apl. Prof. Dr. Christian Thiel-Hirschmann

Medizinische Fakultät Institute of Human Genetics

LAMA5 links extracellular matrix organization to a candidate WNT-associated endothelial signaling niche during human chondrogenesis (2026) Schulz A, Brockmann E, Uebe S, Ekici AB, Thiel C Journal article R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy (2025) Batonnet-Pichon S, Delort F, Lilienbaum A, Berwanger C, Schultheis D, Schlötzer-Schrehardt U, Schmidt A, et al. Journal article Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. (2024) Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, et al. Journal article SRD5A3-CDG: Twins with an intragenic tandem duplication (2022) Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, et al. Journal article Genetic diagnostic yield in a large cohort of patients with developmental and epileptic encephalopathy from Latin America: a preliminary report (2021) De Moraes HT, Urquia-Osorio H, Cavalcante CM, Guerreiro MM, Montenegro MA, Coan AC, Medina MT, et al. Conference contribution Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021) Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, et al. Journal article Making sense of missense variants in TTN-related congenital myopathies (2021) Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, et al. Journal article Clinical and molecular delineation of spondylocostal dysostosis type 3 (2021) Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al. Journal article Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder (2021) Hetzelt K, Kerling F, Kraus C, Rauch C, Thiel C, Winterholler M, Reis A, Zweier C Journal article Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions (2020) Eiber N, Fröb F, Schowalter M, Thiel C, Clemen CS, Schröder R, Hashemolhosseini S Journal article