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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Legati, Andrea; Giovannini, Donatella; Nicolas, Gaël; López-Sánchez, Uriel; Quintáns, Beatriz; Oliveira, João R M; Sears, Renee L; Ramos, Eliana Marisa; Spiteri, Elizabeth; Sobrido, María-Jesús; Carracedo, Ángel; Castro-Fernández, Cristina; Cubizolle, Stéphanie; Fogel, Brent L; Goizet, Cyril; Jen, Joanna C; Kirdlarp, Suppachok; Lang, Anthony E; Miedzybrodzka, Zosia; Mitarnun, Witoon; Paucar, Martin; Paulson, Henry; Pariente, Jérémie; Richard, Anne-Claire; Salins, Naomi S; Simpson, Sheila A; Striano, Pasquale; Svenningsson, Per; Tison, François; Unni, Vivek K; Vanakker, Olivier; Wessels, Marja W; Wetchaphanphesat, Suppachok; Yang, Michele; Boller, Francois; Campion, Dominique; Hannequin, Didier; Sitbon, Marc; Geschwind, Daniel H; Battini, Jean-Luc; Coppola, Giovanni.
Afiliação
  • Legati A; Department of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
  • Giovannini D; 1] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Montpellier, France. [2] Université de Montpellier, Montpellier, France. [3] Laboratory of Excellence GR-Ex, Paris, France. [4] Laboratory of Excellence EpiGenMed, Montpellier, France.
  • Nicolas G; 1] INSERM U1079, Institute for Research and Innovation in Biomedicine (IRIB), University of Rouen, Rouen, France. [2] Centre National de Référence pour les Malades Alzheimer Jeunes (CNR-MAJ), Rouen University Hospital, Rouen, France. [3] Department of Genetics, Rouen University Hospital, Rouen, Fran
  • López-Sánchez U; 1] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Montpellier, France. [2] Université de Montpellier, Montpellier, France. [3] Laboratory of Excellence GR-Ex, Paris, France. [4] Laboratory of Excellence EpiGenMed, Montpellier, France.
  • Quintáns B; 1] Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Sanitaria (IDIS, Hospital Clínico Universitario), Santiago de Compostela, Spain. [2] Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Uni
  • Oliveira JR; Keizo Asami Laboratory, Federal University of Pernambuco, Recife, Brazil.
  • Sears RL; Department of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
  • Ramos EM; Department of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
  • Spiteri E; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
  • Sobrido MJ; 1] Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Sanitaria (IDIS, Hospital Clínico Universitario), Santiago de Compostela, Spain. [2] Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Uni
  • Carracedo Á; 1] Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Sanitaria (IDIS, Hospital Clínico Universitario), Santiago de Compostela, Spain. [2] Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Uni
  • Castro-Fernández C; 1] Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Sanitaria (IDIS, Hospital Clínico Universitario), Santiago de Compostela, Spain. [2] Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Uni
  • Cubizolle S; Neurology and Institute for Neurodegenerative Diseases, Bordeaux University Hospital and Bordeaux University, Bordeaux, France.
  • Fogel BL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
  • Goizet C; Service de Génétique Médicale, Bordeaux Hospital University Center, Bordeaux, France.
  • Jen JC; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
  • Kirdlarp S; Division of Medicine, Buriram Hospital, Buriram, Thailand.
  • Lang AE; 1] Morton and Gloria Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada. [2] Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada.
  • Miedzybrodzka Z; Medical Genetics Group, School of Medicine and Dentistry, University of Aberdeen, Aberdeen, UK.
  • Mitarnun W; Division of Medicine, Buriram Hospital, Buriram, Thailand.
  • Paucar M; 1] Translational Neuropharmacology, Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden. [2] Department of Neurology, Karolinska University Hospital Huddinge, Stockholm, Sweden.
  • Paulson H; Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
  • Pariente J; 1] INSERM, Imagerie Cérébrale et Handicaps Neurologiques, UMR 825, Pole Neurosciences, Centre Hospitalier Universitaire (CHU) Purpan, Toulouse, France. [2] CHU de Toulouse, Université de Toulouse, Toulouse, France.
  • Richard AC; 1] INSERM U1079, Institute for Research and Innovation in Biomedicine (IRIB), University of Rouen, Rouen, France. [2] Centre National de Référence pour les Malades Alzheimer Jeunes (CNR-MAJ), Rouen University Hospital, Rouen, France.
  • Salins NS; Barrow Neurological Institute, Phoenix, Arizona, USA.
  • Simpson SA; Medical Genetics Group, School of Medicine and Dentistry, University of Aberdeen, Aberdeen, UK.
  • Striano P; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa 'G. Gaslini' Institute, Genoa, Italy.
  • Svenningsson P; 1] Translational Neuropharmacology, Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden. [2] Department of Neurology, Karolinska University Hospital Huddinge, Stockholm, Sweden.
  • Tison F; Neurology and Institute for Neurodegenerative Diseases, Bordeaux University Hospital and Bordeaux University, Bordeaux, France.
  • Unni VK; Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA.
  • Vanakker O; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Wessels MW; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Wetchaphanphesat S; Division of Medicine, Buriram Hospital, Buriram, Thailand.
  • Yang M; Department of Pediatrics, Children's Hospital Colorado and University of Colorado Denver, Aurora, Colorado, USA.
  • Boller F; Department of Neurology, George Washington University Medical School, Washington, DC, USA.
  • Campion D; 1] INSERM U1079, Institute for Research and Innovation in Biomedicine (IRIB), University of Rouen, Rouen, France. [2] Centre National de Référence pour les Malades Alzheimer Jeunes (CNR-MAJ), Rouen University Hospital, Rouen, France. [3] Department of Research, Rouvray Psychiatric Hospital, Sottevil
  • Hannequin D; 1] INSERM U1079, Institute for Research and Innovation in Biomedicine (IRIB), University of Rouen, Rouen, France. [2] Centre National de Référence pour les Malades Alzheimer Jeunes (CNR-MAJ), Rouen University Hospital, Rouen, France. [3] Department of Genetics, Rouen University Hospital, Rouen, Fran
  • Sitbon M; 1] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Montpellier, France. [2] Université de Montpellier, Montpellier, France. [3] Laboratory of Excellence GR-Ex, Paris, France. [4] Laboratory of Excellence EpiGenMed, Montpellier, France.
  • Geschwind DH; 1] Department of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA. [2] Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
  • Battini JL; 1] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Montpellier, France. [2] Université de Montpellier, Montpellier, France. [3] Laboratory of Excellence GR-Ex, Paris, France. [4] Laboratory of Excellence EpiGenMed, Montpellier, France.
  • Coppola G; 1] Department of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA. [2] Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Nat Genet ; 47(6): 579-81, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25938945
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores Virais / Calcinose / Encefalopatias Metabólicas Congênitas / Receptores Acoplados a Proteínas G Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores Virais / Calcinose / Encefalopatias Metabólicas Congênitas / Receptores Acoplados a Proteínas G Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article