Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Olesja Parmová"'
Publikováno v:
Neurologie pro praxi. 21:3-9
Pompeho nemoc (glykogenoza II. typu) je vzacne autosomalně recesivni dědicne metabolicke onemocněni. Průběh onemocněni a celkovou dobu přežiti lze ovlivnit enzymovou substitucni terapii. Neuromuskularni centrum 2. LF UK a FN Motol a Neuromusk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a29026fbe8b674ae20a11ad1bfcdc1e
https://doi.org/10.36290/neu.2020.064
https://doi.org/10.36290/neu.2020.064
Publikováno v:
Muscle & Nerve. 59:431-435
Introduction The objective of this study was to develop a simple method for quantitative assessment of myotonia in patients with myotonic dystrophy type 1 (DM1) and DM2, to compare the myotonia severity, and to correlate this objective outcome with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf8340a35089c6e757682ece5f53df81
https://doi.org/10.1002/mus.26401
https://doi.org/10.1002/mus.26401
Autor:
Radim Mazanec, Eva Kralickova, Josef Bednarik, Olesja Parmová, Martina Podborská, Petra Strádalová, Monika Hulová, Ladislav Dušek, Iva Šrotová, Jiri Jarkovsky, Lívie Mensová, Igor Crha, Eva Vlčková, Lenka Jurikova, S. Vohanka
Publikováno v:
Medicine
Some muscular dystrophies may have a negative impact on fertility. A decreased ovarian reserve is 1 of the factors assumed to be involved in fertility impairment. AMH (anti-Müllerian hormone) is currently considered the best measure of ovarian reser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1009489275b3d5e3f7c6fff7eb49e086
http://europepmc.org/articles/PMC7306369
http://europepmc.org/articles/PMC7306369
Autor:
Stanislav Voháňka, Olesja Parmová
Publikováno v:
Neurologie pro praxi. 17:240-243
Myotonicka dystrofie je nejcastějsi formou svalove dystrofie u dospělých. Hlavnimi projevy jsou progredujici svalova slabost, myotonie a charakteristicka multiorganova postiženi. Bolest je castým (až 75 % pacientů) a zavažným přiznakem chor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e86de5628f60a7fcd48e36e772c2c006
https://doi.org/10.36290/neu.2016.050
https://doi.org/10.36290/neu.2016.050
Autor:
Lenka Fajkusová, J. Junkerova, E. Ehler, Olesja Parmová, J. Stanek, R. Mazanec, M. Forgac, S. Vohanka, Jana Strenková, Jana Haberlová, P. Ridzon
Publikováno v:
Neuromuscular Disorders. 27:S129-S130
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0eae9f3a4d61a4526d6797971d5c469b
https://doi.org/10.1016/j.nmd.2017.06.138
https://doi.org/10.1016/j.nmd.2017.06.138
Publikováno v:
International Journal of Neurology and Neurotherapy. 1
Background: Myotonic dystrophy is the most common form of muscular dystrophy in adults. Pain is reported in various hereditary muscular diseases at a frequency of 64%–83%. Methods: A group of 70 patients with myotonic dystrophy (21 persons with typ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddd5f1ea679e7189cd1e48a73c38eb23
https://doi.org/10.23937/2378-3001/1/1/1009
https://doi.org/10.23937/2378-3001/1/1/1009
Autor:
Radim Mazanec, Jana Strenková, Olesja Parmová, T. Bozovsky, A. Vávra, J. Junkerova, E. Ehler, P. Ridzon, P. Kunc, M. Forgac, S. Vohanka
Publikováno v:
Journal of the Neurological Sciences. 357:e347-e348
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2295bdc402736ffc408676d596213ffb
https://doi.org/10.1016/j.jns.2015.08.1232
https://doi.org/10.1016/j.jns.2015.08.1232
Publikováno v:
Neuromuscular Disorders. 24:891-892
Myotonic dystrophy (DM) is a multisystem disorder characterized by skeletal muscle and multiple organ impairment. The aim of the study is to compare our local data from the registry with that known in other countries. The data from the local part of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57cef1f68597dd03350d1f2d9116e1d6
https://doi.org/10.1016/j.nmd.2014.06.325
https://doi.org/10.1016/j.nmd.2014.06.325
Publikováno v:
Neuromuscular Disorders. 23:834-835
Myotonic dystrophy is a dominantly inherited disorder with multisystem clinical features. In Czech Republic (Central Europe), the type 2 (MD2) is more frequent than type 1 (MD1). Both types share some clinical features, but also have substantial diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34368e94498d6d75c19fe4100e38bcc8
https://doi.org/10.1016/j.nmd.2013.06.678
https://doi.org/10.1016/j.nmd.2013.06.678
Autor:
M. Brazdilova, Petr Vondráček, Petr Brabec, Radim Mazanec, Jana Strenková, Lenka Mrázová, Jana Haberlová, Olesja Parmová, S. Vohanka
Publikováno v:
Neuromuscular Disorders. 24:892
The patient registries belong to the core activities which can help us in planning of the effective health care, assessing standards of diagnosis and care, and answer the questions concerning on epidemiologic data. Besides of the local hospital-based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2d06016059b591f0e99649e4e965302
https://doi.org/10.1016/j.nmd.2014.06.326
https://doi.org/10.1016/j.nmd.2014.06.326