prikaz prve stranice dokumenta Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
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Scientific paper - Original scientific paper
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

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Barišić, N., Chaouch, A., Müller, J. S. & 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, no. 3, 2011, pp. 189-196. https://doi.org/10.1016/j.ejpn.2011.03.006

Barišić, Nina, Amina Chaouch, Juliane S. Müller and Hanns Lochmüller. "Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes." European Journal of Paediatric Neurology 15, no. 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), pp. 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]. 2011 May [cited 2025 January 11];15(3):189-196. doi: 10.1016/j.ejpn.2011.03.006

N. Barišić, A. Chaouch, J. S. Müller and H. Lochmüller, "Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes", European Journal of Paediatric Neurology, vol. 15, no. 3, pp. 189-196, May 2011. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:062922. [Accessed: 11 January 2025]

Metadata
Title (english)Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
AuthorNina Barišić
AuthorAmina Chaouch
AuthorJuliane S. Müller
AuthorHanns Lochmüller
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionAccepted version
Journal titleEuropean Journal of Paediatric Neurology
Numberingvol. 15, no. 3, pp. 189-196
p-ISSN1090-3798
DOIhttps://doi.org/10.1016/j.ejpn.2011.03.006
URN:NBNurn:nbn:hr:105:062922
Publication2011-05
Document URLhttps://doi.org/10.1016/j.ejpn.2011.03.006
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-27 19:01:21