Alena Vrbacka

Prague, PR 12821, Czech Republic

Last Updated: 09/26/2026

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Found 16 publications

Amyotrophic Lateral Sclerosis: The State of the Art on Treatments and the Therapeutic Role of the Intestinal Microbiome in Human Studies.

Amyotrophic Lateral Sclerosis: The State of the Art on Treatments and the Therapeutic Role of the Intestinal Microbiome in Human Studies.

Journal: International journal of molecular sciences

Published: December 29, 2025

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.

Journal: bioRxiv : the preprint server for biology

Published: September 26, 2025

Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 27, 2025

Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 27, 2025

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Journal: Human mutation

Published: August 05, 2025

Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease.

Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease.

Journal: Kidney360

Published: May 22, 2025

Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Journal: PloS one

Published: January 30, 2025

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study.

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.

Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.

Journal: BMC nephrology

Published: July 10, 2024

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

Journal: Kidney international reports

Published: January 12, 2024

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

Journal: Kidney international

Published: April 13, 2023

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Journal: PloS one

Published: March 10, 2023

Showing 1-12 of 16

Last Updated: 09/26/2026