Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature
Himmelreich, Nastassja, Dimitrov, Bianca, Zielonka, Matthias, Hüllen, Andreas, Hoffmann, Georg Friedrich, Juenger, Hendrik, Müller, Herbert, Lorenz, Imke, Busse, Birgit, Marschall, Christoph, Schlüter, Gregor, Thiel, Christian
Published in Molecular genetics and metabolism (01.08.2022)
Published in Molecular genetics and metabolism (01.08.2022)
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A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder
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Published in EMBO molecular medicine (07.09.2021)
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Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects
Görlacher, Marlen, Panagiotou, Eleftheria, Himmelreich, Nastassja, Hüllen, Andreas, Beedgen, Lars, Dimitrov, Bianca, Geiger, Virginia, Zielonka, Matthias, Peters, Verena, Strahl, Sabine, Vázquez-Jiménez, Jaime, Kerst, Gunter, Thiel, Christian
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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A rapid and simple procedure for the isolation and cultivation of fibroblast-like cells from medaka and zebrafish embryos and fin clip biopsies
Beedgen, Lars, Hüllen, Andreas, Gücüm, Sevinç, Thumberger, Thomas, Wittbrodt, Jochen, Thiel, Christian
Published in Laboratory animals (London) (01.06.2022)
Published in Laboratory animals (London) (01.06.2022)
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Congenital disorders of glycosylation with defective fucosylation
Hüllen, Andreas, Falkenstein, Kristina, Weigel, Corina, Huidekoper, Hidde, Naumann‐Bartsch, Nora, Spenger, Johannes, Feichtinger, René G., Schaefers, Jacqueline, Frenz, Stephanie, Kotlarz, Daniel, Momen, Tooba, Khoshnevisan, Razieh, Riedhammer, Korbinian M., Santer, René, Herget, Theresia, Rennings, Alexander, Lefeber, Dirk J., Mayr, Johannes A., Thiel, Christian, Wortmann, Saskia B.
Published in Journal of inherited metabolic disease (01.11.2021)
Published in Journal of inherited metabolic disease (01.11.2021)
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Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus
Himmelreich, Nastassja, Dimitrov, Bianca, Geiger, Virginia, Zielonka, Matthias, Hutter, Anna‐Marlen, Beedgen, Lars, Hüllen, Andreas, Breuer, Maximilian, Peters, Verena, Thiemann, Kai‐Christian, Hoffmann, Georg F., Sinning, Irmgard, Dupré, Thierry, Vuillaumier‐Barrot, Sandrine, Barrey, Catherine, Denecke, Jonas, Kölfen, Wolfgang, Düker, Gesche, Ganschow, Rainer, Lentze, Michael J., Moore, Stuart, Seta, Nathalie, Ziegler, Andreas, Thiel, Christian
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
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PHOTOBIOMODULATION DECONTAMINATION METHOD
KLAPCZYNSKI, Anna, MU, Yifei, KUCH, Natalia, STEINBRUNN, Julien Denis Marie, BOUSCHBACHER, Marielle, HULLEN, Andreas, GRETZ, Norbert, BECKER, Anja, LAVIGNE, Louis
Year of Publication 27.03.2024
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Year of Publication 27.03.2024
Patent
PHOTOBIOMODULATION DECONTAMINATION METHOD
KLAPCZYNSKI, Anna, MU, Yifei, KUCH, Natalia, STEINBRUNN, Julien Denis Marie, BOUSCHBACHER, Marielle, HULLEN, Andreas, GRETZ, Norbert, BECKER, Anja, LAVIGNE, Louis
Year of Publication 27.03.2024
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Year of Publication 27.03.2024
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PHOTOBIOMODULATION DEVICE
KLAPCZYNSKI, Anna, MU, Yifei, KUCH, Natalia, STEINBRUNN, Julien Denis Marie, BOUSCHBACHER, Marielle, HULLEN, Andreas, GRETZ, Norbert, BECKER, Anja, LAVIGNE, Louis
Year of Publication 27.04.2022
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Year of Publication 27.04.2022
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PHOTOBIOMODULATION DEVICE
KLAPCZYNSKI, Anna, MU, Yifei, KUCH, Natalia, STEINBRUNN, Julien Denis Marie, BOUSCHBACHER, Marielle, HULLEN, Andreas, GRETZ, Norbert, BECKER, Anja, LAVIGNE, Louis
Year of Publication 25.02.2021
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Year of Publication 25.02.2021
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PHOTOBIOMODULATION DEVICE
KLAPCZYNSKI, Anna, MU, Yifei, KUCH, Natalia, STEINBRUNN, Julien Denis Marie, BOUSCHBACHER, Marielle, HULLEN, Andreas, GRETZ, Norbert, BECKER, Anja, LAVIGNE, Louis
Year of Publication 02.12.2020
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Year of Publication 02.12.2020
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PHOTOBIOMODULATION DEVICE
KLAPCZYNSKI, Anna, MU, Yifei, KUCH, Natalia, STEINBRUNN, Julien Denis Marie, BOUSCHBACHER, Marielle, HULLEN, Andreas, GRETZ, Norbert, BECKER, Anja, LAVIGNE, Louis
Year of Publication 01.08.2019
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Year of Publication 01.08.2019
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PHOTOBIOMODULATION DEVICE
KLAPCZYNSKI, Anna, MU, Yifei, KUCH, Natalia, STEINBRUNN, Julien Denis Marie, BOUSCHBACHER, Marielle, HULLEN, Andreas, GRETZ, Norbert, BECKER, Anja, LAVIGNE, Louis
Year of Publication 31.07.2019
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Year of Publication 31.07.2019
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PHOTOBIOMODULATION DEVICE
BECKER ANJA, HULLEN ANDREAS, KUCH NATALIA, MU YIFEI, BOUSCHBACHER MARIELLE, STEINBRUNN JULIEN DENIS MARIE, KLAPCZYNSKI ANNA, LAVIGNE LOUIS, GRETZ NORBERT
Year of Publication 16.10.2020
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Year of Publication 16.10.2020
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