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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: zamecnik j. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 Free PMC article.
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B, Splitkova B, Vlckova M, Tesner P, Rezacova H, Krskova L, Koblizek M, Kyncl M, Maulisova A, Bukacova K, Uhrova-Meszarosova A, Musilova A, Kudr M, Ebel M, Belohlavkova A, Jahodova A, Liby P, Tichy M, Jezdik P, Zamecnik J, Aronica E, Krsek P. Straka B, et al. Among authors: zamecnik j. Eur J Paediatr Neurol. 2023 Nov;47:80-87. doi: 10.1016/j.ejpn.2023.09.009. Epub 2023 Oct 5. Eur J Paediatr Neurol. 2023. PMID: 37812946
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B, Hermanovska B, Krskova L, Zamecnik J, Vlckova M, Balascakova M, Tesner P, Jezdik P, Tichy M, Kyncl M, Musilova A, Lassuthova P, Marusic P, Krsek P. Straka B, et al. Among authors: zamecnik j. Neurol Genet. 2022 Sep 27;8(5):e200032. doi: 10.1212/NXG.0000000000200032. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36324633 Free PMC article.
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.
Straka B, Koblížek M, Splítková B, Valkovičová R, Krsková L, Kalinová M, Vlčková M, Zámečník J, Laššuthová P, Sedláčková L, Staněk D, Maulisová A, Tichý M, Kynčl M, Kršek P. Straka B, et al. Among authors: zamecnik j. Epilepsia Open. 2024 Feb;9(1):424-431. doi: 10.1002/epi4.12863. Epub 2023 Dec 14. Epilepsia Open. 2024. PMID: 37943122 Free PMC article.
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. Barba C, et al. Neurology. 2023 Jan 31;100(5):e528-e542. doi: 10.1212/WNL.0000000000201471. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307217 Free PMC article.
Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas.
Misove A, Vicha A, Broz P, Vanova K, Sumerauer D, Stolova L, Sramkova L, Koblizek M, Zamecnik J, Kyncl M, Holubova Z, Liby P, Taborsky J, Benes V 3rd, Pernikova I, Jones DTW, Sill M, Stancokova T, Krskova L, Zapotocky M. Misove A, et al. Among authors: zamecnik j. Acta Neuropathol Commun. 2022 Sep 26;10(1):143. doi: 10.1186/s40478-022-01446-0. Acta Neuropathol Commun. 2022. PMID: 36163281 Free PMC article.
Correction to: Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas.
Misove A, Vicha A, Broz P, Vanova K, Sumerauer D, Stolova L, Sramkova L, Koblizek M, Zamecnik J, Kyncl M, Holubova Z, Liby P, Taborsky J, Benes V 3rd, Pernikova I, Jones DTW, Sill M, Stancokova T, Krskova L, Zapotocky M. Misove A, et al. Among authors: zamecnik j. Acta Neuropathol Commun. 2022 Nov 11;10(1):162. doi: 10.1186/s40478-022-01467-9. Acta Neuropathol Commun. 2022. PMID: 36369165 Free PMC article. No abstract available.
A progressive KY myopathy could be caused by a missense pathogenic variant.
Uhrova-Meszarosova A, Vlckova M, Rennerova L, Haberlova J, Zamecnik J, Seeman P, Safka-Brozkova D. Uhrova-Meszarosova A, et al. Among authors: zamecnik j. Clin Genet. 2023 Jun;103(6):723-725. doi: 10.1111/cge.14302. Epub 2023 Jan 28. Clin Genet. 2023. PMID: 36683559 No abstract available.
Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.
Keck MK, Sill M, Wittmann A, Joshi P, Stichel D, Beck P, Okonechnikow K, Sievers P, Wefers AK, Roncaroli F, Avula S, McCabe MG, Hayden JT, Wesseling P, Øra I, Nistér M, Kranendonk MEG, Tops BBJ, Zapotocky M, Zamecnik J, Vasiljevic A, Fenouil T, Meyronet D, von Hoff K, Schüller U, Loiseau H, Figarella-Branger D, Kramm CM, Sturm D, Scheie D, Rauramaa T, Pesola J, Gojo J, Haberler C, Brandner S, Jacques T, Sexton Oates A, Saffery R, Koscielniak E, Baker SJ, Yip S, Snuderl M, Ud Din N, Samuel D, Schramm K, Blattner-Johnson M, Selt F, Ecker J, Milde T, von Deimling A, Korshunov A, Perry A, Pfister SM, Sahm F, Solomon DA, Jones DTW. Keck MK, et al. Among authors: zamecnik j. Acta Neuropathol. 2023 Jan;145(1):49-69. doi: 10.1007/s00401-022-02516-2. Epub 2022 Nov 27. Acta Neuropathol. 2023. PMID: 36437415 Free PMC article.
268 results