Pregled bibliografske jedinice broj: 552936
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes // European journal of paediatric neurology, 15 (2011), 3; 189-196 doi:10.1016/j.ejpn.2011.03.006 (recenziran, pregledni rad, stručni)
CROSBI ID: 552936 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
Autori
Barišić, Nina ; Chaouchb, Amina ; Müllerb, Juliane ; Lochmüller, Hanns
Izvornik
European journal of paediatric neurology (1090-3798) 15
(2011), 3;
189-196
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, stručni
Ključne riječi
congenital myasthenic syndromes; neuromuscular synapse; genetics; pathogenesis; treatment
Sažetak
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.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
POVEZANOST RADA
Projekti:
108-1081870-1886 - Uloga subkortikalnih struktura u epileptogenezi u razvojnoj dobi (Barišić, Nina, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Profili:
Nina Barišić
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
