Clinical relevance of defects in signalling pathways

scientific article published on June 1, 1995

Clinical relevance of defects in signalling pathways is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

External links are
P356DOI10.1016/0959-4388(95)80049-2
P953full work available at URLhttps://api.elsevier.com/content/article/PII:0959438895800492?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:0959438895800492?httpAccept=text/plain
P698PubMed publication ID7580159

P2093author name stringJ. O. McNamara
J. E. Kraus
P2860cites workperiodic paralysisQ1788314
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel geneQ41135926
Glutamate receptor antibodies activate a subset of receptors and reveal an agonist binding siteQ41354036
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activationQ41491359
Functional expression of sodium channel mutations identified in families with periodic paralysisQ41576682
Human copper-zinc superoxide dismutase transgenic mice are highly resistant to reperfusion injury after focal cerebral ischemiaQ46473803
Agonist selectivity of glutamate receptors is specified by two domains structurally related to bacterial amino acid-binding proteinsQ46739659
NMDA-dependent superoxide production and neurotoxicityQ48234286
The role of nitric oxide in hippocampal long-term potentiationQ48542124
Possible involvement of nitric oxide in long-term potentiationQ48690459
Strychnine-sensitive inhibition in the medullary reticular formation: evidence for glycine as an inhibitory transmitterQ48765041
Ion channel shake-down.Q52536402
Did radicals strike Lou Gehrig?Q59073020
Kinetics of superoxide dismutase- and iron-catalyzed nitration of phenolics by peroxynitriteQ67568058
A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivationQ67915164
Membrane defects in paramyotonia congenita (Eulenburg)Q69406285
Structure and function of voltage-gated ion channelsQ71612070
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European familiesQ72017458
Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosisQ72621641
Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosisQ72663413
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1Q24312199
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A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouseQ24321378
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexiaQ24336984
Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channelsQ24531491
Tests of the roles of two diffusible substances in long-term potentiation: evidence for nitric oxide as a possible early retrograde messengerQ24559960
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutaseQ27731976
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisQ28131805
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysisQ28183046
Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenitaQ28208914
Primary structure of the adult human skeletal muscle voltage‐dependent sodium channelQ28210170
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenitaQ28210343
A calcium channel mutation causing hypokalemic periodic paralysisQ28242375
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit geneQ28242463
Dihydropyridine receptor mutations cause hypokalemic periodic paralysisQ28243593
Autoantibodies to glutamate receptor GluR3 in Rasmussen's encephalitisQ28245345
Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parametersQ28265960
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysisQ28305953
Glycine receptor alteration in the mutant mouse spasticQ28505662
Isoform-selective deficit of glycine receptors in the mouse mutant spasticQ28589353
Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutationQ29547561
Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5qQ30541673
Peroxynitrite-mediated tyrosine nitration catalyzed by superoxide dismutaseQ30994005
Biochemistry of Nitric Oxide and Its Redox-Activated FormsQ35159350
Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locusQ35197093
Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activityQ35693516
Nitric oxide and synaptic functionQ40389935
Nitric oxide: a physiologic messenger moleculeQ40394921
Overexcited or inactive: ion channels in muscle diseaseQ40398641
Oxidative stress, glutamate, and neurodegenerative disordersQ40618533
Excitotoxicity, free radicals, and cell membrane changesQ40753471
Duchenne-Becker muscular dystrophy and the nondystrophic myotonias. Paradigms for loss of function and change of function of gene productsQ40769399
Genotype-phenotype correlations in human skeletal muscle sodium channel diseasesQ40769409
The ligand-binding domain in metabotropic glutamate receptors is related to bacterial periplasmic binding proteinsQ41074853
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)358-366
P577publication date1995-06-01
P1433published inCurrent Opinion in NeurobiologyQ15763572
P1476titleClinical relevance of defects in signalling pathways
P478volume5