàlisis Genòmic (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain & Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Tonda R; Centre Nacional d'Anàlisis Genòmic (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain & Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Seattle Children's Hospital, Seattle, WA, 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Aguilar M; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain.
  • Tartari JP; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain.
  • Gironell A; Movement Disorders Unit, Neurology Department, Hospital de Sant Pau and Sant Pau Biomedical Research Institute, Barcelona, 08026, Spain.
  • García-Martín E; University Institute of Molecular Pathology Biomarkers, UNEx. ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.
  • Agundez JA; University Institute of Molecular Pathology Biomarkers, UNEx. ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.
  • Alonso-Navarro H; Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Madrid, Spain.
  • Jimenez-Jimenez FJ; Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Madrid, Spain.
  • Fernandez M; María de Maeztu Unit of Excellence, Institute of Neurosciences, University of Barcelona, MDM-2017-0729, Ministry of Science, Innovation and Universities, Spain; Parkinson's Disease & Movement Disorders Unit, Department of Neurology, Hospital Clínic, IDIBAPS, Barcelona, Spain.
  • Valldeoriola F; Parkinson's Disease & Movement Disorders Unit, Department of Neurology, Hospital Clínic, IDIBAPS, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Clínic de Barcelona, Barcelona, Spain.
  • Marti MJ; Parkinson's Disease & Movement Disorders Unit, Department of Neurology, Hospital Clínic, IDIBAPS, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Clínic de Barcelona, Barcelona, Spain.
  • Tolosa E; Parkinson's Disease & Movement Disorders Unit, Department of Neurology, Hospital Clínic, IDIBAPS, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Clínic de Barcelona, Barcelona, Spain.
  • Coria F; Clinic for Nervous Disorders, Service of Neurology, Son Espases University Hospital, Palma de Mallorca, Spain.
  • Pastor MA; Department of Neurology, Clínica Universidad de Navarra, Pamplona, Spain.
  • Vilariño-Güell C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Rajput A; Saskatchewan Movement Disorders Program, University of Saskatchewan/Saskatchewan Health Authority, Saskatoon, Saskatchewan, Canada.
  • Dion PA; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, H3A 2B4, Quebec, Canada.
  • Cruchaga C; NeuroGenomics and Informatics, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
  • Rouleau GA; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, H3A 2B4, Quebec, Canada.
  • Pastor P; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain. Electronic address: pastorpau@gmail.com.
Parkinsonism Relat Disord ; 82: 109-116, 2021 01.
Article em En | MEDLINE | ID: mdl-33279834
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Tremor Essencial Tipo de estudo: Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Espanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Tremor Essencial Tipo de estudo: Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Espanha