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Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.
Kobow, Katja; Jabari, Samir; Pieper, Tom; Kudernatsch, Manfred; Polster, Tilman; Woermann, Friedrich G; Kalbhenn, Thilo; Hamer, Hajo; Rössler, Karl; Mühlebner, Angelika; Spliet, Wim G M; Feucht, Martha; Hou, Yanghao; Stichel, Damian; Korshunov, Andrey; Sahm, Felix; Coras, Roland; Blümcke, Ingmar; von Deimling, Andreas.
  • Kobow K; Department of Neuropathology, Institute of Neuropathology, Affiliated Partner of the ERN EpiCARE, Universitätsklinikum Erlangen, Friedrich-Alexander-University of Erlangen-Nürnberg (FAU), Schwabachanlage 6, 91054, Erlangen, Germany. katja.kobow@uk-erlangen.de.
  • Jabari S; Department of Neuropathology, Institute of Neuropathology, Affiliated Partner of the ERN EpiCARE, Universitätsklinikum Erlangen, Friedrich-Alexander-University of Erlangen-Nürnberg (FAU), Schwabachanlage 6, 91054, Erlangen, Germany.
  • Pieper T; Department of Neurology, Schön Klinik Vogtareuth, Vogtareuth, Germany.
  • Kudernatsch M; Department of Neurosurgery and Epilepsy Surgery, Schön Klinik Vogtareuth, Vogtareuth, Germany.
  • Polster T; Research Institute "Rehabilitation, Transition, Palliation", PMU Salzburg, Salzburg, Austria.
  • Woermann FG; Epilepsy Center Bethel, Krankenhaus Mara, Bielefeld, Germany.
  • Kalbhenn T; Epilepsy Center Bethel, Krankenhaus Mara, Bielefeld, Germany.
  • Hamer H; Department of Neurosurgery, Evangelisches Klinikum Bethel, Bielefeld, Germany.
  • Rössler K; Department of Neurology, Epilepsy Center, Universitätsklinikum Erlangen, Friedrich-Alexander-University of Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Mühlebner A; Department of Neurosurgery, Universitätsklinikum Erlangen, Friedrich-Alexander-University of Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Spliet WGM; Department of Neurosurgery, Medical University of Vienna, Vienna, Austria.
  • Feucht M; Department of (Neuro)Pathology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Hou Y; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Stichel D; Department of Pediatrics and Adolescent Medicine, Affiliated Partner of the ERN EpiCARE, Medical University Vienna, Vienna, Austria.
  • Korshunov A; Department of Neuropathology, Universitätsklinikum Heidelberg, and, CCU Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Sahm F; Department of Neuropathology, Universitätsklinikum Heidelberg, and, CCU Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Coras R; Department of Neuropathology, Universitätsklinikum Heidelberg, and, CCU Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Blümcke I; Department of Neuropathology, Universitätsklinikum Heidelberg, and, CCU Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • von Deimling A; Department of Neuropathology, Institute of Neuropathology, Affiliated Partner of the ERN EpiCARE, Universitätsklinikum Erlangen, Friedrich-Alexander-University of Erlangen-Nürnberg (FAU), Schwabachanlage 6, 91054, Erlangen, Germany.
Acta Neuropathol ; 140(6): 881-891, 2020 12.
Article en En | MEDLINE | ID: mdl-32979071
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encéfalo / Cromosomas / Malformaciones del Desarrollo Cortical / Polimicrogiria / Epilepsia Refractaria Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encéfalo / Cromosomas / Malformaciones del Desarrollo Cortical / Polimicrogiria / Epilepsia Refractaria Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article