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Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
Sutovský S, Petrovic R, Chandoga J, Turcáni P. Sutovský S, et al. J Neurol Sci. 2007 Dec 15;263(1-2):149-53. doi: 10.1016/j.jns.2007.01.082. Epub 2007 Jul 26. J Neurol Sci. 2007. PMID: 17662307
Differing clinical presentations of two unrelated cases of X-linked adrenoleukodystrophy with identical mutation Y296C in the ABCD1 gene.
Sutovský S, Kolníková M, Petrovic R, Kollár B, Siarnik P, Chandoga J, Fischerová M, Turcáni P. Sutovský S, et al. Neuro Endocrinol Lett. 2014;35(5):411-6. Neuro Endocrinol Lett. 2014. PMID: 25275259
A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.
Konkoľová J, Petrovič R, Chandoga J, Halasová E, Jungová P, Böhmer D. Konkoľová J, et al. Mol Biol Rep. 2015 Sep;42(9):1359-63. doi: 10.1007/s11033-015-3885-7. Epub 2015 Jun 21. Mol Biol Rep. 2015. PMID: 26094004
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
Konkoľová J, Petrovič R, Chandoga J, Repiský M, Zelinková H, Kršiaková J, Kolníková M, Kantarská D, Šutovský S, Böhmer D. Konkoľová J, et al. Gene. 2015 Aug 15;568(1):61-8. doi: 10.1016/j.gene.2015.05.020. Epub 2015 May 9. Gene. 2015. PMID: 25967389
Adrenoleukodystrophy--a new mutation identified.
Vachalova I, Chandoga J, Petrovic R, Copikova-Cudrakova D, Sykora M, Traubner P. Vachalova I, et al. Bratisl Lek Listy. 2007;108(10-11):462-6. Bratisl Lek Listy. 2007. PMID: 18306728
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Lisyová J, Chandoga J, Jungová P, Repiský M, Knapková M, Machková M, Dluholucký S, Behúlová D, Šaligová J, Potočňáková Ľ, Lysinová M, Böhmer D. Lisyová J, et al. Among authors: chandoga j. BMC Med Genet. 2018 Apr 20;19(1):64. doi: 10.1186/s12881-018-0566-0. BMC Med Genet. 2018. PMID: 29678161 Free PMC article.
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.
Konkoľová J, Chandoga J, Kováčik J, Repiský M, Kramarová V, Paučinová I, Böhmer D. Konkoľová J, et al. Among authors: chandoga j. BMC Med Genet. 2017 May 31;18(1):59. doi: 10.1186/s12881-017-0421-8. BMC Med Genet. 2017. PMID: 28569194 Free PMC article.
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
Kolnikova M, Jungova P, Skopkova M, Foltan T, Gasperikova D, Mattosova S, Chandoga J. Kolnikova M, et al. Among authors: chandoga j. J Mol Neurosci. 2019 Apr;67(4):559-563. doi: 10.1007/s12031-019-1259-7. Epub 2019 Jan 11. J Mol Neurosci. 2019. PMID: 30632081
Phelan-McDermid syndrome in adult patient with atypical bipolar psychosis repeatedly triggered by febrility.
Jungová P, Čumová A, Kramarová V, Lisyová J, Ďurina P, Chandoga J, Bӧhmer D. Jungová P, et al. Among authors: chandoga j. Neurocase. 2018 Aug;24(4):227-230. doi: 10.1080/13554794.2018.1542007. Epub 2018 Oct 30. Neurocase. 2018. PMID: 30376408
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