List of works - Martina Živná

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

scientific article published on 27 July 2016

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes

scientific article published on 01 August 2020

Autosomal Dominant Tubulointerstitial Kidney Disease

scientific article published on March 2017

Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation

scientific article published on 4 December 2017

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

article

Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report

scientific article published in October 2018

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.

scientific article published in July 2018

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

scientific article

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

scientific article published on 03 July 2020

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

scientific article published on 02 July 2018

Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases

scientific article published on 24 July 2019

Quality of life in patients with autosomal dominant tubulointerstitial kidney disease

Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease

scientific article published on 05 February 2020

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy

scientific article published on 01 July 2019

Uromodulin-associated kidney disease

scientific article published on 11 November 2010

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

scientific article published on 07 February 2014

List of works by Martina Živná