Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Autor: Schmidt, Axel, Danyel, Magdalena, Grundmann, Kathrin, Brunet, Theresa, Klinkhammer, Hannah, Hsieh, Tzung-Chien, Engels, Hartmut, Peters, Sophia, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Boschann, Felix, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Bösch, Annemarie, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kaindl, Angela M., Holzhauer, Susanne, Bührer, Christoph, Bufler, Philip, Kornak, Uwe, Ott, Claus-Eric, Schülke, Markus, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Grasemann, Corinna, Rothoeft, Tobias, Brinkmann, Folke, Matar, Nora, Sivalingam, Sugirthan, Perne, Claudia, Mangold, Elisabeth, Kreiss, Martina, Cremer, Kirsten, Betz, Regina C., Mücke, Martin, Grigull, Lorenz, Klockgether, Thomas, Spier, Isabel, Heimbach, André, Bender, Tim, Brand, Fabian, Stieber, Christiane, Morawiec, Alexandra Marzena, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Grobe-Einsler, Marcus, Kimmich, Okka, Kobeleva, Xenia, Önder, Demet, Lesmann, Hellen, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Incardona, Pietro, Lee-Kirsch, Min Ae, Berner, Reinhard, Schuetz, Catharina, Körholz, Julia, Kretschmer, Tanita, Di Donato, Nataliya, Schröck, Evelin, Heinen, André, Reuner, Ulrike, Hanßke, Amalia-Mihaela, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Kuechler, Alma, Cordula, Kiewert, Hirtz, Raphael, Schlapakow, Elena, Schlein, Christian, Lisfeld, Jasmin, Kubisch, Christian, Herget, Theresia, Hempel, Maja, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Rudolph, Cornelia, Rillig, Franziska, Groffmann, Maximilian, Muntau, Ania, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Kaufmann, Lilian, Hinderhofer, Katrin, Okun, Pamela M., Kotzaeridou, Urania, Hoffmann, Georg F., Choukair, Daniela, Bettendorf, Markus, Spielmann, Malte, Ripke, Annekatrin, Pauly, Martje, Münchau, Alexander, Lohmann, Katja, Hüning, Irina, Hanker, Britta, Bäumer, Tobias, Herzog, Rebecca, Hellenbroich, Yorck, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Graf, Elisabeth, Brugger, Melanie, Hoefele, Julia, Oexle, Konrad, Mirza-Schreiber, Nazanin, Berutti, Riccardo, Schatz, Ulrich, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Rohlfs, Meino, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Müller-Felber, Wolfgang, Kurth, Ingo, Elbracht, Miriam, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Platzer, Konrad, Strehlow, Vincent, Abou Jamra, Rami, Kehrer, Martin, Demidov, German, Beck-Wödl, Stefanie, Graessner, Holm, Sturm, Marc, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Kaiser, Nadja, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Mundlos, Stefan, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias, Ehmke, Nadja, Wagner, Matias

Publikováno v: Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p

Corrigendum to “Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges” Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282

Autor: Santhanakumaran, Vidiyaah, Groeschel, Samuel, Harzer, Klaus, Kehrer, Christiane, Elgün, Saskia, Beck-Wödl, Stefanie, Hengel, Holger, Schöls, Ludger, Haack, Tobias B., Krägeloh-Mann, Ingeborg, Laugwitz, Lucia

Publikováno v: In Molecular Genetics and Metabolism March 2023 138(3)

Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data

Autor: Krieg, Sarah Isabel, Krägeloh-Mann, Ingeborg, Groeschel, Samuel, Beck-Wödl, Stefanie, Husain, Ralf A., Schöls, Ludger, Kehrer, Christiane

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-17 (2020)
Orphanet Journal of Rare Diseases

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 natural diseas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4abd21e4597bbf26786a6d3b2fd9f97c
http://link.springer.com/article/10.1186/s13023-020-01489-3

Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy

Autor: Beschle, Judith, Döring, Michaela, Kehrer, Christiane, Raabe, Christa, Bayha, Ute, Strölin, Manuel, Böhringer, Judith, Bevot, Andrea, Kaiser, Nadja, Bender, Benjamin, Grimm, Alexander, Lang, Peter, Müller, Ingo, Krägeloh-Mann, Ingeborg, Groeschel, Samuel

Publikováno v: Molecular and Cellular Pediatrics

Background Long-term outcomes of hematopoietic stem cell transplantation (HSCT) in children with juvenile metachromatic leukodystrophy (MLD) have been investigated systematically, while short-term effects of HSCT on the course of the disease remain t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d6d79ce5716439ea9497af5e6937bc1b
https://pubmed.ncbi.nlm.nih.gov/32910272

Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy.

Autor: Cabanillas Stanchi, Karin Melanie, Böhringer, Judith, Strölin, Manuel, Groeschel, Samuel, Lenglinger, Katrin, Treuner, Claudia, Kehrer, Christiane, Laugwitz, Lucia, Bevot, Andrea, Kaiser, Nadja, Schumm, Michael, Lang, Peter, Handgretinger, Rupert, Krägeloh-Mann, Ingeborg, Müller, Ingo, Döring, Michaela

Publikováno v: Stem Cells & Development; Apr2022, Vol. 31 Issue 7-8, p163-175, 13p