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Page 1
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.
Jedlickova I, Pristoupilova A, Hulkova H, Vrbacka A, Stranecky V, Hruba E, Jesina P, Honzik T, Hrdlicka I, Fremuth J, Pivovarcikova K, Bitar I, Matej R, Kmoch S, Sikora J. Jedlickova I, et al. Among authors: pristoupilova a. J Neuropathol Exp Neurol. 2020 Oct 1;79(10):1065-1071. doi: 10.1093/jnen/nlaa070. J Neuropathol Exp Neurol. 2020. PMID: 32827029
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium. Berkovic SF, et al. Among authors: pristoupilova a. Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13. Neurology. 2016. PMID: 27412140 Free PMC article.
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S. Hartmannová H, et al. Among authors: pristoupilova a. Hum Mol Genet. 2016 Sep 15;25(18):4062-4079. doi: 10.1093/hmg/ddw245. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466185
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Mazurova S, Magner M, Kucerova-Vidrova V, Vondrackova A, Stranecky V, Pristoupilova A, Zamecnik J, Hansikova H, Zeman J, Tesarova M, Honzik T. Mazurova S, et al. Among authors: pristoupilova a. Cardiol Young. 2017 Jul;27(5):936-944. doi: 10.1017/S1047951116001876. Epub 2016 Nov 14. Cardiol Young. 2017. PMID: 27839525 Review.
Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.
Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA. Gstrein T, et al. Among authors: pristoupilova a. Nat Neurosci. 2018 Feb;21(2):207-217. doi: 10.1038/s41593-017-0053-5. Epub 2018 Jan 8. Nat Neurosci. 2018. PMID: 29311744 Free PMC article.
Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.
Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA. Gstrein T, et al. Among authors: pristoupilova a. Nat Neurosci. 2018 Aug;21(8):1139. doi: 10.1038/s41593-018-0170-9. Nat Neurosci. 2018. PMID: 29875394
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.
Jedličková I, Přistoupilová A, Nosková L, Majer F, Stránecký V, Hartmannová H, Hodaňová K, Trešlová H, Hýblová M, Solár P, Minárik G, Giertlová M, Kmoch S. Jedličková I, et al. Among authors: pristoupilova a. Mol Genet Genomic Med. 2020 Jul;8(7):e1238. doi: 10.1002/mgg3.1238. Epub 2020 Apr 26. Mol Genet Genomic Med. 2020. PMID: 32337852 Free PMC article.
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedličková I, Cadieux-Dion M, Přistoupilová A, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Hůlková H, Sikora J, Nosková L, Mušálková D, Vyleťal P, Sovová J, Cossette P, Andermann E, Andermann F, Kmoch S; Adult NCL Gene Discovery Consortium. Jedličková I, et al. Among authors: pristoupilova a. Eur J Hum Genet. 2020 Jun;28(6):783-789. doi: 10.1038/s41431-019-0567-2. Epub 2020 Jan 9. Eur J Hum Genet. 2020. PMID: 31919451 Free PMC article.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL. Bolar NA, et al. Among authors: pristoupilova a. Am J Hum Genet. 2016 Jul 7;99(1):174-87. doi: 10.1016/j.ajhg.2016.05.028. Am J Hum Genet. 2016. PMID: 27392076 Free PMC article.
28 results