Lehmann-Horn F - Search Results

1

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Müller CR, Treves S. Tilgen N, et al. Hum Mol Genet. 2001 Dec 1;10(25):2879-87. doi: 10.1093/hmg/10.25.2879. Hum Mol Genet. 2001. PMID: 11741831

2

Multipoint mapping of the central core disease locus.

Schwemmle S, Wolff K, Palmucci LM, Grimm T, Lehmann-Horn F, Hübner C, Hauser E, Iles DE, MacLennan DH, Müller CR. Schwemmle S, et al. Genomics. 1993 Jul;17(1):205-7. doi: 10.1006/geno.1993.1302. Genomics. 1993. PMID: 8406450

3

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

Kausch K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Müller CR. Kausch K, et al. Genomics. 1991 Jul;10(3):765-9. doi: 10.1016/0888-7543(91)90461-m. Genomics. 1991. PMID: 1889818

4

A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle.

Gouadon E, Schuhmeier RP, Ursu D, Anderson AA, Treves S, Zorzato F, Lehmann-Horn F, Melzer W. Gouadon E, et al. J Physiol. 2006 Apr 1;572(Pt 1):269-80. doi: 10.1113/jphysiol.2005.104406. Epub 2006 Jan 19. J Physiol. 2006. PMID: 16423849 Free PMC article.

5

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

6

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy.

Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Speich N, Reiners K, Schneider C, Moxley RT 3rd. Ricker K, et al. Arch Neurol. 1995 Jan;52(1):25-31. doi: 10.1001/archneur.1995.00540250029009. Arch Neurol. 1995. PMID: 7826272

7

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.

Deufel T, Sudbrak R, Feist Y, Rübsam B, Du Chesne I, Schäfer KL, Roewer N, Grimm T, Lehmann-Horn F, Hartung EJ, et al. Deufel T, et al. Am J Hum Genet. 1995 Jun;56(6):1334-42. Am J Hum Genet. 1995. PMID: 7762556 Free PMC article.

8

Myotonia levior is a chloride channel disorder.

Lehmann-Horn F, Mailänder V, Heine R, George AL. Lehmann-Horn F, et al. Hum Mol Genet. 1995 Aug;4(8):1397-402. doi: 10.1093/hmg/4.8.1397. Hum Mol Genet. 1995. PMID: 7581380

9

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.

Heine R, George AL Jr, Pika U, Deymeer F, Rüdel R, Lehmann-Horn F. Heine R, et al. Hum Mol Genet. 1994 Jul;3(7):1123-8. doi: 10.1093/hmg/3.7.1123. Hum Mol Genet. 1994. PMID: 7981681

10

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.

Sudbrak R, Golla A, Hogan K, Powers P, Gregg R, Du Chesne I, Lehmann-Horn F, Deufel T. Sudbrak R, et al. Hum Mol Genet. 1993 Jul;2(7):857-62. doi: 10.1093/hmg/2.7.857. Hum Mol Genet. 1993. PMID: 8395939

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