[Muscular genetic disorders caused by abnormal membrane excitability]

scientific article published on 01 May 2004

[Muscular genetic disorders caused by abnormal membrane excitability] is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1016/S0035-3787(04)71003-6
P698PubMed publication ID15269658

P2093author name stringB Fontaine
P2860cites workMutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndromeQ24291252
Identification of a mutation in the gene causing hyperkalemic periodic paralysisQ24314688
Lack of association of the potassium channel–associated peptide MiRP2-R83H variant with periodic paralysisQ28204469
Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenitaQ28208914
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
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysisQ28305953
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic featuresQ34333434
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced currentQ35208537
Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells.Q41215041
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.Q43608348
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).Q47810194
A novel sodium channel mutation in a family with hypokalemic periodic paralysisQ55670198
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European familiesQ72017458
P433issue5 Pt 2
P304page(s)S35-7
P577publication date2004-05-01
P1433published inRevue neurologiqueQ7318987
P1476title[Muscular genetic disorders caused by abnormal membrane excitability]
P478volume160

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