Lehmann-Horn F - Search Results

1

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval.

Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F. Fontaine B, et al. Hum Genet. 1996 Sep;98(3):380-5. doi: 10.1007/s004390050225. Hum Genet. 1996. PMID: 8707312

2

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B. Nicole S, et al. Nat Genet. 2000 Dec;26(4):480-3. doi: 10.1038/82638. Nat Genet. 2000. PMID: 11101850

3

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

Koch MC, Ricker K, Otto M, Grimm T, Bender K, Zoll B, Harper PS, Lehmann-Horn F, Rüdel R, Hoffman EP. Koch MC, et al. Hum Genet. 1991 Nov;88(1):71-4. doi: 10.1007/BF00204932. Hum Genet. 1991. PMID: 1660029

4

Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.

Koch MC, Ricker K, Otto M, Grimm T, Hoffman EP, Rüdel R, Bender K, Zoll B, Harper PS, Lehmann-Horn F. Koch MC, et al. J Med Genet. 1991 Sep;28(9):583-6. doi: 10.1136/jmg.28.9.583. J Med Genet. 1991. PMID: 1683408 Free PMC article.

5

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

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

Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker).

Rüdel R, Ricker K, Lehmann-Horn F. Rüdel R, et al. Muscle Nerve. 1988 Mar;11(3):202-11. doi: 10.1002/mus.880110303. Muscle Nerve. 1988. PMID: 3352655

8

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts.

Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT 3rd. Ricker K, et al. Neurology. 1994 Aug;44(8):1448-52. doi: 10.1212/wnl.44.8.1448. Neurology. 1994. PMID: 8058147

9

Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia.

Lehmann-Horn F, Iaizzo PA, Franke C, Hatt H, Spaans F. Lehmann-Horn F, et al. Muscle Nerve. 1990 Jun;13(6):528-35. doi: 10.1002/mus.880130609. Muscle Nerve. 1990. PMID: 2164152

10

The skeletal muscle chloride channel in dominant and recessive human myotonia.

Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ. Koch MC, et al. Science. 1992 Aug 7;257(5071):797-800. doi: 10.1126/science.1379744. Science. 1992. PMID: 1379744

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