KNIŽNÉ PUBLIKÁCIE
(súčasní a bývalí členovia tímu sú uvedení tučným písmom)
Rambani V, Hromnikova D, Gasperikova D, Skopkova M.: Mitochondria and mitochondrial disorders: an overview update. Endocr Regul. 2022 Jul 13;56(3):232-248. doi: 10.2478/enr-2022-0025. PMID: 35843711 Free article.
Tijardović M, Štambuk T, Juszczak A, Keser T, Gasperikova D, Novokmet M, Tjora E, Pape Medvidović E, Stanik J, Rasmus Njølstad P, Lauc G, Owen KR, Gornik O.: Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young. Diabetes Res Clin Pract. 2022 Mar;185:109226. doi: 10.1016/j.diabres.2022.109226. Epub 2022 Feb 2.PMID: 35122907 Free article.
Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, Gašperíková D.: Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. BMC Pediatr. 2021 Dec 16;21(1):578. doi: 10.1186/s12887-021-03067-3.PMID: 34915869 Free PMC article.
Pavlenkova Z, Varga L, Borecka S, Karhanek M, Huckova M, Skopkova M, Profant M, Gasperikova D. Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. Sci Rep. 2021 Nov 18;11(1):22488. doi: 10.1038/s41598-021-01876-1. PMID: 34795337 Free PMC article.
Safka Brozkova D, Uhrova Meszarosova A, Lassuthova P, Varga L, Staněk D, Borecká S, Laštůvková J, Čejnová V, Rašková D, Lhota F, Gašperíková D, Seeman P. The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.Genes (Basel). 2021 May 1;12(5):684. doi: 10.3390/genes12050684. PMID: 34062854 Free PMC article.
Varga L, Danis D, Drsata J, Masindova I, Skopkova M, Slobodova Z, Chrobok V, Profant M, Gasperikova D. Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome. Int J Pediatr Otorhinolaryngol. 2021 Jan;140:110499. doi: 10.1016/j.ijporl.2020.110499. Epub 2020 Nov 13. PMID: 33234331
Bowman P, Mathews F, Barbetti F, Shepherd MH, Sanchez J, Piccini B, Beltrand J, Letourneau-Freiberg LR, Polak M, Greeley SAW, Rawlins E, Babiker T, Thomas NJ, De Franco E, Ellard S, Flanagan SE, Hattersley AT; Neonatal Diabetes International Collaborative Group (including Gasperikova D and Stanik J). Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes. Diabetes Care. 2021 Jan;44(1):35-42. doi: 10.2337/dc20-1520. Epub 2020 Nov 12. PMID: 33184150 Free PMC article.
Hulín J, Škopková M, Valkovičová T, Mikulajová S, Rosoľanková M, Papcun P, Gašperíková D, Staník J. Clinical implications of the glucokinase impaired function – GCK MODY today. Physiol Res. 2020 Dec 22;69(6):995-1011. doi: 10.33549/physiolres.934487. Epub 2020 Nov 2. PMID: 33129248 Free PMC article. Review.
Stanik J, Barak L, Dankovcikova A, Valkovicova T, Skopkova M, Gasperikova D. Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants. Endocr Regul. 2020 Nov 24;54(4):260-265. doi: 10.2478/enr-2020-0029. PMID: 33885251 Free article.
Trochanová I, Staníková D, Škopková M, Haštová K, Gašperíková D, Staník J, Čižnár P. Immunologic phenotype of a child with the MEHMO syndrome. Physiol Res. 2020 Nov 16;69(5):927-932. doi: 10.33549/physiolres.934498. Epub 2020 Sep 9. PMID: 32901502 Free PMC article.
Stanik J, Barak L, Dankovcikova A, Valkovicova T, Skopkova M, Gasperikova D. Diabetes treatment in two pregnant women with permanent neonatal diabetes mellitus due to a KCNJ11 mutation. Diabet Med. 2020 Nov;37(11):1956-1958. doi: 10.1111/dme.14363. Epub 2020 Jul 20. PMID: 32634858
Safka Brozkova D, Varga L, Uhrova Meszarosova A, Slobodova Z, Skopkova M, Soltysova A, Ficek A, Jencik J, Lastuvkova J, Gasperikova D, Seeman P. Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant. Orphanet J Rare Dis. 2020 Aug 26;15(1):222. doi: 10.1186/s13023-020-01508-3. PMID: 32847582 Free PMC article.
Varga L, Danis D, Skopkova M, Masindova I, Slobodova Z, Demesova L, Profant M, Gasperikova D. Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report. BMC Med Genet. 2019 May 17;20(1):84. doi: 10.1186/s12881-019-0806-y. PMID: 31101089 Free PMC article.
Valkovicova T, Skopkova M, Stanik J, Gasperikova D. Novel insights into genetics and clinics of the HNF1A-MODY. Endocr Regul. 2019 Apr 1;53(2):110-134. doi: 10.2478/enr-2019-0013. PMID: 31517624 Free article. Review.
Kolnikova M, Jungova P, Skopkova M, Foltan T, Gasperikova D, Mattosova S, Chandoga J. Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. J Mol Neurosci. 2019 Apr;67(4):559-563. doi: 10.1007/s12031-019-1259-7. Epub 2019 Jan 11. PMID: 30632081
Varga L, Jovankovicova A, Huckova M, Demesova L, Gasperikova D, Sebova I, Profant M. Hereditary bilateral sudden sensorineural hearing loss. Bratisl Lek Listy. 2019;120(9):699-702. doi: 10.4149/BLL_2019_118. PMID: 31475558
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group (including Gasperikova D and Stanik J). Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. PMID: 29880308 Free PMC article.
Stanik J, Skopkova M, Stanikova D, Brennerova K, Barak L, Ticha L, Hornova J, Klimes I, Gasperikova D. Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. Physiol Res. 2018 May 4;67(2):331-337. doi: 10.33549/physiolres.933689. Epub 2018 Jan 5. PMID: 29303605 Free article.
Danis D, Brennerova K, Skopkova M, Kurdiova T, Ukropec J, Stanik J, Kolnikova M, Gasperikova D. Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients. Endocr Regul. 2018 Apr 1;52(2):110-118. doi: 10.2478/enr-2018-0013. PMID: 29715184 Free article.