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miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.
Scheper M, Romagnolo A, Besharat ZM, Iyer AM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Petrak B, Maulisova A, Nabbout R, Jansen AC, Jansen FE, Lagae L, Urbanska M, Ferretti E, Tempes A, Blazejczyk M, Jaworski J, Kwiatkowski DJ, Jozwiak S, Kotulska K, Sadowski K, Borkowska J, Curatolo P, Mills JD, Aronica E, Epistop Consortium Members. Scheper M, et al. Among authors: petrak b. Biomedicines. 2022 Jul 29;10(8):1838. doi: 10.3390/biomedicines10081838. Biomedicines. 2022. PMID: 36009385 Free PMC article.
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.
Huschner F, Głowacka-Walas J, Mills JD, Klonowska K, Lasseter K, Asara JM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Petrák B, van Scheppingen J, Zamecnik J, Iyer A, Anink JJ, Mühlebner A, Mijnsbergen C, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Blazejczyk M, Jansen FE, Janson S, Urbanska M, Tempes A, Janssen B, Sijko K, Wojdan K, Jozwiak S, Kotulska K, Lehmann K, Aronica E, Jaworski J, Kwiatkowski DJ. Huschner F, et al. Among authors: petrak b. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 Free PMC article.
EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
Fogarasi A, De Waele L, Bartalini G, Jozwiak S, Laforgia N, Verhelst H, Petrak B, Pedespan JM, Witt O, Castellana R, Crippa S, Gislimberti G, Gyorsok Z. Fogarasi A, et al. Among authors: petrak b. BMC Neurol. 2016 Aug 8;16:126. doi: 10.1186/s12883-016-0658-4. BMC Neurol. 2016. PMID: 27502586 Free PMC article. Clinical Trial.
The importance of advanced parental age in the origin of neurofibromatosis type 1.
Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M. Snajderova M, et al. Among authors: petrak b. Am J Med Genet A. 2012 Mar;158A(3):519-23. doi: 10.1002/ajmg.a.34413. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302476
Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.
Schwabova J, Brozkova DS, Petrak B, Mojzisova M, Pavlickova K, Haberlova J, Mrazkova L, Hedvicakova P, Hornofova L, Kaluzova M, Fencl F, Krutova M, Zamecnik J, Seeman P. Schwabova J, et al. Among authors: petrak b. J Neurogenet. 2013 Dec;27(4):163-9. doi: 10.3109/01677063.2013.814651. Epub 2013 Jul 25. J Neurogenet. 2013. PMID: 23883322
25 results