Kmoch S - Search Results

1

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022.

Musalkova D, Piherova L, Kwasny O, Dindova Z, Stancik L, Hartmannova H, Slama O, Peckova P, Pargac J, Minarik G, Zima T, Bleyer AJ, Radina M, Pohludka M, Kmoch S. Musalkova D, et al. Among authors: kmoch s. Sci Rep. 2023 Apr 15;13(1):6156. doi: 10.1038/s41598-023-32953-2. Sci Rep. 2023. PMID: 37061534 Free PMC article.

2

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: kmoch s. Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13. Neurology. 2016. PMID: 27412140 Free PMC article.

3

[Autopsy and biopsy findings in disorders of mitochondrial beta-oxidation of fatty acids. Role of the pathologist in the diagnostic process].

Elleder M, Kmoch S, Hejtmánková M, Bouska I. Elleder M, et al. Among authors: kmoch s. Cesk Patol. 1999 Jul;35(3):98-105. Cesk Patol. 1999. PMID: 11038665 Czech.

4

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.

Mouchegh K, Zikánová M, Hoffmann GF, Kretzschmar B, Kühn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvoráková L, Honzík T, Zeman J, Kmoch S, Rossi R. Mouchegh K, et al. Among authors: kmoch s. J Pediatr. 2007 Jan;150(1):57-61.e2. doi: 10.1016/j.jpeds.2006.09.027. J Pediatr. 2007. PMID: 17188615

5

[Diagnostic aspects of familial juvenile hyperuriceamic nephropathy].

Stibůrková B, Sebesta I, Kmoch S. Stibůrková B, et al. Among authors: kmoch s. Cas Lek Cesk. 2005;144(7):466-71. Cas Lek Cesk. 2005. PMID: 16161539 Czech.

6

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.

Vliet LK, Wilkinson TG 2nd, Duval N, Vacano G, Graham C, Zikánová M, Skopova V, Baresova V, Hnízda A, Kmoch S, Patterson D. Vliet LK, et al. Among authors: kmoch s. Mol Genet Metab. 2011 Jan;102(1):61-8. doi: 10.1016/j.ymgme.2010.08.022. Epub 2010 Sep 6. Mol Genet Metab. 2011. PMID: 20884265 Free PMC article.

7

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.

Hodanová K, Majewski J, Kublová M, Vyletal P, Kalbácová M, Stibůrková B, Hůlková H, Chagnon YC, Lanouette CM, Marinaki A, Fryns JP, Venkat-Raman G, Kmoch S. Hodanová K, et al. Among authors: kmoch s. Kidney Int. 2005 Oct;68(4):1472-82. doi: 10.1111/j.1523-1755.2005.00560.x. Kidney Int. 2005. PMID: 16164624 Free article.

8

Adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A. Jurecka A, et al. Among authors: kmoch s. J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112391 Free PMC article. Review.

9

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.

Corydon MJ, Gregersen N, Lehnert W, Ribes A, Rinaldo P, Kmoch S, Christensen E, Kristensen TJ, Andresen BS, Bross P, Winter V, Martinez G, Neve S, Jensen TG, Bolund L, Kølvraa S. Corydon MJ, et al. Among authors: kmoch s. Pediatr Res. 1996 Jun;39(6):1059-66. doi: 10.1203/00006450-199606000-00021. Pediatr Res. 1996. PMID: 8725270

10

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: kmoch s. 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.

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