Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
about
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersA candidate gene for autoimmune myasthenia gravis.LRP4 is critical for neuromuscular junction maintenanceMyasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patientsTherapeutic strategies in congenital myasthenic syndromes.DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA.Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.
P2860
Q24310729-FB3C84E3-D3B3-4782-8755-668827E859DCQ34284842-64474806-E520-4F7C-8CA0-FFA35ED3BB95Q34345625-48105911-A738-4BBA-B477-08B14600C513Q37274613-B423979F-FBE1-4FEB-8AAF-EFF99BEADFD9Q37329521-FB6605A4-9214-4E2C-B7BE-9011FA5BF5E8Q37665624-9102E0B4-93AF-46AA-A93B-DD4E83FC7C27Q40294105-BCEC63C6-41BD-45DF-B725-4F719639A8CAQ48060092-FCD87A21-F406-486E-AE66-7A88F0B794EDQ49527986-1E0580EF-FAEE-4717-A282-48534198EFEC
P2860
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@ast
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@en
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@nl
type
label
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@ast
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@en
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@nl
prefLabel
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@ast
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@en
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@nl
P2093
P1433
P1476
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
@en
P2093
J S Müller
S K Baumeister
S Todorovic
W Müller-Felber
P304
P356
10.1212/01.WNL.0000233837.79459.40
P407
P577
2006-10-10T00:00:00Z