Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.
about
Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy.Imaging alterations in skeletal muscle channelopathies: a study in 15 patientsBiophysics, pathophysiology, and pharmacology of ion channel gating pores.Molecular biology and biophysical properties of ion channel gating pores.Elevated resting H(+) current in the R1239H type 1 Hypokalemic Periodic Paralysis mutated Ca(2+) channel.Gating pore currents, a new pathological mechanism underlying cardiac arrhythmias associated with dilated cardiomyopathy.Domain III S4 in closed-state fast inactivation: insights from a periodic paralysis mutationMutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.When muscle Ca2+ channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis.Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V.Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
P2860
Q35014373-FAE988C9-F6BC-4F66-8361-C436C3E6FA7AQ36876590-FB90D438-C5BB-48DD-8DD0-93F094FC7CB4Q38207583-86356CC9-9EC8-4A88-934D-BD493A8B6E8FQ38266367-3C78F268-C3CB-4797-98D2-97271AF09DA5Q38600648-A6757F0E-319F-4FF9-A023-5BE98A4E7447Q41277802-45E2F710-CE67-468E-9389-36DA60BE708EQ41289031-562821E3-2D86-4EF8-A1BC-67E2E2B7E56BQ43110938-139A08F6-3860-49D5-A8E9-284A2A8EFBF3Q47343401-05465CEB-EF10-48E8-8B5B-D5642E24C222Q52343820-0096E0B5-2463-4BC0-A26D-3ABF39893F11Q55392559-62E24845-26C1-476C-8200-4AEFD07A87F9Q57491618-F21139DA-8615-4912-BB5C-C666F39C993F
P2860
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca
@nl
Transient compartment-like syn ...... is due to a Ca(v)1.1 mutation.
@en
type
label
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca
@nl
Transient compartment-like syn ...... is due to a Ca(v)1.1 mutation.
@en
prefLabel
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca
@nl
Transient compartment-like syn ...... is due to a Ca(v)1.1 mutation.
@en
P2093
P2860
P356
P1433
P1476
Transient compartment-like syn ...... is due to a Ca(v)1.1 mutation.
@en
P2093
Chunxiang Fan
Frank Lehmann-Horn
James R Groome
Malin K B Jonsson
Marc-André Weber
Marcin Bednarz
P2860
P304
P356
10.1093/BRAIN/AWT300
P407
P577
2013-11-15T00:00:00Z