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NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern, Maureen S; Stumpel, Constance; Stong, Nicholas; Brunner, Han G; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P W; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P A; Kukolich, Mary K; Telegrafi, Aida; Lehman, Anna; Lopez-Rangel, Elena; Houcinat, Nada; Barth, Magalie; den Hollander, Nicolette; Hoffer, Mariette J V; Weckhuysen, Sarah; Roovers, Jolien; Djemie, Tania; Barca, Diana; Ceulemans, Berten; Craiu, Dana; Lemke, Johannes R; Korff, Christian; Mefford, Heather C; Meyers, Candace T; Siegler, Zsuzsanna; Hiatt, Susan M; Cooper, Gregory M; Bebin, E Martina; Snijders Blok, Lot; Veenstra-Knol, Hermine E; Baugh, Evan H; Brilstra, Eva H; Volker-Touw, Catharina M L; van Binsbergen, Ellen; Revah-Politi, Anya; Pereira, Elaine; McBrian, Danielle; Pacault, Mathilde; Isidor, Bertrand; Le Caignec, Cedric; Gilbert-Dussardier, Brigitte; Bilan, Frederic; Heinzen, Erin L; Goldstein, David B; Stevens, Servi J C.
Afiliação
  • Mulhern MS; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Stong N; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Brunner HG; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Bier L; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Lippa N; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Riviello J; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Rouhl RPW; Department of Neurology, Columbia University Department of Neurology, New York, NY.
  • Kempers M; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Pfundt R; Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Maastricht, the Netherlands.
  • Stegmann APA; School for Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands.
  • Kukolich MK; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Telegrafi A; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Lehman A; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Lopez-Rangel E; GeneDx, Gaithersburg, MD.
  • Houcinat N; Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • den Hollander N; Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Hoffer MJV; University of Burgundy-Franche-Comté, UMR1231 GAD, INSERM, Dijon, France.
  • Weckhuysen S; Dijon Bourgogne University Hospital Center, Rare Diseases Reference Center "Developmental Anomalies and Informational Syndromes," Genetic Center, FHU-TRANSLAD, Dijon, France.
  • Roovers J; Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Djemie T; Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Barca D; Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.
  • Ceulemans B; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Craiu D; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Korff C; Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.
  • Mefford HC; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Meyers CT; Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.
  • Siegler Z; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Hiatt SM; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Cooper GM; Pediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania.
  • Bebin EM; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Snijders Blok L; Pediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania.
  • Veenstra-Knol HE; Institute for Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Baugh EH; Pediatric Neurology Unit, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.
  • Brilstra EH; Department of Pediatrics, University of Washington, Seattle, WA.
  • Volker-Touw CML; Department of Pediatrics, University of Washington, Seattle, WA.
  • van Binsbergen E; Bethesda Children's Hospital, Department of Neurology, Budapest, Hungary.
  • Revah-Politi A; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Pereira E; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • McBrian D; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL.
  • Pacault M; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Isidor B; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
  • Le Caignec C; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Gilbert-Dussardier B; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
  • Bilan F; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
  • Heinzen EL; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
  • Goldstein DB; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
  • Stevens SJC; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.
Ann Neurol ; 84(5): 788-795, 2018 11.
Article em En | MEDLINE | ID: mdl-30269351
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Transtornos do Neurodesenvolvimento / Proteínas do Tecido Nervoso Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos
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: Proteínas de Transporte / Transtornos do Neurodesenvolvimento / Proteínas do Tecido Nervoso Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos