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Ing. Kateřina Hodaňová Ph.D.
Akademický pracovník na 1. lékařská fakulta
48 publikací
Publikace
publication
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
2023 |
1. lékařská fakulta
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2022 |
1. lékařská fakulta, 3. lékařská fakulta
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
1. lékařská fakulta, 3. lékařská fakulta
publication
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin
2022 |
1. lékařská fakulta
publication
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations
2021 |
1. lékařská fakulta, Lékařská fakulta v Plzni
publication
Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement
2021 |
1. lékařská fakulta
publication
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
2020 |
1. lékařská fakulta
publication
Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases
2020 |
1. lékařská fakulta
publication
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing
2020 |
1. lékařská fakulta
publication
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
2020 |
1. lékařská fakulta
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