Kolnikova M - Search Results

1

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.

Danis D, Brennerova K, Skopkova M, Kurdiova T, Ukropec J, Stanik J, Kolnikova M, Gasperikova D. Danis D, et al. Among authors: kolnikova m. Endocr Regul. 2018 Apr 1;52(2):110-118. doi: 10.2478/enr-2018-0013. Endocr Regul. 2018. PMID: 29715184 Free article.

2

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. Skopkova M, et al. Among authors: kolnikova m. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23. Hum Mutat. 2017. PMID: 28055140 Free PMC article.

3

DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.

Kolnikova M, Skopkova M, Ilencikova D, Foltan T, Payerova J, Danis D, Klimes I, Stanik J, Gasperikova D. Kolnikova M, et al. Seizure. 2018 Mar;56:31-33. doi: 10.1016/j.seizure.2018.01.020. Epub 2018 Feb 3. Seizure. 2018. PMID: 29427836 Free article. No abstract available.

4

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. 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

5

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Kluckova D, Kolnikova M, Medova V, Bognar C, Foltan T, Svecova L, Gnip A, Kadasi L, Soltysova A, Ficek A. Kluckova D, et al. Among authors: kolnikova m. Epilepsy Res. 2021 Oct;176:106699. doi: 10.1016/j.eplepsyres.2021.106699. Epub 2021 Jun 23. Epilepsy Res. 2021. PMID: 34229227

6

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Skopkova M, Stufkova H, Rambani V, Stranecky V, Brennerova K, Kolnikova M, Pietrzykova M, Karhanek M, Noskova L, Tesarova M, Hansikova H, Gasperikova D. Skopkova M, et al. Among authors: kolnikova m. Orphanet J Rare Dis. 2023 Apr 24;18(1):92. doi: 10.1186/s13023-023-02689-3. Orphanet J Rare Dis. 2023. PMID: 37095554 Free PMC article.

7

Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.

Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S, Weis D. Kušíková K, et al. Among authors: kolnikova m. Genes (Basel). 2023 Dec 3;14(12):2174. doi: 10.3390/genes14122174. Genes (Basel). 2023. PMID: 38136996 Free PMC article.

8

PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology.

Rambani V, Kolnikova M, Cagalinec M, Skopkova M, Gasperikova D. Rambani V, et al. Among authors: kolnikova m. Neurol Genet. 2023 Nov 14;9(6):e200106. doi: 10.1212/NXG.0000000000200106. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235041 Free PMC article.

9

A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.

Kluckova D, Kolnikova M, Lacinova L, Jurkovicova-Tarabova B, Foltan T, Demko V, Kadasi L, Ficek A, Soltysova A. Kluckova D, et al. Among authors: kolnikova m. Sci Rep. 2020 Jun 24;10(1):10288. doi: 10.1038/s41598-020-67215-y. Sci Rep. 2020. PMID: 32581296 Free PMC article.

10

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. Among authors: kolnikova m. Neuro Endocrinol Lett. 2014;35(5):411-6. Neuro Endocrinol Lett. 2014. PMID: 25275259

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