Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Martina, Baethmann"'
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:
G. C. Korenke, Kerstin Kutsche, Martina Baethmann, Tatjana Bierhals, Martin Staudt, Laura López Marín
Publikováno v:
European Journal of Medical Genetics. 61:329-334
Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM, isolated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1c5ce140efa293803a06783428b08d
https://doi.org/10.1016/j.ejmg.2018.01.010
https://doi.org/10.1016/j.ejmg.2018.01.010
Publikováno v:
Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d41df9ed94760d8f15723d8b856b388
https://doi.org/10.1055/s-0039-1698274
https://doi.org/10.1055/s-0039-1698274
Autor:
Milka, Pringsheim, Diana, Mitter, Simone, Schröder, Rita, Warthemann, Kim, Plümacher, Gerhard, Kluger, Martina, Baethmann, Thomas, Bast, Sarah, Braun, Hans-Martin, Büttel, Elizabeth, Conover, Carolina, Courage, Alexandre N, Datta, Angelika, Eger, Theresa A, Grebe, Annette, Hasse-Wittmer, Marion, Heruth, Karen, Höft, Angela M, Kaindl, Stephanie, Karch, Torsten, Kautzky, Georg C, Korenke, Bernd, Kruse, Richard E, Lutz, Heymut, Omran, Steffi, Patzer, Heike, Philippi, Keri, Ramsey, Tina, Rating, Angelika, Rieß, Mareike, Schimmel, Rachel, Westman, Frank-Martin, Zech, Birgit, Zirn, Pauline A, Ulmke, Godwin, Sokpor, Tran, Tuoc, Andreas, Leha, Martin, Staudt, Knut, Brockmann
Publikováno v:
Annals of Clinical and Translational Neurology
Objective FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9276898e4ccb621327463e48c5639f79
http://hdl.handle.net/10138/301566
http://hdl.handle.net/10138/301566
Autor:
Sorina Mihaela Papuc, Pascal Joset, Lisa M. Crowther, Pasquale Striano, Anaïs Begemann, Anita Rauch, Bernhard Schmitt, Barbara Plecko, Federico Zara, Heinrich Sticht, Francesca Beccaria, Martina Baethmann, Maria Stella Vari, Déborah Mathis, Markus Zweier
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently bia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4725fd1810fd6a78367b9c3032b56c70
https://www.zora.uzh.ch/id/eprint/138782/
https://www.zora.uzh.ch/id/eprint/138782/
Autor:
Tilman Polster, Joerg Klepper, Marion Traus, Thomas Bast, Hartmut Koch, Florian Heinen, Andreas Fiedler, Dietz Rating, Rudolf Korinthenberg, Martina Baethmann, Harald Bode, Moritz Tacke, Christiane Hikel, Joachim Opp, Soeren Heß, Hildegard Wendker-Magrabi, Gerhard Kluger, Hedwig Freitag, Katharina Vill, Elisabeth Tuschen-Hofstätter, Zeecam Hoovey, Peter Dahlem, Hiltrud Muhle, Evemarie Feldmann, Gabriele Weber, Johann Penzien, Hans-Georg Hoffmann, Gerhard Kurlemann, Peter Navratil, Walter Koch, Hans-Michael Straßburg, Friedrich Bosch, Mohammed Ghiath Shamdeen, Ulrich Brandl, Stephan Waltz, Markus Wolff, Bärbel Töpke, Ilona Krois, Klaus Reinhardt, Jan-Peter Ernst, Axel Quattländer, Matthias Kieslich, Michaela Bonfert, Hermann Kühne, Harald M Blank, Michael Gerigk, Christian Blank, Ingo Borggraefe, Ulrich Stephani, K. Brockmann, Ulrike Schara, Frank U Wien, Bernd A. Neubauer, Friedrich A. M. Baumeister, Lucia Gerstl, Ötzcam Sönmez, Ulrike Mause, Regina Trollmann, Michaela Mandl, Viola Prietsch, Karl Bentele, Andreas Sprinz
Publikováno v:
Seizure. 56
Purpose BECTS (benign childhood epilepsy with centrotemporal spikes) is associated with characteristic EEG findings. This study examines the influence of anti-convulsive treatment on the EEG. Methods In a randomized controlled trial including 43 chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f883fbf52e93e9d0028fa8eb88c452
https://pubmed.ncbi.nlm.nih.gov/29475094
https://pubmed.ncbi.nlm.nih.gov/29475094
Autor:
Barbara, Plecko, Markus, Zweier, Anaïs, Begemann, Deborah, Mathis, Bernhard, Schmitt, Pasquale, Striano, Martina, Baethmann, Maria Stella, Vari, Francesca, Beccaria, Federico, Zara, Lisa M, Crowther, Pascal, Joset, Heinrich, Sticht, Sorina Mihaela, Papuc, Anita, Rauch
Publikováno v:
Journal of medical genetics. 54(12)
Vitamin-B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1155063cfff0a4c12e35a932c188cff4
https://pubmed.ncbi.nlm.nih.gov/28391250
https://pubmed.ncbi.nlm.nih.gov/28391250
Publikováno v:
Neuropediatrics. 45:266-272
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4392addfffaf3d0422e1f561c96f51a7
https://doi.org/10.1055/s-0034-1384835
https://doi.org/10.1055/s-0034-1384835
Publikováno v:
Neuropediatrics. 45:201-204
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ca1ab8176660a26bf221d4eec7c003b
https://doi.org/10.1055/s-0034-1376155
https://doi.org/10.1055/s-0034-1376155
Publikováno v:
Neuropediatrics. 45:133-136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f086edd2106bb8941082b6d2fa8c761
https://doi.org/10.1055/s-0034-1372305
https://doi.org/10.1055/s-0034-1372305