| Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness A Töpf, K Johnson, A Bates, L Phillips, KR Chao, EM England, ... Genetics in medicine 22 (9), 1478-1488, 2020 | 71 | 2020 |
| Microglia heterogeneity and neurodegeneration: The emerging paradigm of the role of immunity in Alzheimer's disease A Hashemiaghdam, M Mroczek Journal of neuroimmunology 341, 577185, 2020 | 71 | 2020 |
| Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A) T Prukop, J Stenzel, S Wernick, T Kungl, M Mroczek, J Adam, D Ewers, ... PloS one 14 (1), e0209752, 2019 | 36 | 2019 |
| Pathogenic variants in the myosin chaperone UNC-45B cause progressive myopathy with eccentric cores S Donkervoort, CE Kutzner, Y Hu, X Lornage, J Rendu, T Stojkovic, ... The American Journal of Human Genetics 107 (6), 1078-1095, 2020 | 28 | 2020 |
| The Thousand Polish Genomes—a database of Polish variant allele frequencies E Kaja, A Lejman, D Sielski, M Sypniewski, T Gambin, M Dawidziuk, ... International Journal of Molecular Sciences 23 (9), 4532, 2022 | 19 | 2022 |
| A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features M Mroczek, D Kabzińska, KH Chrzanowska, M Pronicki, A Kochański Journal of applied genetics 58, 199-203, 2017 | 19 | 2017 |
| Imaging transcriptomics in neurodegenerative diseases M Mroczek, A Desouky, W Sirry Journal of Neuroimaging 31 (2), 244-250, 2021 | 17 | 2021 |
| Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies M Mroczek, D Kabzińska, A Kochański Acta Neurobiologiae Experimentalis 75 (2), 126-143, 2015 | 16 | 2015 |
| Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features M Mroczek, H Durmus, A Töpf, Y Parman, V Straub Genes 11 (7), 716, 2020 | 15 | 2020 |
| Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients M Mroczek, H Durmus, S Bijarnia-Mahay, A Töpf, R Ghaoui, S Bryen, ... Neuromuscular Disorders 30 (4), 310-314, 2020 | 12 | 2020 |
| Genetics, genomics and emerging molecular therapies of pancreatic cancer J Liu, M Mroczek, A Mach, M Stępień, A Aplas, B Pronobis-Szczylik, ... Cancers 15 (3), 779, 2023 | 10 | 2023 |
| Three individuals with PURA syndrome in a cohort of patients with neuromuscular disease M Mroczek, D Zafeiriou, J Gurgel-Gianetti, BVM de Azevedo, A Roos, ... Neuropediatrics 52 (05), 390-393, 2021 | 8 | 2021 |
| Genetic modifiers and phenotypic variability in neuromuscular disorders M Mroczek, MG Sanchez Journal of applied genetics 61 (4), 547-558, 2020 | 8 | 2020 |
| CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related M Mroczek, I Inashkina, J Stavusis, P Zayakin, A Khrunin, I Micule, ... Human mutation 43 (10), 1347-1353, 2022 | 7 | 2022 |
| Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) F Fatehi, AA Okhovat, Y Nilipour, M Mroczek, V Straub, A Töpf, A Palibrk, ... European journal of neurology 27 (11), 2257-2266, 2020 | 7 | 2020 |
| Cerebrospinal fluid proteome alterations associated with neuropsychiatric symptoms in cognitive decline and Alzheimer’s disease M Mroczek, C Clark, L Dayon, GL Bowman, J Popp Cells 11 (6), 1030, 2022 | 6 | 2022 |
| Neuromuscular and neuromuscular junction manifestations of the PURA-NDD: a systematic review of the reported symptoms and potential treatment options M Mroczek, S Iyadurai International Journal of Molecular Sciences 24 (3), 2260, 2023 | 4 | 2023 |
| Better safe than sorry—Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19 D Słomian, J Szyda, P Dobosz, J Stojak, A Michalska-Foryszewska, ... PLoS One 18 (1), e0279356, 2023 | 4 | 2023 |
| Beyond GWAS—Could Genetic Differentiation within the Allograft Rejection Pathway Shape Natural Immunity to COVID-19? J Szyda, P Dobosz, J Stojak, M Sypniewski, T Suchocki, K Kotlarz, ... International Journal of Molecular Sciences 23 (11), 6272, 2022 | 4 | 2022 |
| Neuropsychiatric symptoms and their association with sex, age, and enzyme replacement therapy in Fabry disease: a systematic review M Mroczek, I Maniscalco, M Sendel, R Baron, E Seifritz, A Nowak Frontiers in psychiatry 13, 829128, 2022 | 4 | 2022 |
