Authors: Lesmann, Hellen, Lyon, Gholson J., Caro, Pilar, Abdelrazek, Ibrahim M., Moosa, Shahida, Pantel, Jean Tori, ten Hagen, Merle, Rosnev, Stanislav, Kamphans, Tom, Meiswinkel, Wolfgang, Li, Jing-Mei, Klinkhammer, Hannah, Hustinx, Alexander, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Marchi, Elaine, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Nabil, Amira, Graziano, Claudio, Artem, Borovikov, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Höller, Matthias, Alaaeldin, Khoshoua, Jezela-Stanek, Aleksandra, Mohamed, Amal, Lasa-Aranzasti, Amaia, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Küry, Sébastien, Arlt, Annabelle, Marbach, Felix, Netzer, Christian, Kaptain, Sophia, Weiland, Hannah, Devriendt, Koen, Gripp, Karen W., Mücke, Martin, Verloes, Alain, Schaaf, Christian P., Nellåker, Christoffer, Solomon, Benjamin D., Waikel, Rebekah, Abdalla, Ebtesam, Nöthen, Markus M., Krawitz, Peter M., Hsieh, Tzung-Chien
Superior Title: medRxiv
Subject Terms: Article
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10371103/; http://dx.doi.org/10.1101/2023.06.06.23290887
Authors: Lesmann, Hellen, Moosa, Shahida, Pantel, Tori, Rosnev, Stanislav, Hustinx, Alexander, Javanmardi, Behnam, Knaus, Alexej, Kamphans, Tom, Meiswinkel, Wolfgang, Li, Jing-Mei, Hagen, Merle ten, Caro, Pilar, Velmans, Clara, Höller, Matthias, Abdelrazek, Ibrahim, Elmakkawy, Gehad, Alaadin, Khoushoua, Coetzer, Kimberly Christine, Ebstein, Frédéric, Küry, Sebastian, Abdalla, Ebtesam, Elbracht, Miriam, Knopp, Cordula, Arlt, Annabelle, Graziano, Claudio, Artem, Borovikov, Uwineza, Annette, Marbach, Felix, Netzer, Christian, Jamra, Rami Abou, Nöthen, Markus, Lyon, Gholson, Krawitz, Peter, Hsieh, Tzung-Chien
Superior Title: Genetics in Medicine Open ; volume 1, issue 1, page 100225 ; ISSN 2949-7744
Authors: Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, HannsAff7, Aff8, Aff9, Aff10, Horvath, Rita, Oktay, YavuzAff11, Aff4, Aff12, Roos, AndreasAff5, Aff7, IDs1302302102068w_cor16, Hiz, Semra
Superior Title: Orphanet Journal of Rare Diseases. 17(1)
Authors: Lochmueller, Hanns, Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Gross, Claudia, EDEM, PINAR, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, OKTAY, YAVUZ, HIZ, AYŞE SEMRA, Toepf, Ana, Szabo, Nora, Horvath, Rita, Roos, Andreas
Relation: 23fe0306-6440-4b85-9c5f-884f2fbe14bb; https://avesis.deu.edu.tr/publication/details/23fe0306-6440-4b85-9c5f-884f2fbe14bb/oai
Authors: Della Marina, Adela, Arlt, Annabelle, Schara-Schmidt, Ulrike, Depienne, Christel, Gangfuß, Andrea, Kölbel, Heike, Sickmann, Albert, Freier, Erik, Kohlschmidt, Nicolai, Hentschel, Andreas, Weis, Joachim, Czech, Artur, Grüneboom, Anika, Roos, Andreas
Subject Terms: ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Kinderheilkunde I/Perinatalzentrum, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik, SLC18A1 -- congenital myasthenic syndrome -- vesicular acetylcholine transporter (VAChT) -- lipid accumulation -- muscle biopsy -- CARS microscopy
Relation: https://doi.org/10.3390/cells10123481; https://nbn-resolving.org/urn:nbn:de:hbz:465-20220801-112518-0; https://duepublico2.uni-due.de/receive/duepublico_mods_00076367; https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00076109/cells_2021-10-03481.pdf
Authors: Arlt, Annabelle
Subject Terms: ddc:610
Relation: http://doi.org/10.25358/openscience-4817; https://openscience.ub.uni-mainz.de/handle/20.500.12030/4819
Authors: Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pinar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Subject Terms: Connective tissue disorder, ER-stress, Fibroblast proteomics, Focal dermal hypoplasia, Goltz syndrome, Lamin a/c, Protein-serine O-palmitoleoyltransferase porcupine
File Description: application/pdf
Relation: Orphanet J Rare Dis. 2022 Jan 31;17(1):29; info:eu-repo/grantAgreement/EC/FP7/309548; info:eu-repo/grantAgreement/EC/FP7/313010; info:eu-repo/grantAgreement/EC/FP7/305444; info:eu-repo/grantAgreement/EC/H2020/779257; Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphanet J Rare Dis. 2022 Jan 31;17(1):29. DOI:10.1186/s13023-021-02068-w; http://hdl.handle.net/10230/52852; http://dx.doi.org/10.1186/s13023-021-02068-w