Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Cornelia Daumer-Haas"'
Autor:
Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A. Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya Fleidervish, Fabiana Perrochi, Daniel Gitler, Israel Sekler
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Stavsky et al. examined the effects of deleting the mitochondrial sodium/lithium/calcium exchanger, NCLX, on mitochondrial and synaptic calcium homeostasis, synaptic activity, and plasticity in mice. Having identified a human mutation that impairs NC
Externí odkaz:
https://doaj.org/article/f0e2c7e570da4222b9804930f469cda4
Autor:
Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A. Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya Fleidervish, Fabiana Perocchi, Daniel Gitler, Israel Sekler
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/71dbc48b81ff44bf90112ee9c7bd576d
Autor:
Tomer Katoshevsky, Fabiana Perocchi, Daniel Gitler, Essam A. Assali, Steffen Leiz, Ohad Stoler, Marko Kostic, Yael Amitai, Ilya A. Fleidervish, Ivana Savic, Israel Sekler, Alexandra Stavsky, Holger Prokisch, Cornelia Daumer-Haas
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Comm. Biol. 4:666 (2021)
Communications Biology
Comm. Biol. 4:666 (2021)
Communications Biology
Calcium dynamics control synaptic transmission. Calcium triggers synaptic vesicle fusion, determines release probability, modulates vesicle recycling, participates in long-term plasticity and regulates cellular metabolism. Mitochondria, the main sour
Autor:
Fabiana Perocchi, Ivana Savic, Steffen Leiz, Tomer Katoshevsky, Cornelia Daumer-Haas, Daniel Gitler, Yael Amitai, Essam A. Assali, Israel Sekler, Ohad Stoler, Marko Kostic, Holger Prokisch, Alexandra Stavsky, Ilya A. Fleidervish
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-1 (2021)
Communications Biology
Communications Biology
Calcium dynamics control synaptic transmission. Calcium triggers synaptic vesicle fusion, determines release probability, modulates vesicle recycling, participates in long-term plasticity and regulates cellular metabolism. Mitochondria, the main sour
Autor:
Amy McTague, Siddharth Srivastava, Tamison Jewett, Ali Al-Beshri, Constance Smith-Hicks, Shelagh Joss, Jennifer A. Sullivan, Sarju G. Mehta, Koenraad Devriendt, Pascal Joset, Laurence Faivre, Emma Kivuva, William G. Wilson, Gunnar Houge, Naama Orenstein, Yana Hoorne, Vickie L. Hannig, Malou Heijligers, Bart Loeys, Vandana Shashi, Katrina Prescott, Iris Verbinnen, Annick Toutain, Lauren M. Baldwin, Stephen P. Fulton, Katharina Steindl, Anne Marie Childs, Anna Chassevent, Shelley Towner, Cornelia Daumer-Haas, Oded Wechsberg, Alison Male, Hannah F. Johnson, Wendy K. Chung, Anita Rauch, Anna Ruiz, Isabelle Maystadt, Sara Reynhout, Sébastien Moutton, Yvette van Ierland, Veerle Janssens, Frédéric Laumonnier, Martina Baethmann, Lisa Lenaerts, Vani Jain, Vinod Varghese, Suzanne M. Koudijs, Elisabeth Gabau, Frédérique Bonnet-Brilhault, Rizwan Hamid, Susan E. Holder, Barbara Plecko
Publikováno v:
Genetics in Medicine, 23(2), 352-362. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1563bdcdf43463d5995297a78f9c2f2
https://ddd.uab.cat/record/238621
https://ddd.uab.cat/record/238621
Autor:
Monika Schiesser, Lutz T. Weber, Hanns-Georg Klein, Cornelia Daumer-Haas, Imma Rost, Christian Wilhelm, Julia Hoefele, Reinhold Mack, Uwe Heinrich, Saskia Biskup
Publikováno v:
Gene. 520:194-197
Fraser syndrome (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and oral clefting, mental retardation, syndactyly, and urogenital defects. To date, 250 patients have been described in the lite
Autor:
Chayim Can Schell-Apacik, G. Uyanik, Daniel E. Pineda-Alvarez, Carola Altus, Nan Zhou, Erich Roessler, Peter Steuernagel, Ping Hu, Ute Hehr, Cornelia Daumer-Haas, Annechristin Meiner, Juergen Winkler, Maximilian Muenke, Andreas Hehr
Publikováno v:
Human Genetics. 127:555-561
Schizencephaly (SCH) is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces. The SCH cleft is usually lined by gra
Autor:
Sabine Langer, Hans-Jürgen Leifheit, Maja Hempel, Janine Wagenstaller, Gaby Lederer, Jochen B. Geigl, Cornelia Daumer-Haas, Michael R. Speicher
Publikováno v:
American Journal of Medical Genetics Part A. :764-768
In recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro-array technologies now allow the rapid fine mapping of small genomic imbalances. Here we used various technologi
Autor:
Daphne B. Mitchell, Uwe Kölsch, Jenny C. Taylor, Steffen Leiz, Usha Kini, John A. Phillips, Peter Krawitz, Stefan Mundlos, Björn Fischer, Yusuke Maeda, Alistair T. Pagnamenta, Samantha J. L. Knight, Denise Horn, Jochen Hecht, Peter N. Robinson, David A. Keays, Ulrike Krüger, Yoshiko Murakami, Taroh Kinoshita, Cornelia Daumer-Haas, Malcolm F. Howard
Publikováno v:
The American Journal of Human Genetics
Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (ID
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bad5d1fe5ef4eb5e1757a8438de1b006
https://hdl.handle.net/11858/00-001M-0000-0025-786D-C11858/00-001M-0000-0025-786F-8
https://hdl.handle.net/11858/00-001M-0000-0025-786D-C11858/00-001M-0000-0025-786F-8
Autor:
Thomas Meitinger, Gisela Müller, Jan Murken, Simone Schuffenhauer, Cornelia Daumer-Haas, Christine Löffler, Albrecht Kobelt
Publikováno v:
American Journal of Medical Genetics. 65:56-59
Karyotypes with an interstitial deletion and a marker chromosome formed from the deleted segment are rare. We identified such a rearrangement in a newborn infant, who presented with macrocephaly, asymmetric square skull, minor facial anomalies, ompha