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Anti-Müllerian hormone as an ovarian reserve marker in women with the most frequent muscular dystrophies.
Parmova O, Vlckova E, Hulova M, Mensova L, Crha I, Stradalova P, Kralickova E, Jurikova L, Podborska M, Mazanec R, Dusek L, Jarkovsky J, Bednarik J, Vohanka S, Srotova I. Parmova O, et al. Among authors: mazanec r. Medicine (Baltimore). 2020 Jun 5;99(23):e20523. doi: 10.1097/MD.0000000000020523. Medicine (Baltimore). 2020. PMID: 32502004 Free PMC article.
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D, Zídková J, Voháňka S, Mazanec R, Mušová Z, Vondráček P, Mrázová L, Kraus J, Réblová K, Fajkusová L. Skálová D, et al. Among authors: mazanec r. PLoS One. 2013 Dec 11;8(12):e82549. doi: 10.1371/journal.pone.0082549. eCollection 2013. PLoS One. 2013. PMID: 24349310 Free PMC article.
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K, Skálová D, Zídková J, Mrázová L, Vondráček P, Mazanec R, Voháňka S, Haberlová J, Hermanová M, Zámečník J, Souček O, Ošlejšková H, Dvořáčková N, Solařová P, Fajkusová L. Stehlíková K, et al. Among authors: mazanec r. BMC Neurol. 2014 Aug 19;14:154. doi: 10.1186/s12883-014-0154-7. BMC Neurol. 2014. PMID: 25135358 Free PMC article.
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
Stehlíková K, Skálová D, Zídková J, Haberlová J, Voháňka S, Mazanec R, Mrázová L, Vondráček P, Ošlejšková H, Zámečník J, Honzík T, Zeman J, Magner M, Šišková D, Langová M, Gregor V, Godava M, Smolka V, Fajkusová L. Stehlíková K, et al. Among authors: mazanec r. Clin Genet. 2017 Mar;91(3):463-469. doi: 10.1111/cge.12839. Epub 2016 Sep 26. Clin Genet. 2017. PMID: 27447704
Risk factors for depression and anxiety in painful and painless diabetic polyneuropathy: A multicentre observational cross-sectional study.
Kec D, Rajdova A, Raputova J, Adamova B, Srotova I, Nekvapilova EK, Michalcakova RN, Horakova M, Belobradkova J, Olsovsky J, Weber P, Hajas G, Kaiserova M, Mazanec R, Potockova V, Ehler E, Forgac M, Birklein F, Üçeyler N, Sommer C, Bednarik J, Vlckova E. Kec D, et al. Among authors: mazanec r. Eur J Pain. 2022 Feb;26(2):370-389. doi: 10.1002/ejp.1865. Epub 2021 Oct 10. Eur J Pain. 2022. PMID: 34592017 Free PMC article.
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J, Kramářová T, Kopčilová J, Réblová K, Haberlová J, Mazanec R, Voháňka S, Gřegořová A, Langová M, Honzík T, Šoukalová J, Ošlejšková H, Solařová P, Vyhnálková E, Fajkusová L. Zídková J, et al. Among authors: mazanec r. Clin Genet. 2023 Nov;104(5):542-553. doi: 10.1111/cge.14407. Epub 2023 Aug 1. Clin Genet. 2023. PMID: 37526466
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Wood L, et al. Among authors: mazanec r. Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Orphanet J Rare Dis. 2018. PMID: 30185236 Free PMC article.
73 results