المؤلفون: Silvennoinen, Katri^{Aff1, Aff2}, Gawel, Kinga^{Aff3, Aff4}, Tsortouktzidis, Despina^{Aff5, Aff6}, Pitsch, Julika^{Aff5, Aff6}, Alhusaini, Saud^{Aff7, Aff8}, van Loo, Karen M. J.^{Aff5, Aff9}, Picardo, Richard, Michalak, Zuzanna, Pagni, Susanna^{Aff1, Aff2}, Martins Custodio, Helena^{Aff1, Aff2}, Mills, James^{Aff1, Aff2}, Whelan, Christopher D.^{Aff7, Aff11}, de Zubicaray, Greig I., McMahon, Katie L., van der Ent, Wietske, Kirstein-Smardzewska, Karolina J., Tiraboschi, Ettore, Mudge, Jonathan M., Frankish, Adam, Thom, Maria, Wright, Margaret J., Thompson, Paul M., Schoch, Susanne^{Aff5, Aff6}, Becker, Albert J., Esguerra, Camila V., Sisodiya, Sanjay M.^{Aff1, Aff2, IDs00401022024290_cor26}

المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 144(1):107-127

المؤلفون: de los Santos, Miguel Rodríguez, Rivalan, Marion, David, Friederike S., Stumpf, Alexander, Pitsch, Julika, Tsortouktzidis, Despina, Velasquez, Laura Moreno, Voigt, Anne, Schilling, Karl, Mattei, Daniele, Long, Melissa, Vogt, Guido, Knaus, Alexej, Fischer-Zirnsak, Björn, Wittler, Lars, Timmermann, Bernd, Robinson, Peter N., Horn, Denise, Mundlos, Stefan, Kornak, Uwe, Becker, Albert J., Schmitz, Dietmar, Winter, York, Krawitz, Peter M.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Jan 01. 118(2), 1-11.

URL الوصول: https://www.jstor.org/stable/27005959

المؤلفون: Tsortouktzidis, Despina, Grundke, Kathleen, Till, Claudia^{Aff1, Aff3}, Korwitz-Reichelt, Anne, Sass, Jörn Oliver^{Aff1, Aff2, Aff3}

المصدر: Metabolic Brain Disease. 34(6):1629-1634

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المؤلفون: Tsortouktzidis, Despina, Tröscher, Anna R., Schulz, Herbert, Opitz, Thoralf, Schoch, Susanne, Becker, Albert J., van Loo, Karen M. J.

المصدر: Frontiers in Molecular Neuroscience; 1/6/2022, Vol. 14, p1-9, 9p

مصطلحات موضوعية: CALCIUM channels, GENE regulatory networks, ION channels, CRISPRS, EPILEPSY, CALCIUM ions, NEUROSCIENCES

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المؤلفون: Tsortouktzidis, Despina, Schulz, Herbert, Hamed, Motaz, Vatter, Hartmut, Surges, Rainer, Schoch, Susanne, Sander, Thomas, Becker, Albert J., Loo, Karen M. J.

المصدر: Epilepsia (Series 4); Jan2021, Vol. 62 Issue 1, pe29-e34, 6p

مصطلحات موضوعية: ALDEHYDE dehydrogenase, GENE expression, HIPPOCAMPUS (Brain), SUCCINATE dehydrogenase, TEMPORAL lobectomy, SINGLE nucleotide polymorphisms

المؤلفون: Oranys Marín, Brett, Carlos, Chiossone, Andrea, Cover, Mariana, Celeny Figuera, Hernández, Octavio, Moncho, Alessandra, Montilla, Luis Miguel, Morales, Jesús, Ribeiro, Carla, Royero, Pedro, Yessika Ruiz, Sánchez, Eugenia, Sous, Liliana, Tsortouktzidis, Despina

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67db1ad3b14874a8369429c994e2de9f

المؤلفون: Rodríguez de Los Santos M; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Berlin-Brandenburg School for Regenerative Therapies, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Rivalan M; Animal Outcome Core Facility of the NeuroCure Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Institute of Cognitive Neurobiology, Humboldt University, 10117 Berlin, Germany., David FS; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany.; Institute of Human Genetics, Faculty of Medicine, University Hospital Bonn, 53127 Bonn, Germany., Stumpf A; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Pitsch J; Section for Translational Epilepsy Research, Department of Neuropathology, University Hospital Bonn, 53127 Bonn, Germany.; Department of Epileptology, University Hospital Bonn, 53127 Bonn, Germany., Tsortouktzidis D; Section for Translational Epilepsy Research, Department of Neuropathology, University Hospital Bonn, 53127 Bonn, Germany., Velasquez LM; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Voigt A; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Schilling K; Anatomisches Institut, Anatomie und Zellbiologie, Faculty of Medicine, University of Bonn, 53115 Bonn, Germany., Mattei D; Institute of Veterinary Pharmacology and Toxicology, University of Zürich (UZH), 8057 Zürich, Switzerland., Long M; Animal Outcome Core Facility of the NeuroCure Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Institute of Cognitive Neurobiology, Humboldt University, 10117 Berlin, Germany., Vogt G; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Fischer-Zirnsak B; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Wittler L; Department Developmental Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Timmermann B; Sequencing Core Facility, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032., Horn D; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany., Mundlos S; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Kornak U; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany., Becker AJ; Section for Translational Epilepsy Research, Department of Neuropathology, University Hospital Bonn, 53127 Bonn, Germany., Schmitz D; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Winter Y; Animal Outcome Core Facility of the NeuroCure Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Institute of Cognitive Neurobiology, Humboldt University, 10117 Berlin, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany; pkrawitz@uni-bonn.de.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Jan 12; Vol. 118 (2).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Glycosylphosphatidylinositols/*genetics , Glycosylphosphatidylinositols/*metabolism , Mannosyltransferases/*metabolism, Abnormalities, Multiple/genetics ; Amino Acid Sequence ; Amino Acids/genetics ; Animals ; CRISPR-Cas Systems ; Disease Models, Animal ; Epilepsy/genetics ; Glycosylphosphatidylinositols/deficiency ; Hippocampus/metabolism ; Intellectual Disability/genetics ; Mannosyltransferases/physiology ; Mice ; Mice, Inbred C57BL ; Mutation ; Mutation, Missense ; Phenotype ; Protein Engineering/methods ; Seizures/genetics ; Seizures/physiopathology

SCR Disease Name: Glycosylphosphatidylinositol deficiency