Daniela Gašperíková

Daniela Gašperíková

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Daniela Gašperíková

Daniela Gašperíková

Publications by authors named "Daniela Gašperíková"

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45Publications

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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.

BMC Med Genet 2019 05 17;20(1):84. Epub 2019 May 17.

Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0806-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525401PMC
May 2019

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.

J Mol Neurosci 2019 Apr 11;67(4):559-563. Epub 2019 Jan 11.

Department of Molecular and Biochemical Genetics - Centre of Rare Genetic Diseases, Comenius University Faculty of Medicine & University Hospital Bratislava, Bratislava, Slovakia.

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http://link.springer.com/10.1007/s12031-019-1259-7
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http://dx.doi.org/10.1007/s12031-019-1259-7DOI Listing
April 2019

Novel insights into genetics and clinics of the HNF1A-MODY.

Endocr Regul 2019 Apr;53(2):110-134

Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.

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http://www.degruyter.com/view/j/enr.2019.53.issue-2/enr-2019
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http://dx.doi.org/10.2478/enr-2019-0013DOI Listing
April 2019

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

Endocr Regul 2018 Apr;52(2):110-118

Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.

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http://dx.doi.org/10.2478/enr-2018-0013DOI Listing
April 2018

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

Seizure 2018 03 3;56:31-33. Epub 2018 Feb 3.

Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2018.01.020DOI Listing
March 2018

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

Diabetes Res Clin Pract 2017 Apr 16;126:144-150. Epub 2017 Feb 16.

DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Dubravska cesta 9, 845 05 Bratislava, Slovakia. Electronic address:

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http://dx.doi.org/10.1016/j.diabres.2017.02.014DOI Listing
April 2017

Genetic testing of familial hypercholesterolemia in a real clinical setting.

Wien Klin Wochenschr 2016 Dec 19;128(23-24):916-921. Epub 2016 Aug 19.

Co-ordination Center for Familial Hyperlipidemias, Slovak Medical University in Bratislava, Limbova 12, 833 03, Bratislava, Slovakia.

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http://dx.doi.org/10.1007/s00508-016-1053-2DOI Listing
December 2016

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

Eur J Med Genet 2016 Sep 12;59(9):429-35. Epub 2016 Aug 12.

Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.08.005DOI Listing
September 2016

Muscle Carnosine Is Associated with Cardiometabolic Risk Factors in Humans.

PLoS One 2015 6;10(10):e0138707. Epub 2015 Oct 6.

Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia; Faculty of Medicine, Comenius University, Bratislava, Slovakia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138707PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4595442PMC
June 2016

Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation?

Acta Otolaryngol 2014 Jun 11;134(6):571-8. Epub 2014 Apr 11.

1st Otorhinolaryngology Clinic, Faculty of Medicine and University Hospital, Comenius University , Bratislava.

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http://dx.doi.org/10.3109/00016489.2014.894253DOI Listing
June 2014

Transcriptional regulation of adipocyte formation by the liver receptor homologue 1 (Lrh1)-Small hetero-dimerization partner (Shp) network.

Mol Metab 2013 16;2(3):314-23. Epub 2013 Mar 16.

Swiss Federal Institute of Technology, ETH Zürich, Competence Centre for Systems Physiology (CC-SPMD), Institute of Food Nutrition and Health, Schorenstrasse 16, 8603 Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1016/j.molmet.2013.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773829PMC
September 2013

Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity.

Eur J Hum Genet 2011 Sep 11;19(9):995-1001. Epub 2011 May 11.

Department of Eco & Evo Biol, Interdepartmental Program in Bioinformatics, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/ejhg.2011.65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179365PMC
September 2011

Increased adipose tissue expression of proinflammatory CD40, MKK4 and JNK in patients with very severe chronic obstructive pulmonary disease.

Respiration 2011 12;81(5):386-93. Epub 2010 Aug 12.

Department of Respiratory Medicine, Faculty of Medicine, P.J. Safarik University and L. Pasteur Teaching Hospital, Kosice, Slovakia.

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http://dx.doi.org/10.1159/000319957DOI Listing
August 2011

Metabolic phenotype and adipose tissue inflammation in patients with chronic obstructive pulmonary disease.

Mediators Inflamm 2010 21;2010:173498. Epub 2010 Dec 21.

Department of Respiratory Medicine, Faculty of Medicine, P.J. Safarik University and L. Pasteur Teaching Hospital, 04001 Kosice, Slovakia.

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http://dx.doi.org/10.1155/2010/173498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3010654PMC
April 2011

Medium-chain fatty acids ameliorate insulin resistance caused by high-fat diets in rats.

Diabetes Metab Res Rev 2009 Feb;25(2):185-94

Diabetes and Nutrition Research Laboratory, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovak Republic.

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http://dx.doi.org/10.1002/dmrr.925DOI Listing
February 2009

Adipose tissue and skeletal muscle plasticity modulates metabolic health.

Arch Physiol Biochem 2008 Dec;114(5):357-68

Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovak Republic.

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http://dx.doi.org/10.1080/13813450802535812DOI Listing
December 2008

Adipokine protein expression pattern in growth hormone deficiency predisposes to the increased fat cell size and the whole body metabolic derangements.

J Clin Endocrinol Metab 2008 Jun 11;93(6):2255-62. Epub 2008 Mar 11.

Diabetes Laboratory, Institute of Experimental Endocrinology, Centre of Excellence acknowledged by European Commission, Slovak Academy of Sciences, Vlárska 3, Bratislava, Slovak Republic.

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http://dx.doi.org/10.1210/jc.2007-2188DOI Listing
June 2008

Protein array reveals differentially expressed proteins in subcutaneous adipose tissue in obesity.

Obesity (Silver Spring) 2007 Oct;15(10):2396-406

Institute of Experimental Endocrinology, EU Centre of Excellence, Slovak Academy of Sciences, Vlárska 3, SK-83306 Bratislava, Slovak Republic.

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http://dx.doi.org/10.1038/oby.2007.285DOI Listing
October 2007

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

J Clin Endocrinol Metab 2007 Apr 9;92(4):1276-82. Epub 2007 Jan 9.

DIABGENE and Diabetes Research Laboratory, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Vlarska 3, SK 833 06 Bratislava, Slovak Republic.

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http://dx.doi.org/10.1210/jc.2006-2490DOI Listing
April 2007

Fatty acid regulation of gene expression: a genomic explanation for the benefits of the mediterranean diet.

Ann N Y Acad Sci 2002 Jun;967:283-98

Institute for Cellular and Molecular Biology and Division of Nutritional Sciences, University of Texas, Austin 78712, USA.

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June 2002