Your browser doesn't support javascript.
loading
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos, Eliana Marisa; Carecchio, Miryam; Lemos, Roberta; Ferreira, Joana; Legati, Andrea; Sears, Renee Louise; Hsu, Sandy Chan; Panteghini, Celeste; Magistrelli, Luca; Salsano, Ettore; Esposito, Silvia; Taroni, Franco; Richard, Anne-Claire; Tranchant, Christine; Anheim, Mathieu; Ayrignac, Xavier; Goizet, Cyril; Vidailhet, Marie; Maltete, David; Wallon, David; Frebourg, Thierry; Pimentel, Lylyan; Geschwind, Daniel H; Vanakker, Olivier; Galasko, Douglas; Fogel, Brent L; Innes, A Micheil; Ross, Alison; Dobyns, William B; Alcantara, Diana; O'Driscoll, Mark; Hannequin, Didier; Campion, Dominique; Oliveira, João R; Garavaglia, Barbara; Coppola, Giovanni; Nicolas, Gaël.
Afiliação
  • Ramos EM; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Carecchio M; Molecular Neurogenetics Unit, Movement Disorders Section, IRCCS Foundation Carlo Besta Neurological Institute, Via L. Temolo n. 4, Milan, 20116, Italy.
  • Lemos R; Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, Milan, 20131, Italy.
  • Ferreira J; PhD Programme in Translational and Molecular Medicine, Milan Bicocca University, Monza, Italy.
  • Legati A; Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil.
  • Sears RL; Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil.
  • Hsu SC; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Panteghini C; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Magistrelli L; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Salsano E; Molecular Neurogenetics Unit, Movement Disorders Section, IRCCS Foundation Carlo Besta Neurological Institute, Via L. Temolo n. 4, Milan, 20116, Italy.
  • Esposito S; Department of Neurology, University of Eastern Piedmont, C.so Mazzini 18, Novara, 28100, Italy.
  • Taroni F; Department of Clinical Neurosciences, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, Milan, 20131, Italy.
  • Richard AC; Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, Milan, 20131, Italy.
  • Tranchant C; IRCCS Foundation Carlo Besta Neurological Institute, Via Amadeo 42, Milan, 20133, Italy.
  • Anheim M; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Ayrignac X; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
  • Goizet C; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Strasbourg, Illkirch, France.
  • Vidailhet M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
  • Maltete D; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Strasbourg, Illkirch, France.
  • Wallon D; Department of Neurology, Montpellier University Hospital, Montpellier, France.
  • Frebourg T; CHU Bordeaux, Service de Génétique Médicale, 33000, Bordeaux, France.
  • Pimentel L; INSERM U1211, Univ Bordeaux, Laboratoire Maladies Rares, Génétique et Métabolisme, 33000, Bordeaux, France.
  • Geschwind DH; Département de neurologie, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, ICM, F-75013, Sorbonne Universites, Paris, France.
  • Vanakker O; Normandie Univ, UNIROUEN, Inserm U1073, Rouen University Hospital, Department of Neurology, F 76000, Rouen, France.
  • Galasko D; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Neurology and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Fogel BL; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Innes AM; Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil.
  • Ross A; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Dobyns WB; Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium.
  • Alcantara D; Veterans Affairs Medical Center, San Diego and University of California, San Diego, USA.
  • O'Driscoll M; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Hannequin D; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.
  • Campion D; Department of Clinical Genetics, Ashgrove House, Foresterhill, Aberdeen, UK.
  • Oliveira JR; Genome Damage & Stability Centre, University of Sussex, Brighton, UK.
  • Garavaglia B; Genome Damage & Stability Centre, University of Sussex, Brighton, UK.
  • Coppola G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Neurology, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
  • Nicolas G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
Eur J Hum Genet ; 26(10): 1462-1477, 2018 10.
Article em En | MEDLINE | ID: mdl-29955172
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encefalopatias / Calcinose / Disfunção Cognitiva Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encefalopatias / Calcinose / Disfunção Cognitiva Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido