Daniela Gasperikova

Bratislava, BL, Slovakia

Last Updated: 09/26/2026

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Found 65 publications

Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report.

Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report.

Journal: Endocrine regulations

Published: July 06, 2026

GPR180 deficiency impairs mitochondrial function and insulin secretion in pancreatic β-cells.

GPR180 deficiency impairs mitochondrial function and insulin secretion in pancreatic β-cells.

Journal: Molecular metabolism

Published: April 29, 2026

Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.

Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.

Journal: Ear and hearing

Published: February 10, 2026

T1D GRS: A Tool for Identifying Children and Adolescents with Monogenic Diabetes.

T1D GRS: A Tool for Identifying Children and Adolescents with Monogenic Diabetes.

Journal: Hormone research in paediatrics

Published: October 06, 2025

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant.

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant.

Journal: Clinical epigenetics

Published: August 15, 2025

Nationwide Epidemiology and Genetic Background of Persistent Nonsyndromic Congenital Hyperinsulinism in Slovakia.

Nationwide Epidemiology and Genetic Background of Persistent Nonsyndromic Congenital Hyperinsulinism in Slovakia.

Journal: Hormone research in paediatrics

Published: July 25, 2025

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Journal: Molecular medicine (Cambridge, Mass.)

Published: March 26, 2025

Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer.

Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer.

Journal: Biochimica et biophysica acta. Molecular cell research

Published: November 28, 2024

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.

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.

Journal: Genes

Published: November 12, 2023

An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.

An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.

Journal: Diabetic medicine : a journal of the British Diabetic Association

Published: July 17, 2023

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

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

Journal: Neurology. Genetics

Published: May 25, 2023

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

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

Journal: Orphanet journal of rare diseases

Published: December 02, 2022

Showing 1-12 of 65

Last Updated: 09/26/2026