prikaz prve stranice dokumenta Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
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Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
European Journal of Paediatric Neurology, 15 (2011), 3; 189-196. https://doi.org/10.1016/j.ejpn.2011.03.006
Barišić, Nina; Chaouch, Amina; Müller, Juliane S.; Lochmüller, Hanns

Institucijski repozitorij: Dr Med - digitalni repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Citirajte ovaj rad

Barišić, N., Chaouch, A., Müller, J. S. i Lochmüller, H. (2011). Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. European Journal of Paediatric Neurology, 15. (3), 189-196. doi: 10.1016/j.ejpn.2011.03.006

Barišić, Nina, et al. "Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes." European Journal of Paediatric Neurology, vol. 15, br. 3, 2011, str. 189-196. https://doi.org/10.1016/j.ejpn.2011.03.006

Barišić, Nina, Amina Chaouch, Juliane S. Müller i Hanns Lochmüller. "Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes." European Journal of Paediatric Neurology 15, br. 3 (2011): 189-196. https://doi.org/10.1016/j.ejpn.2011.03.006

Barišić, N., et al. (2011) 'Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes', European Journal of Paediatric Neurology, 15(3), str. 189-196. doi: 10.1016/j.ejpn.2011.03.006

Barišić N, Chaouch A, Müller JS, Lochmüller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. European Journal of Paediatric Neurology [Internet]. 05.2011. [pristupljeno 03.05.2024.];15(3):189-196. doi: 10.1016/j.ejpn.2011.03.006

N. Barišić, A. Chaouch, J. S. Müller i H. Lochmüller, "Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes", European Journal of Paediatric Neurology, vol. 15, br. 3, str. 189-196, Svibanj 2011. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:062922. [Citirano: 03.05.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:062922
Podaci o radu
Naslov (engleski)Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
AutorNina Barišić
AutorAmina Chaouch
AutorJuliane S. Müller
AutorHanns Lochmüller
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities. These genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. In this report we will explore the significant progress made in understanding the molecular pathogenesis of CMS, which is important for both patients and clinicians in terms of reaching a definite diagnosis and selecting the most appropriate treatment.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeZavršna verzija rukopisa prihvaćena za objavljivanje (postprint)
Naslov časopisaEuropean Journal of Paediatric Neurology
Brojčani podacivol. 15, br. 3, str. 189-196
p-ISSN1090-3798
DOIhttps://doi.org/10.1016/j.ejpn.2011.03.006
URN:NBNurn:nbn:hr:105:062922
Datum objave publikacije2011-05
URL dokumentahttps://doi.org/10.1016/j.ejpn.2011.03.006
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2024-03-27 19:01:21