Jurkat-Rott K - Search Results

1

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Piussan C, Vila A, Monnier N, et al. Elbaz A, et al. Am J Hum Genet. 1995 Feb;56(2):374-80. Am J Hum Genet. 1995. PMID: 7847370 Free PMC article.

2

A calcium channel mutation causing hypokalemic periodic paralysis.

Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, et al. Jurkat-Rott K, et al. Hum Mol Genet. 1994 Aug;3(8):1415-9. doi: 10.1093/hmg/3.8.1415. Hum Mol Genet. 1994. PMID: 7987325

3

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

Fontaine B, Vale-Santos J, Jurkat-Rott K, Reboul J, Plassart E, Rime CS, Elbaz A, Heine R, Guimarães J, Weissenbach J, et al. Fontaine B, et al. Nat Genet. 1994 Mar;6(3):267-72. doi: 10.1038/ng0394-267. Nat Genet. 1994. PMID: 8012389

4

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).

Plassart E, Elbaz A, Santos JV, Reboul J, Lapie P, Chauveau D, Jurkat-Rott K, Guimaraes J, Saudubray JM, Weissenbach J, et al. Plassart E, et al. Hum Genet. 1994 Nov;94(5):551-6. doi: 10.1007/BF00211025. Hum Genet. 1994. PMID: 7959693

5

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F. Jurkat-Rott K, et al. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54. doi: 10.1073/pnas.97.17.9549. Proc Natl Acad Sci U S A. 2000. PMID: 10944223 Free PMC article.

6

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, Tabti N, Lehmann-Horn F, Hainque B, Fontaine B. Sternberg D, et al. Brain. 2001 Jun;124(Pt 6):1091-9. doi: 10.1093/brain/124.6.1091. Brain. 2001. PMID: 11353725

7

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?

Robinson RL, Anetseder MJ, Brancadoro V, van Broekhoven C, Carsana A, Censier K, Fortunato G, Girard T, Heytens L, Hopkins PM, Jurkat-Rott K, Klinger W, Kozak-Ribbens G, Krivosic R, Monnier N, Nivoche Y, Olthoff D, Rueffert H, Sorrentino V, Tegazzin V, Mueller CR. Robinson RL, et al. Eur J Hum Genet. 2003 Apr;11(4):342-8. doi: 10.1038/sj.ejhg.5200964. Eur J Hum Genet. 2003. PMID: 12700608

8

Several interacting genes influence the malignant hyperthermia phenotype.

Robinson R, Hopkins P, Carsana A, Gilly H, Halsall J, Heytens L, Islander G, Jurkat-Rott K, Müller C, Shaw MA. Robinson R, et al. Hum Genet. 2003 Feb;112(2):217-8. doi: 10.1007/s00439-002-0864-6. Epub 2002 Nov 15. Hum Genet. 2003. PMID: 12522565

9

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R. Bachinski LL, et al. Am J Hum Genet. 2003 Oct;73(4):835-48. doi: 10.1086/378566. Epub 2003 Sep 10. Am J Hum Genet. 2003. PMID: 12970845 Free PMC article.

10

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F. Brandt A, et al. Hum Mol Genet. 1999 Oct;8(11):2055-62. doi: 10.1093/hmg/8.11.2055. Hum Mol Genet. 1999. PMID: 10484775

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

131 results

Search Page