Hypokalämische periodische Paralyse 1

Boerman RH et al. (1995) Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

Ptácek LJ et al. (1994) Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Fontaine B et al. (1994) Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families.

Sokolov S et al. (2007) Gating pore current in an inherited ion channelopathy.

Chabrier S et al. (2008) Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.

Matthews E et al. (2009) Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

Sternberg D et al. (2003) Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.

Jurkat-Rott K et al. (2004) Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.

None (2006) Clinical review: Thyrotoxic periodic paralysis: a diagnostic challenge.

Buruma OJ et al. (1978) Erythrocyte membrane studies in familial hypokalemic periodic paralysis.

Ropers HH et al. (1979) Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation?

None (1977) Anesthetic experiences in a family with hypokalemic familial periodic paralysis.

Corbett VA et al. (1975) Familial hypokalemic periodic paralysis in blacks.

Casley WL et al. (1992) Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.

Kantola IM et al. (1992) Diagnosis of familial hypokalemic periodic paralysis: role of the potassium exercise test.

Fontaine B et al. (1991) Different gene loci for hyperkalemic and hypokalemic periodic paralysis.

Pun KK et al. (1989) Hypokalemic periodic paralysis due to the Sjögren syndrome in Chinese patients.

Ma JT et al. (1986) Fifty cases of primary hyperaldosteronism in Hong Kong Chinese with a high frequency of periodic paralysis. Evaluation of techniques for tumour localisation.

Buruma OJ et al. (1985) Familial hypokalemic periodic paralysis. 50-year follow-up of a large family.

Campa JF et al. (1974) Familial hypokalemic periodic paralysis.

None (1981) Familial periodic paralysis with hypokalaemia. Experimental and clinical investigations.

Raskin RJ et al. (1981) Hypokalemic periodic paralysis in Sjögren's syndrome.

Plassart E et al. (1994) Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).

Jurkat-Rott K et al. (2000) Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

Abbott GW et al. (2001) MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.

Sternberg D et al. (2001) Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

Davies NP et al. (2001) Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

CUSINS PJ et al. (1963) FAMILIAL PERIODIC PARALYSIS. SEVEN CASES IN A DURBAN FAMILY.

Miller TM et al. (2004) Correlating phenotype and genotype in the periodic paralyses.

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