Lenka Piherova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 20 publications

The Evolving Role of Genomic Technologies in Multiple Myeloma: Implications for Diagnosis, Risk Stratification and Resistance.

The Evolving Role of Genomic Technologies in Multiple Myeloma: Implications for Diagnosis, Risk Stratification and Resistance.

Journal: Molecular diagnosis & therapy

Published: October 22, 2025

A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis.

A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis.

Journal: Kidney international

Published: July 24, 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

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

Journal: ESC heart failure

Published: October 23, 2023

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022.

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022.

Journal: Scientific reports

Published: October 05, 2022

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.

Journal: Genes

Published: December 17, 2020

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Journal: The Journal of clinical investigation

Published: July 09, 2020

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.

Journal: Journal of clinical medicine

Published: February 13, 2020

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.

Journal: ESC heart failure

Published: January 30, 2020

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

Journal: Acta ophthalmologica

Published: December 22, 2019

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

Journal: American journal of medical genetics. Part A

Published: August 02, 2019

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Last Updated: 09/26/2026