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Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F, Okhovat AA, Nilipour Y, Mroczek M, Straub V, Töpf A, Palibrk A, Peric S, Rakocevic Stojanovic V, Najmabadi H, Nafissi S. Fatehi F, et al. Among authors: mroczek m. Eur J Neurol. 2020 Nov;27(11):2257-2266. doi: 10.1111/ene.14402. Epub 2020 Jul 24. Eur J Neurol. 2020. PMID: 32558070 Free PMC article.
Gene Variants Related to Cardiovascular and Pulmonary Diseases May Correlate with Severe Outcome of COVID-19.
Sypniewski M, Król ZJ, Szyda J, Kaja E, Mroczek M, Suchocki T, Lejman A, Stępień M, Topolski P, Dąbrowski M, Kotlarz K, Aplas A, Wasiak M, Wojtaszewska M, Zawadzki P, Pawlak A, Gil R, Dobosz P, Stojak J. Sypniewski M, et al. Among authors: mroczek m. Int J Mol Sci. 2022 Aug 4;23(15):8696. doi: 10.3390/ijms23158696. Int J Mol Sci. 2022. PMID: 35955824 Free PMC article.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Among authors: mroczek m. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
46 results