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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies, Katia; de Kovel, Carolien G F; Weckhuysen, Sarah; Asselbergh, Bob; Geuens, Thomas; Deconinck, Tine; Azmi, Abdelkrim; May, Patrick; Brilstra, Eva; Becker, Felicitas; Barisic, Nina; Craiu, Dana; Braun, Kees P J; Lal, Dennis; Thiele, Holger; Schubert, Julian; Weber, Yvonne; van 't Slot, Ruben; Nürnberg, Peter; Balling, Rudi; Timmerman, Vincent; Lerche, Holger; Maudsley, Stuart; Helbig, Ingo; Suls, Arvid; Koeleman, Bobby P C; De Jonghe, Peter.
Afiliação
  • Hardies K; 1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • de Kovel CG; 3 Departments of Medical Genetics and Child Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Weckhuysen S; 1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium 4 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau e
  • Asselbergh B; 5 VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Geuens T; 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium 6 Peripheral Neuropathy Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Deconinck T; 1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Azmi A; 7 Translational Neurobiology Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • May P; 8 Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Luxembourg 9 Institute for Systems Biology, Seattle, USA.
  • Brilstra E; 3 Departments of Medical Genetics and Child Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Becker F; 10 Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Eberhard-Karls University, Tübingen, Germany.
  • Barisic N; 11 Division for Child Neurology, Department of Pediatrics, Clinical Medical Centre Zagreb, University of Zagreb Medical School, Zagreb, Croatia.
  • Craiu D; 12 Pediatric Neurology Clinic Al Obregia Hospital, Bucharest, Romania 13 Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
  • Braun KP; 3 Departments of Medical Genetics and Child Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Lal D; 14 Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Thiele H; 14 Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Schubert J; 10 Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Eberhard-Karls University, Tübingen, Germany.
  • Weber Y; 10 Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Eberhard-Karls University, Tübingen, Germany.
  • van 't Slot R; 3 Departments of Medical Genetics and Child Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Nürnberg P; 14 Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany 15 Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany 16 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germ
  • Balling R; 8 Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Luxembourg.
  • Timmerman V; 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium 6 Peripheral Neuropathy Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Lerche H; 10 Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Eberhard-Karls University, Tübingen, Germany.
  • Maudsley S; 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium 7 Translational Neurobiology Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Helbig I; 17 Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany 18 Division of Neurology, The Children's Hospital of Philadelphia, Philadephia, USA.
  • Suls A; 1 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Koeleman BP; 3 Departments of Medical Genetics and Child Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.
Brain ; 138(Pt 11): 3238-50, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26384929
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Ácido Cítrico / Simportadores / Epilepsia / Anodontia Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Ácido Cítrico / Simportadores / Epilepsia / Anodontia Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2015 Tipo de documento: Article