| Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases A Hentschel, A Czech, U Münchberg, E Freier, U Schara-Schmidt, ... Orphanet Journal of Rare Diseases 16, 1-18, 2021 | 22 | 2021 |
| Molecular pathophysiology of human MICU1‐deficiency N Kohlschmidt, M Elbracht, A Czech, M Häusler, V Phan, A Töpf, ... Neuropathology and Applied Neurobiology, 2021 | 18 | 2021 |
| Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and … A Gangfuß, A Czech, A Hentschel, U Münchberg, R Horvath, A Töpf, ... The Journal of Pathology 256 (1), 93-107, 2022 | 6 | 2022 |
| New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1 H Kölbel, F Kraft, A Hentschel, A Czech, A Gangfuss, P Mohassel, ... Genes 13 (5), 893, 2022 | 2 | 2022 |
| Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3 A Della Marina, A Arlt, U Schara-Schmidt, C Depienne, A Gangfuß, ... Cells 10 (12), 3481, 2021 | 1 | 2021 |
| Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes A Della Marina, A Hentschel, A Czech, U Schara-Schmidt, C Preusse, ... Journal of Neuromuscular Diseases, 1-21, 2024 | | 2024 |
| Molecular mechanisms in chloroquine‐exposed muscle cells elucidated by combined proteomic and microscopic studies V Phan, D Hathazi, C Preuße, A Czech, E Freier, G Shema, RP Zahedi, ... Neuropathology and Applied Neurobiology 49 (1), e12877, 2023 | | 2023 |
| NEW GENES AND DISEASES: EP. 305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement A Gangfuß, A Czech, A Hentschel, U Münchberg, R Horvath, A Töpf, ... Neuromuscular Disorders 31, S143, 2021 | | 2021 |
Erik FreierInterdisziplinäres Zentrum Machine Learning and Data Analytics - Bergische Universität WuppertalVerified email at uni-wuppertal.de
