Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Judit Mária Molnár"'
Autor:
Anna Abbas, Lea Danics, Balázs Kis, Anikó Göblös, Roger A Barker, Zoltán L Veréb, Johan Jakobsson, Lajos Kemény, Judit Mária Molnár, Karolina Pircs
Publikováno v:
I: Experimental therapeutics – preclinical.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::793ed8d8ae7358dc43d712d9473feb7a
https://doi.org/10.1136/jnnp-2022-ehdn.247
https://doi.org/10.1136/jnnp-2022-ehdn.247
Autor:
Bernadette Kalman, Judit Boczán, Veronika Karcagi, Judit Mária Molnár, Dénes Zádori, Márta Széll, Péter Klivényi
Publikováno v:
Ideggyógyászati szemle. 74:79-86
Célkitűzés – A spinalis izomatrophia (SMA) az alsó motoneuronok pusztulásával járó progresszív, autoszomális recesszív betegség. Az elmúlt években fordulat következett be az SMA oki kezelésében, két SMN2 splicing módosító és
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af9d0aa1b0fdc019770cb80e903f5204
https://doi.org/10.18071/isz.74.0079
https://doi.org/10.18071/isz.74.0079
Publikováno v:
Ideggyógyászati szemle. 73:339-344
Pompe disease is a rare lysosomal storage disease inherited in a recessive manner resulting muscular dystrophy. Due to the lack of the enzyme alpha glucosidase, glycogen accumulates in the cells. In the infantile form of Pompe disease hypotonia and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9042289b36e5aedaafaa881b65245c99
https://doi.org/10.18071/isz.73.0339
https://doi.org/10.18071/isz.73.0339
Autor:
Katalin Révész, Lidia Hategan, Hedvig Takács, Anita Csillik, Tamás Masszi, Zsuzsanna Arányi, Judit Mária Molnár, Beáta Csányi, Krisztián Birtalan, Balázs Muk, Ágnes Szilágyi, Viktória Nagy, Gergely Peskó, Róbert Sepp, Noemi Nyolczas, Fruzsina Szabó, Béla Iványi, Dorottya Csuka, Zoltán Pozsonyi, Lívia Dézsi
Publikováno v:
Genes
Genes, Vol 12, Iss 1152, p 1152 (2021)
Volume 12
Issue 8
Genes, Vol 12, Iss 1152, p 1152 (2021)
Volume 12
Issue 8
Background: Variant transthyretin amyloidosis (ATTRv) is an autosomal dominant inherited disease, where the mutation of the transthyretin gene (TTR) results in the deposition of pathogenic protein fibrils in various tissues. The mutation type influen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d311f1f771ae528537f011194e1e16
http://europepmc.org/articles/PMC8392019
http://europepmc.org/articles/PMC8392019
Autor:
Judit, Boczán, Péter, Klivényi, Bernadette, Kálmán, Márta, Széll, Veronika, Karcagi, Dénes, Zádori, Judit Mária, Molnár
Publikováno v:
Ideggyogyaszati szemle. 74(3-4)
Background - Spinal muscular atrophy (SMA) is an autosomal recessive, progressive neuromuscular disorder resulting in a loss of lower motoneurons. Recently, new disease-modifying treatments (two drugs for splicing modification of SMN2 and one for SMN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e62a518e5596b121cff40cd3c93551f1
https://pubmed.ncbi.nlm.nih.gov/33938671
https://pubmed.ncbi.nlm.nih.gov/33938671
Autor:
Judit Mária, Molnár, Viktor, Molnár, Izabella, László, Márta, Szegedi, Vera, Várhegyi, Zoltán, Grosz
Publikováno v:
Ideggyogyaszati szemle. 74(3-4)
In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::748187790d36f04de40c04770055e592
https://pubmed.ncbi.nlm.nih.gov/33938668
https://pubmed.ncbi.nlm.nih.gov/33938668
Publikováno v:
Ideggyogyaszati szemle. 73(9-10)
Pompe disease is a rare lysosomal storage disease inherited in a recessive manner resulting muscular dystrophy. Due to the lack of the enzyme alpha glucosidase, glycogen accumulates in the cells. In the infantile form of Pompe disease hypotonia and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da2b4953b3d7a934f3ea29bcaeaaba1d
https://pubmed.ncbi.nlm.nih.gov/33035415
https://pubmed.ncbi.nlm.nih.gov/33035415
Publikováno v:
Clinical care and clinical services.
Background and aims It is very challenging to face and live with a chronic disabling disease like Huntington’s. During the disease course from asymptomatic phase of well being and sattled circumstances the evolutioning signs of intractable hyperkin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7f22ab0c3dd8415892b2535481e175e
https://doi.org/10.1136/jnnp-2018-ehdn.199
https://doi.org/10.1136/jnnp-2018-ehdn.199
Autor:
Peter Balicza, Júlia Koller, Zoltán Grosz, Anikó Gál, Péter Klivényi, Stephan Züchner, Michael A. Gonzalez, Judit Mária Molnár, Edina Timea Varga, Klára Pentelényi, Renáta Bencsik
Publikováno v:
Journal of the neurological sciences. 364
Background Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases with progressive lower limb spasticity and weakness. The aim of this study is to determine the frequency of different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d27d535a3b003a21e4af3710576b686
https://pubmed.ncbi.nlm.nih.gov/27084228
https://pubmed.ncbi.nlm.nih.gov/27084228
Publikováno v:
Case Reports in Clinical Pathology. 4:62
Background: Niemann-Pick’s type B (NP-B) disease is a rare, autosomal recessive visceral storage disorder related to a lysosomal accumulation of sphingomyelin, which is caused by mutations in the sphingomyelinase gene, SMPD1.Case report: We present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::628f9554914860d18c300187b3ae8152
https://doi.org/10.5430/crcp.v4n1p62
https://doi.org/10.5430/crcp.v4n1p62