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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
Dejanovic, Borislav; Djémié, Tania; Grünewald, Nora; Suls, Arvid; Kress, Vanessa; Hetsch, Florian; Craiu, Dana; Zemel, Matthew; Gormley, Padhraig; Lal, Dennis; Myers, Candace T; Mefford, Heather C; Palotie, Aarno; Helbig, Ingo; Meier, Jochen C; De Jonghe, Peter; Weckhuysen, Sarah; Schwarz, Guenter.
Afiliação
  • Dejanovic B; Department of Chemistry, Institute of Biochemistry University of Cologne, Cologne, Germany b.dejanovic@uni-koeln.de sarahweck@hotmail.com gschwarz@uni-koeln.de.
  • Djémié T; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium Laboratory of Neurogenetics, Institute Born-Bunge University of Antwerp, Antwerp, Belgium.
  • Grünewald N; Department of Chemistry, Institute of Biochemistry University of Cologne, Cologne, Germany.
  • Suls A; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium Laboratory of Neurogenetics, Institute Born-Bunge University of Antwerp, Antwerp, Belgium GENOMED, Center for Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Kress V; Department of Chemistry, Institute of Biochemistry University of Cologne, Cologne, Germany.
  • Hetsch F; Division Cell Physiology, Zoological Institute Technische Universität Braunschweig, Braunschweig, Germany.
  • Craiu D; Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania Department of Neurology, Pediatric Neurology, Psychiatry, Child and Adolescent Psychiatry, and Neurosurgery, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
  • Zemel M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Gormley P; Wellcome Trust Sanger Institute Wellcome Trust Genome Campus, Hinxton, UK Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) University of Cologne, Cologne, Germany Psychia
  • Lal D; Cologne Center for Genomics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) University of Cologne, Cologne, Germany Department of Neuropediatrics, University Medical Faculty Giessen and Marburg, Giessen, Germany.
  • Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Palotie A; Wellcome Trust Sanger Institute Wellcome Trust Genome Campus, Hinxton, UK Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA Institute for Molecular Medicine Finland (FIMM), University of Helsinki,
  • Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein Christian Albrechts University, Kiel, Germany Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Meier JC; Division Cell Physiology, Zoological Institute Technische Universität Braunschweig, Braunschweig, Germany.
  • De Jonghe P; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium Laboratory of Neurogenetics, Institute Born-Bunge University of Antwerp, Antwerp, Belgium Division of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Weckhuysen S; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium Laboratory of Neurogenetics, Institute Born-Bunge University of Antwerp, Antwerp, Belgium Inserm U 1127 CNRS UMR 7225 Sorbonne Universités UPMC Univ Paris 06 UMR S 1127 Institut du Cerveau et de la Moelle épinière, ICM, Par
  • Schwarz G; Department of Chemistry, Institute of Biochemistry University of Cologne, Cologne, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) University of Cologne, Cologne
EMBO Mol Med ; 7(12): 1580-94, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26613940
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Mutação de Sentido Incorreto / Epilepsia / Proteínas de Membrana Limite: Humans Idioma: En Revista: EMBO Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2015 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Mutação de Sentido Incorreto / Epilepsia / Proteínas de Membrana Limite: Humans Idioma: En Revista: EMBO Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2015 Tipo de documento: Article País de publicação: Reino Unido