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274 results

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Page 1
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.
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.
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.
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.
Primary cardiac lipoblastoma of the right atrium.
Koblizek M, Golas W, Krskova L, Kovanda J, Bukovsky P, Zamecnik J. Koblizek M, et al. Among authors: zamecnik j. Cardiovasc Pathol. 2023 Jul-Aug;65:107542. doi: 10.1016/j.carpath.2023.107542. Epub 2023 Apr 29. Cardiovasc Pathol. 2023. PMID: 37127061 Free 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
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 and molecular study of radiation-induced gliomas.
Trkova K, Sumerauer D, Bubenikova A, Krskova L, Vicha A, Koblizek M, Zamecnik J, Jurasek B, Kyncl M, Malinova B, Ondrova B, Jones DTW, Sill M, Strnadova M, Stolova L, Misove A, Benes V 3rd, Zapotocky M. Trkova K, et al. Among authors: zamecnik j. Sci Rep. 2024 Feb 7;14(1):3118. doi: 10.1038/s41598-024-53434-0. Sci Rep. 2024. PMID: 38326438 Free PMC article.
274 results