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  1. Grünert, Sarah [Author]; Hannibal, Luciana [Author]; Schumann, Anke [Author]; Rosenbaum-Fabian, Stefanie [Author]; Beck-Wödl, Stefanie [Author]; Haack, Tobias [Author]; Grimmel, Mona [Author]; Bertrand, Miriam [Author]; Spiekerkötter, Ute [Author]

    Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families

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    Basel: MDPI, 2021

    Published in: Diagnostics ; 11, 3 (2021), 500

  2. Grünert, Sarah [Author]; Schumann, Anke [Author]; Freisinger, Peter [Author]; Rosenbaum-Fabian, Stefanie [Author]; Schmidts, Miriam [Author]; Müller, Amelie Johanna [Author]; Beck-Wödl, Stefanie [Author]; Haack, Tobias [Author]; Schneider, Hendryk [Author]; Fuchs, Hans [Author]; Teufel-Schäfer, Ulrike [Author]; Gramer, Gwendolyn [Author]; Hannibal, Luciana [Author]; Spiekerkötter, Ute [Author]

    Citrin deficiency mimicking mitochondrial depletion syndrome

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    London: Springer Nature, 2020

    Published in: BMC pediatrics ; 20, 1 (2020), 518

  6. Ungerath, Kristina; Lischetzki, Grischa; Schipper, Birgit; Beck-Wödl, Stefanie

    P 1155. Focal Epilepsy Difficult to Treat in Hermann–Pallister’s Syndrome (KBG Syndrome)

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    Georg Thieme Verlag KG, 2018

    Published in: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics

  7. Laugwitz, Lucia; Grimmel, Mona; Buchert, Rebecca; Sturm, Marc; Beck-Wödl, Stefanie; Rieß, Olaf; Haack, Tobias

    FV 943. Facilitating a Molecular Diagnosis as Soon as Possible: Diagnostic Exome in Neurometabolic Disorders

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    Georg Thieme Verlag KG, 2018

    Published in: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics

  8. Jecel, Julia; Harzer, Klaus; Paschke, Eduard; Beck-Wödl, Stefanie; Bauer, Peter; Hejtman, Milos; Katzenschlager, Regina

    Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, OverexpressedNPC1Allele

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    FapUNIFESP (SciELO), 2015

    Published in: Journal of Inborn Errors of Metabolism and Screening

  11. Beck-Wödl, Stefanie; Harzer, Klaus; Sturm, Marc; Buchert, Rebecca; Rieß, Olaf; Mennel, Hans-Dieter; Latta, Elisabeth; Pagenstecher, Axel; Keber, Ursula

    Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

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    Springer Science and Business Media LLC, 2018

    Published in: Acta Neuropathologica Communications

  13. Grünert, Sarah C.; Hannibal, Luciana; Schumann, Anke; Rosenbaum-Fabian, Stefanie; Beck-Wödl, Stefanie; Haack, Tobias B.; Grimmel, Mona; Bertrand, Miriam; Spiekerkoetter, Ute

    Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

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    MDPI AG, 2021

    Published in: Diagnostics

  14. Kern, Jan; Böhringer, Judith; Timmann, Dagmar; Trollmann, Regina; Stendel, Claudia; Kamm, Cristoph; Röbl, Markus; Santhanakumaran, Vidiyaah; Groeschel, Samuel; Beck-Wödl, Stefanie; Göricke, Sophia; Krägeloh-Mann, Ingeborg; Synofzik, Matthis

    Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis : Beyond Age of Onset : Beyond Age of Onset

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    Ovid Technologies (Wolters Kluwer Health), 2024

    Published in: Neurology

  15. Grosse, Martin; Kuechler, Alma; Dabir, Tabib; Spranger, Stephanie; Beck-Wödl, Stefanie; Bertrand, Miriam; Haack, Tobias B.; Grasemann, Corinna; Manka, Eva; Depienne, Christel; Kaiser, Frank J.

    Novel Variants of SOX4 in Patients with Intellectual Disability

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    MDPI AG, 2023

    Published in: International Journal of Molecular Sciences

  16. Ganser, Katrin; Eckert, Franziska; Riedel, Andreas; Stransky, Nicolai; Paulsen, Frank; Noell, Susan; Krueger, Marcel; Schittenhelm, Jens; Beck‐Wödl, Stefanie; Zips, Daniel; Ruth, Peter; Huber, Stephan M.; Klumpp, Lukas

    Patient‐individual phenotypes of glioblastoma stem cells are conserved in culture and associate with radioresistance, brain infiltration and patient prognosis

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    Wiley, 2022

    Published in: International Journal of Cancer

  17. Kehrer, Christiane; Elgün, Saskia; Raabe, Christa; Böhringer, Judith; Beck-Wödl, Stefanie; Bevot, Andrea; Kaiser, Nadja; Schöls, Ludger; Krägeloh-Mann, Ingeborg; Groeschel, Samuel

    Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy

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    Ovid Technologies (Wolters Kluwer Health), 2021

    Published in: Neurology

  18. Beck‐Wödl, Stefanie; Kehrer, Christiane; Harzer, Klaus; Haack, Tobias B.; Bürger, Friederike; Haas, Dorothea; Rieß, Angelika; Groeschel, Samuel; Krägeloh‐Mann, Ingeborg; Böhringer, Judith

    Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

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    Wiley, 2021

    Published in: JIMD Reports

  19. Elgün, Saskia; Waibel, Jakob; Kehrer, Christiane; van Rappard, Diane; Böhringer, Judith; Beck-Wödl, Stefanie; Just, Jennifer; Schöls, Ludger; Wolf, Nicole; Krägeloh-Mann, Ingeborg; Groeschel, Samuel

    Phenotypic variation between siblings with Metachromatic Leukodystrophy

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    Springer Science and Business Media LLC, 2019

    Published in: Orphanet Journal of Rare Diseases