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7
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy. 미리보기

학술저널

issue
Brain : a journal of neurology [Brain] 2024 Mar 15. Date of Electronic Publication: 2024 Mar 15.
Author
Bergner CG; Department of Neurology, University Hospital Leipzig, Leipzig 04103, Germany.
Breur M; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, VU University Amsterdam, Amsterdam, 1081 HV, The Netherlands.
Soto-Bernardini MC; Department of Neurology, University Hospital Leipzig, Leipzig 04103, Germany.; Center for Research in Biotechnology (CIB)/Costa Rica Institute of Technology (TEC), Cartago 159-7050, Costa Rica.
Schäfer L; Department of Neurology, University Hospital Leipzig, Leipzig 04103, Germany.
Lier J; Department of Neurology, University Hospital Leipzig, Leipzig 04103, Germany.
Le Duc D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
Bundalian L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
Brenner D; Department of Neurology, University Hosptital Ulm, Ulm 89070, Germany.
Kreuz FR; Center of Human Genetics Tuebingen, Tuebingen 72076, Germany.; CeGaT GmbH Tuebingen, Tuebingen 72076, Germany.
Schulte B; Center of Human Genetics Tuebingen, Tuebingen 72076, Germany.; CeGaT GmbH Tuebingen, Tuebingen 72076, Germany.
Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers location Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands.
Bugiani M; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, VU University Amsterdam, Amsterdam, 1081 HV, The Netherlands.; Department of Pathology, Amsterdam University Medical Centers, Amsterdam, 1081 HV, The Netherlands.
Köhler W; Department of Neurology, University Hospital Leipzig, Leipzig 04103, Germany.
Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.
Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
van der Knaap MS; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, VU University Amsterdam, Amsterdam, 1081 HV, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, The Netherlands.
DB Label
Database : MEDLINE
원문보기
Full Text (OUP)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
8
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology. 미리보기

issue
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Mar 10. Date of Electronic Publication: 2023 Mar 10.
Author
Bundalian L; Institute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.
Su YY; Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Chen S; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Velluva A; Division of General Biochemistry, Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, Leipzig University, 04103, Leipzig, Germany.; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103, Leipzig, Germany.
Kirstein AS; Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103, Leipzig, Germany.
Garten A; Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103, Leipzig, Germany.
Biskup S; CeGaT GmbH, 72076, Tuebingen, Germany.; Hertie-Institute for Clinical Brain Research, 72070, Tubingen, Germany.
Battke F; CeGaT GmbH, 72076, Tuebingen, Germany.
Lal D; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Cologne Center for Genomics, University of Cologne, 50937 Cologne, Germany.
Heyne HO; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hasso-Plattner-Institut for Digital Engineering, University of Potsdam, Potsdam, Germany.; Hasso Plattner Institute at Mount Sinai, Mount Sinai School of Medicine, NY, US.; Institute for Molecular Medicine Finland: FIMM, University of Helsinki, Helsinki, Finland.
Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.
Lin CC; Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, 4103 Leipzig, Germany.
Le Duc D; Institute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103, Leipzig, Germany.
DB Label
Database : MEDLINE
1 
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