about
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonTranslational approach to address therapy in myotonia permanens due to a new SCN4A mutationLoss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis.When all is lost…a severe myopathy with hypotonia from sodium channel mutations.Commentary: A BK (Slo1) channel journey from molecule to physiologyElevated resting H(+) current in the R1239H type 1 Hypokalemic Periodic Paralysis mutated Ca(2+) channel.The influence of sodium on pathophysiology of multiple sclerosis.Inhibiting persistent inward sodium currents prevents myotonia.Review of the Diagnosis and Treatment of Periodic Paralysis.Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.Na leak with gating pore properties in hypokalemic periodic paralysis V876E mutant muscle Ca channel.N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels.Activity-induced Ca2+ signaling in perisynaptic Schwann cells of the early postnatal mouse is mediated by P2Y1 receptors and regulates muscle fatigue.Kir2.1 channels set two levels of resting membrane potential with inward rectification.Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.Sodium Channelopathies of Skeletal Muscle.When muscle Ca2+ channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis.Mapping ligand binding pockets in chloride ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid.Distinct transcriptomic changes in E14.5 mouse skeletal muscle lacking RYR1 or Cav1.1 converge at E18.5.Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels.Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.SCN4A as modifier gene in patients with myotonic dystrophy type 2Allosteric regulators selectively prevent Ca-feedback of Ca and Na channelsGating Pore Currents in Sodium ChannelsStudy protocol for the MEXiletine hydrochloride administration trial: a placebo-controlled, randomised, double-blind, multicentre, crossover study of its efficacy and safety in spinal and bulbar muscular atrophy (MEXPRESS)Pharmacological characterization of crotamine effects on mice hind limb paralysis employing both ex vivo and in vivo assays: Insights into the involvement of voltage-gated ion channels in the crotamine action on skeletal muscles
P2860
Q26744730-92273A53-149D-4EF3-95AD-363131982314Q26772794-B2459BF1-AE78-4919-BA16-2E610D0D81B1Q27347910-8A098978-65C3-43E5-9E5E-948F46335034Q36615476-5A0F60F0-8AD4-4732-996A-F1BFFB0D7BF0Q36967712-F84565D0-F92E-40E2-B623-8A6649AEF4FBQ37188305-95B2EE88-2ED6-462D-8CA0-F36171418A40Q38557835-ABACC32E-5930-4B4C-9309-1716918698CEQ38600648-21022331-3736-403B-A2EC-4AAA4E815E22Q39081430-82C1F617-0006-4F21-A8FC-3C5CB32F2219Q42702405-3A47AA16-3FB2-431A-99A4-A68FAA1F3CBDQ45957826-E8A11E02-8EEB-4074-92CE-6D5B7C5C4A1FQ47131974-30635212-C59F-45A5-8752-25AE73558015Q47343401-2A367B0A-6AFD-4E19-BA0A-2DE18A4D4171Q47637076-1CE6404A-293E-425B-972F-BF5C2D81346CQ47644010-86C4A765-D015-4461-BAFE-14AC8812EC0DQ48120363-66BB2F09-250D-4F98-BD32-1FC44E629087Q48131423-6FBD5B3B-A921-4A83-A6ED-3A87A16EB5A8Q48134972-4A911727-E015-493D-A1CE-AEC3A942E3BEQ48340157-8CF69831-096B-4945-A9CB-07EB407A8FB7Q49375716-74A12B0E-A864-4B06-BACA-4A0B1BB24BD5Q49908047-E0F37D2A-6507-4184-AADB-75F33F6C0A2BQ52343820-F1808A89-ECE7-46E9-BA2E-C3D34AC2C44CQ52676150-CDC67FE6-AC07-4CAD-B262-9A6DCED0E039Q52726366-827079D7-C490-43C3-BC13-0CF4DFCF17A3Q55176457-511C27C2-B3E5-4103-B3AC-E172C3811B50Q55263198-0BE20101-F99C-4F2B-A30B-FD64D443BDD6Q55512224-ADE974B5-FB37-4F85-9575-BAD07CCEE5D9Q57085775-87B0CED5-A6A7-4140-AB42-479BF6908F07Q57752434-2AB7C09F-E8FD-4268-8D9B-361F62345881Q58327238-FE5BCA41-A68F-4866-92BC-4382FDC537F3Q58750007-2727E7FA-6E2E-4589-819E-7BD87C7D5ECBQ58798767-0B4D6A0D-92A3-4CDA-BE89-9D79D41E6EEE
P2860
description
2015 nî lūn-bûn
@nan
2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Channelopathies of skeletal muscle excitability
@ast
Channelopathies of skeletal muscle excitability
@en
Channelopathies of skeletal muscle excitability
@nl
type
label
Channelopathies of skeletal muscle excitability
@ast
Channelopathies of skeletal muscle excitability
@en
Channelopathies of skeletal muscle excitability
@nl
prefLabel
Channelopathies of skeletal muscle excitability
@ast
Channelopathies of skeletal muscle excitability
@en
Channelopathies of skeletal muscle excitability
@nl
P2860
P3181
P356
P1476
Channelopathies of skeletal muscle excitability
@en
P2093
Stephen C. Cannon
P2860
P304
P3181
P356
10.1002/CPHY.C140062
P407
P577
2015-04-01T00:00:00Z