Jan Chandoga

Bratislava, BL, Slovakia

Last Updated: 09/26/2026

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Found 25 publications

Derivation of a new induced pluripotent stem cell line ORIONi004-A for modelling Duchenne muscular dystrophy.

Derivation of a new induced pluripotent stem cell line ORIONi004-A for modelling Duchenne muscular dystrophy.

Journal: Stem cell research

Published: February 16, 2026

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.

Journal: Neurogenetics

Published: January 20, 2026

Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.

Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.

Journal: Clinical biochemistry

Published: December 17, 2025

Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.

Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.

Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia

Published: January 21, 2024

Modelling Duchenne muscular dystrophy in vitro with newly generated, blood cell-derived induced pluripotent stem cell line ORIONi003-A.

Modelling Duchenne muscular dystrophy in vitro with newly generated, blood cell-derived induced pluripotent stem cell line ORIONi003-A.

Journal: Stem cell research

Published: May 26, 2023

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.

Journal: Neurogenetics

Published: March 14, 2022

Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report.

Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report.

Journal: BMC neurology

Published: April 27, 2021

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.

Journal: Neurologia i neurochirurgia polska

Published: May 26, 2020

Phelan-McDermid syndrome in adult patient with atypical bipolar psychosis repeatedly triggered by febrility.

Phelan-McDermid syndrome in adult patient with atypical bipolar psychosis repeatedly triggered by febrility.

Journal: Neurocase

Published: October 31, 2018

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.

Journal: Journal of molecular neuroscience : MN

Published: September 03, 2018

Distribution of the most common polymorphisms in TYMS gene in Slavic population of central Europe.

Distribution of the most common polymorphisms in TYMS gene in Slavic population of central Europe.

Journal: Neoplasma

Published: September 13, 2017

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.

Journal: BMC medical genetics

Published: September 04, 2017

Showing 1-12 of 25

Last Updated: 09/26/2026