Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Stefanie Beck-Wödl"'
Autor:
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intel
Externí odkaz:
https://doaj.org/article/96bb68fe9add4f0698345b5dfbe47645
Autor:
Stefanie Beck‐Wödl, Christiane Kehrer, Klaus Harzer, Tobias B. Haack, Friederike Bürger, Dorothea Haas, Angelika Rieß, Samuel Groeschel, Ingeborg Krägeloh‐Mann, Judith Böhringer
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 80-88 (2021)
Abstract Multiple sulfatase deficiency (MSD) is a lysosomal storage disease caused by a deficiency of formylglycine‐generating enzyme due to SUMF1 defects. MSD may be misdiagnosed as metachromatic leukodystrophy (MLD), as neurological and neuroimag
Externí odkaz:
https://doaj.org/article/e1a3ff9a3fa64c99b18ee68dbf364159
Autor:
Martin Grosse, Alma Kuechler, Tabib Dabir, Stephanie Spranger, Stefanie Beck-Wödl, Miriam Bertrand, Tobias B. Haack, Corinna Grasemann, Eva Manka, Christel Depienne, Frank J. Kaiser
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3519 (2023)
SOX4 is a transcription factor with pleiotropic functions required for different developmental processes, such as corticogenesis. As with all SOX proteins, it contains a conserved high mobility group (HMG) and exerts its function via interaction with
Externí odkaz:
https://doaj.org/article/f237a36bc14048569bac11c056580638
Autor:
Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, Alma Kuechler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted regio
Externí odkaz:
https://doaj.org/article/712697eba97847ddae14ef131df71986
Autor:
Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, Stefanie Beck-Wödl, Ralf A. Husain, Ludger Schöls, Christiane Kehrer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-17 (2020)
Abstract Background Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to describe the natur
Externí odkaz:
https://doaj.org/article/e189111cbc8140d9aa1744a847b61cce
Autor:
Saskia Elgün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck-Wödl, Jennifer Just, Ludger Schöls, Nicole Wolf, Ingeborg Krägeloh-Mann, Samuel Groeschel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype-phenotype correla
Externí odkaz:
https://doaj.org/article/18973d713b264693bee6cb2ec96b1533
Autor:
Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-15 (2018)
Abstract Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, charact
Externí odkaz:
https://doaj.org/article/940ccc65bbc64518b8c463bd8eef7ec1
Autor:
Vidiyaah, Santhanakumaran, Samuel, Groeschel, Klaus, Harzer, Christiane, Kehrer, Saskia, Elgün, Stefanie, Beck-Wödl, Holger, Hengel, Ludger, Schöls, Tobias B, Haack, Ingeborg, Krägeloh-Mann, Lucia, Laugwitz
Publikováno v:
Molecular Genetics and Metabolism. 137:273-282
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Subsequent accumulation of sulfatides leads to demyelination and neurodegeneration in the central and peripheral ne
Autor:
Andreas Roos, Peter F M van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil, Adela Della Marina, Joachim Weis, Marvin Aßent, Stefanie Beck-Wödl, Rita Barresi, Ana Töpf, Kaela O’Connor, Albert Sickmann, Nicolai Kohlschmidt, Magdeldin El Gizouli, Nancy Meyer, Nassam Daya, Valentina Grande, Karin Bois, Frank J Kaiser, Matthias Vorgerd, Christopher Schröder, Ulrike Schara-Schmidt, Andrea Gangfuss, Teresinha Evangelista, Luisa Röbisch, Andreas Hentschel, Anika Grüneboom, Dieter O Fuerst, Alma Kuechler, Andreas Tzschach, Christel Depienne, Hanns Lochmüller
Publikováno v:
Brain.
Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in neuronal and muscle function and integrity and interacts with FLNa and FLNc. Pathogenic variants in filamin-encoding genes have been linked to neurological disorders
Autor:
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner
Most individuals with rare diseases initially consult their primary care physician. For a subset of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases often require both expert clinical knowledge and comprehensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824
https://doi.org/10.1101/2023.04.19.23288824