1 - 25 of 29 results for author:"Lehmann-Horn F." in Literature citations
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| PRRT2 Mutations are the major cause of benign familial infantile seizures. Schubert J., Paravidino R., Becker F., Berger A., Bebek N., Bianchi A., Brockmann K., Capovilla G., Bernardina B.D., Fukuyama Y. et al. Hum. Mutat. 33:1439-1443(2012) · UniProtKB (1) |
| Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. Synofzik M., Schicks J., Lindig T., Biskup S., Schmidt T., Hansel J., Lehmann-Horn F., Schols L. J. Med. Genet. 48:713-715(2011) · Mapped (4) |
| Open- and closed-state fast inactivation in sodium channels: differential effects of a site-3 anemone toxin. Groome J., Lehmann-Horn F., Holzherr B. Channels (Austin) 5:65-78(2011) · Mapped (3) |
| Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Zullo A., Klingler W., De Sarno C., Ferrara M., Fortunato G., Perrotta G., Gravino E., Di Noto R., Lehmann-Horn F., Melzer W. et al. Hum. Mutat. 30:E575-90(2009) · Mapped (6) |
| Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. Zafeiriou D.I., Lehmann-Horn F., Vargiami E., Teflioudi E., Ververi A., Jurkat-Rott K. Eur. J. Paediatr. Neurol. 13:191-193(2009) · UniProtKB (1) · Mapped (7) |
| GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. Weber Y.G., Storch A., Wuttke T.V., Brockmann K., Kempfle J., Maljevic S., Margari L., Kamm C., Schneider S.A., Huber S.M. et al. J. Clin. Invest. 118:2157-2168(2008) · UniProtKB (1) · Mapped (5) |
| Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy. Wuttke T.V., Penzien J., Fauler M., Seebohm G., Lehmann-Horn F., Lerche H., Jurkat-Rott K. J. Physiol. (Lond.) 586:545-555(2008) · Mapped (10) |
| Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. Wuttke T.V., Jurkat-Rott K., Paulus W., Garncarek M., Lehmann-Horn F., Lerche H. |
| Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation. Meyer T., Jurkat-Rott K., Huebner A., Lehmann-Horn F., Linke P., Van Landeghem F., Dullinger J.S., Spuler S. Muscle Nerve 37:120-124(2008) · Mapped (4) |
| A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle. Gouadon E., Schuhmeier R.P., Ursu D., Anderson A.A., Treves S., Zorzato F., Lehmann-Horn F., Melzer W. J. Physiol. (Lond.) 572:269-280(2006) · UniProtKB (1) · Mapped (1) |
| A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Spadaro M., Ursu S., Lehmann-Horn F., Veneziano L., Liana V., Antonini G., Giovanni A., Giunti P., Paola G., Frontali M. et al. Neurogenetics 5:177-185(2004) · Mapped (11) |
| Cooperative effect of S4-S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel. Popa M.O., Alekov A.K., Bail S., Lehmann-Horn F., Lerche H. J. Physiol. (Lond.) 561:39-51(2004) · Mapped (3) |
| Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. Jurkat-Rott K., Freilinger T., Dreier J.P., Herzog J., Gobel H., Petzold G.C., Montagna P., Gasser T., Lehmann-Horn F., Dichgans M. Neurology 62:1857-1861(2004) · Mapped (11) |
| Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. Jurkat-Rott K., Lehmann-Horn F. |
| 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 L.M., Schneider C., Hauser E., Lehmann-Horn F., Mueller C.R. et al. Hum. Mol. Genet. 10:2879-2887(2001) · UniProtKB (1) |
| Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nicole S., Davoine C.-S., Topaloglu H., Cattolico L., Barral D., Beighton P., Ben-Hamida C., Hammouda H., Cruaud C., White P.S. et al. |
| 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. et al. Proc. Natl. Acad. Sci. U.S.A. 97:9549-9554(2000) · UniProtKB (1) |
| Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2). Schleithoff L., Mehrke G., Reutlinger B., Lehmann-Horn F. Genomics 61:201-209(1999) · UniProtKB (1) |
| 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. Hum. Mol. Genet. 8:2055-2062(1999) · UniProtKB (1) |
| Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. Quane K.A., Ording H., Keating K.E., Manning B.M., Heine R., Bendixen D., Berg K., Krivosic-Horber R., Lehmann-Horn F., Fagerlund T.H. et al. Br. J. Anaesth. 79:332-337(1997) · UniProtKB (1) |
| Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage. Chen M.F., Niggeweg R., Iaizzo P.A., Lehmann-Horn F., Jockusch H. J. Physiol. (Lond.) 504:75-81(1997) · Mapped (11) |
| Novel muscle chloride channel mutations and their effects on heterozygous carriers. Mailaender V., Heine R., Deymeer F., Lehmann-Horn F. Am. J. Hum. Genet. 58:317-324(1996) · UniProtKB (1) |
| Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. Lerche H., Heine R., Pika U., George A.L. Jr., Mitrovic N., Browatzki M., Weiss T., Rivet-Bastide M., Franke C., Lomonaco M. et al. J. Physiol. (Lond.) 470:13-22(1993) · UniProtKB (1) |
| A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Heine R., Pika U., Lehmann-Horn F. Hum. Mol. Genet. 2:1349-1353(1993) · UniProtKB (1) |
| A calcium channel mutation causing hypokalemic periodic paralysis. Jurkatt-Rott K., Lehmann-Horn F., Elbaz A., Heine R., Gregg R.G., Hogan K., Powers P.A., Lapie P., Vale-Santos J.E., Weissenbach J. et al. Hum. Mol. Genet. 3:1415-1419(1994) · UniProtKB (1) |