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Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation.
Published in:
Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.533946
By:
- Hoppe, Kerstin;
- Sartorius, Tina;
- Chaiklieng, Sunisa;
- Wietzorrek, Georg;
- Ruth, Peter;
- Jurkat-Rott, Karin;
- Wearing, Scott;
- Lehmann-Horn, Frank;
- Klingler, Werner
Publication type:
Article
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-8
By:
- Klingler, Werner;
- Heiderich, Sebastian;
- Girard, Thierry;
- Gravino, Elvira;
- Heffron, James J. A.;
- Johannsen, Stephan;
- Jurkat-Rott, Karin;
- Rüffert, Henrik;
- Schuster, Frank;
- Snoeck, Marc;
- Sorrentino, Vincenzo;
- Tegazzin, Vincenzo;
- Lehmann-Horn, Frank
Publication type:
Article
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Published in:
2014
By:
- Klingler, Werner;
- Heiderich, Sebastian;
- Girard, Thierry;
- Gravino, Elvira;
- Heffron, James Ja;
- Johannsen, Stephan;
- Jurkat-Rott, Karin;
- Rüffert, Henrik;
- Schuster, Frank;
- Snoeck, Marc;
- Sorrentino, Vincenzo;
- Tegazzin, Vincenzo;
- Lehmann-Horn, Frank
Publication type:
journal article
Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12-q12 in 14 Families.
Published in:
Epilepsia (Series 4), 2004, v. 45, n. 6, p. 601, doi. 10.1111/j.0013-9580.2004.48203.x
By:
- Weber, Yvonne G.;
- Berger, Andrea;
- Bebek, Nerses;
- Maier, Sabine;
- Karafyllakes, Skevos;
- Meyer, Nancy;
- Fukuyama, Yukio;
- Halbach, Anne;
- Hikel, Christiane;
- Kurlemann, Gerhard;
- Neubauer, Bernd;
- Osawa, Makiko;
- Püst, Burkhard;
- Rating, Dietz;
- Saito, Kayoko;
- Stephani, Ulrich;
- Tauer, Ulrike;
- Lehmann-Horn, Frank;
- Jurkat-Rott, Karin;
- Lerche, Holger
Publication type:
Article
Muscle channelopathies and critical points in functional and genetic studies.
Published in:
Journal of Clinical Investigation, 2005, v. 115, n. 8, p. 2000, doi. 10.1172/JCI25525
By:
- Jurkat-Rott, Karin;
- Lehmann-Horn, Frank
Publication type:
Article
Neutralization of a negative charge in the S1–S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.
Published in:
Journal of Physiology, 2008, v. 586, n. 2, p. 545, doi. 10.1113/jphysiol.2007.143826
By:
- Wuttke, Thomas V.;
- Penzien, Johann;
- Fauler, Michael;
- Seebohm, Guiscard;
- Lehmann-Horn, Frank;
- Lerche, Holger;
- Jurkat-Rott, Karin
Publication type:
Article
The impact of splice isoforms on voltage-gated calcium channel α1 subunits.
Published in:
Journal of Physiology, 2004, v. 554, n. 3, p. 609, doi. 10.1113/jphysiol.2003.052712
By:
- Jurkat-Rott, Karin;
- Lehmann-Horn, Frank
Publication type:
Article
Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.
Published in:
2018
By:
- Schubert, Victoria;
- Auffenberg, Eva;
- Biskup, Saskia;
- Jurkat-Rott, Karin;
- Freilinger, Tobias
Publication type:
Letter
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
Published in:
2016
By:
- Fan, Chunxiang;
- Wolking, Stefan;
- Lehmann-Horn, Frank;
- Hedrich, Ulrike B. S.;
- Freilinger, Tobias;
- Lerche, Holger;
- Borck, Guntram;
- Kubisch, Christian;
- Jurkat-Rott, Karin;
- Hedrich, Ulrike Bs
Publication type:
journal article
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Published in:
Nature Genetics, 2014, v. 46, n. 12, p. 1327, doi. 10.1038/ng.3130
By:
- Schubert, Julian;
- Becker, Felicitas;
- Weber, Yvonne G;
- Lerche, Holger;
- Thiele, Holger;
- Konrad, Kathryn;
- Kawalia, Amit;
- Toliat, Mohammad R;
- Sander, Thomas;
- Rüschendorf, Franz;
- Caliebe, Almuth;
- Nagel, Inga;
- Kohl, Bernard;
- Riesch, Erik;
- Dorn, Thomas;
- Baulac, Stephanie;
- Møller, Rikke S;
- Hjalgrim, Helle;
- Jurkat-Rott, Karin;
- Lehman-Horn, Frank
Publication type:
Article
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals.
Published in:
Scientific Reports, 2016, p. 33372, doi. 10.1038/srep33372
By:
- Hoppe, Kerstin;
- Hack, Guido;
- Lehmann-Horn, Frank;
- Jurkat-Rott, Karin;
- Wearing, Scott;
- Zullo, Alberto;
- Carsana, Antonella;
- Klingler, Werner
Publication type:
Article
Periodic paralysis: Understanding channelopathies.
Published in:
Current Neurology & Neuroscience Reports, 2002, v. 2, n. 1, p. 61, doi. 10.1007/s11910-002-0055-9
By:
- Lehmann-Horn, Frank;
- Jurkat-Rott, Karin;
- Rüdel, Reinhardt
Publication type:
Article
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
Published in:
2015
By:
- Torbergsen, Torberg;
- Jurkat‐Rott, Karin;
- StÅLberg, Erik V.;
- Løseth, Sissel;
- Hødneø, Anne;
- Lehmann‐Horn, Frank
Publication type:
journal article
Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.
Published in:
Muscle & Nerve, 2008, v. 37, n. 1, p. 120, doi. 10.1002/mus.20825
By:
- Meyer, Thomas;
- Jurkat-Rott, Karin;
- Huebner, Angela;
- Lehmann-Horn, Frank;
- Linke, Peter;
- Van Landeghem, Frank;
- Dullinger, Jörn S.;
- Spuler, Simone
Publication type:
Article
Genetics and pathogenesis of malignant hyperthermia.
Published in:
2000
By:
- Jurkat-Rott, Karin;
- McCarthy, Tommie;
- Lehmann-Horn, Frank;
- Jurkat-Rott, K;
- McCarthy, T;
- Lehmann-Horn, F
Publication type:
journal article
Paroxysmal muscle weakness - the familial periodic paralyses.
Published in:
Journal of Neurology, 2006, v. 253, n. 11, p. 1391, doi. 10.1007/s00415-006-0339-0
By:
- Jurkat-Rott, Karin;
- Lehmann-Horn, Frank
Publication type:
Article
Skeletal muscle channelopathies.
Published in:
Journal of Neurology, 2002, v. 249, n. 11, p. 1493, doi. 10.1007/s00415-002-0871-5
By:
- Jurkat-Rott, Karin;
- Lerche, Holger;
- Lehmann-Horn, Frank
Publication type:
Article
Several interacting genes influence the malignant hyperthermia phenotype.
Published in:
Human Genetics, 2003, v. 112, n. 2, p. 217, doi. 10.1007/s00439-002-0864-6
By:
- Robinson, Rachel;
- Hopkins, Philip;
- Carsana, Antonella;
- Gilly, Hermann;
- Halsall, Jane;
- Heytens, Luc;
- Islander, Gunilla;
- Jurkat-Rott, Karin;
- Müller, Clemens;
- Shaw, Marie-Anne
Publication type:
Article
Correction to: Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation.
Published in:
2020
By:
- Hoppe, Kerstin;
- Chaiklieng, Sunisa;
- Lehmann-Horn, Frank;
- Jurkat-Rott, Karin;
- Wearing, Scott;
- Klingler, Werner
Publication type:
Correction Notice
Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation.
Published in:
Pflügers Archiv: European Journal of Physiology, 2020, v. 472, n. 10, p. 1481, doi. 10.1007/s00424-020-02410-4
By:
- Hoppe, Kerstin;
- Chaiklieng, Sunisa;
- Lehmann-Horn, Frank;
- Jurkat-Rott, Karin;
- Wearing, Scott;
- Klingler, Werner
Publication type:
Article
Sodium channelopathies of skeletal muscle result from gain or loss of function.
Published in:
Pflügers Archiv: European Journal of Physiology, 2010, v. 460, n. 2, p. 239, doi. 10.1007/s00424-010-0814-4
By:
- Jurkat-Rott, Karin;
- Holzherr, Boris;
- Fauler, Michael;
- Lehmann-Horn, Frank
Publication type:
Article
Gating of the HypoPP-1 mutations: II. Effects of a calcium-channel agonist BayK 8644.
Published in:
Pflügers Archiv: European Journal of Physiology, 2007, v. 454, n. 4, p. 605, doi. 10.1007/s00424-007-0228-0
By:
- Kuzmenkin, Alexey;
- Chao Hang;
- Kuzmenkina, Elza;
- Jurkat-Rott, Karin
Publication type:
Article
Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity.
Published in:
Pflügers Archiv: European Journal of Physiology, 2007, v. 454, n. 3, p. 495, doi. 10.1007/s00424-007-0225-3
By:
- Kuzmenkin, Alexey;
- Chao Hang;
- Kuzmenkina, Elza;
- Jurkat-Rott, Karin
Publication type:
Article
Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel.
Published in:
Pflügers Archiv: European Journal of Physiology, 2003, v. 447, n. 1, p. 71, doi. 10.1007/s00424-003-1137-5
By:
- Kuzmenkin, Alexey;
- Jurkat-Rott, Karin;
- Lehmann-Horn, Frank;
- Mitrovic, Nenad
Publication type:
Article
Hypokalemic Periodic Paralysis Induced by Thymic Hyperplasia and Relieved by Thymectomy.
Published in:
JAMA Neurology, 2013, v. 70, n. 11, p. 1436, doi. 10.1001/jamaneurol.2013.3918
By:
- Renrong Yang;
- Jurkat-Rott, Karin;
- Cao, Jinlin;
- Guofeng Wang;
- Seelig, Hans-Peter;
- Changping Yang;
- Guibao Liu;
- Lin Pan;
- Haiyan Zheng;
- Lehmann-Horn, Frank
Publication type:
Article
NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 998, doi. 10.1093/brain/awu015
By:
- Groome, James R.;
- Lehmann-Horn, Frank;
- Fan, Chunxiang;
- Wolf, Markus;
- Winston, Vern;
- Merlini, Luciano;
- Jurkat-Rott, Karin
Publication type:
Article
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.
Published in:
2013
By:
- Fan, Chunxiang;
- Lehmann-Horn, Frank;
- Weber, Marc-André;
- Bednarz, Marcin;
- Groome, James R;
- Jonsson, Malin K B;
- Jurkat-Rott, Karin
Publication type:
journal article
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3775, doi. 10.1093/brain/awt300
By:
- Fan, Chunxiang;
- Lehmann-Horn, Frank;
- Weber, Marc-André;
- Bednarz, Marcin;
- Groome, James R.;
- Jonsson, Malin K. B.;
- Jurkat-Rott, Karin
Publication type:
Article
Enhanced inactivation and pH sensitivity of Na+ channel mutations causing hypokalaemic periodic paralysis type II.
Published in:
Brain: A Journal of Neurology, 2002, v. 125, n. 4, p. 835, doi. 10.1093/brain/awf071
By:
- Kuzmenkin, Alexey;
- Muncan, Vanesa;
- Jurkat‐Rott, Karin;
- Hang, Chao;
- Lerche, Holger;
- Lehmann‐Horn, Frank;
- Mitrovic, Nenad
Publication type:
Article
Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.
Published in:
FASEB Journal, 2012, v. 26, n. 2, p. 513, doi. 10.1096/fj.11-189126
By:
- Seebohm, Guiscard;
- Strutz-Seebohm, Nathalie;
- Ursu, Oana N.;
- Preisig-Müller, Regina;
- Zuzarte, Marylou;
- Hill, Elaine V.;
- Bendahhou, Said;
- Fauler, Michael;
- Tapken, Daniel;
- Decher, Niels;
- Collins, Anthony;
- Jurkat-Rott, Karin;
- Steinmeyer, Klaus;
- Lehmann-Horn, Frank;
- Daut, Jürgen;
- Tavaré, Jeremy M.;
- Pott, Lutz;
- Bloch, Wilhelm;
- Lang, Florian;
- Kienitz, Marie-Cécile
Publication type:
Article
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.
Published in:
Acta Myologica, 2018, v. 37, n. 3, p. 193
By:
- CHUNXIANG FAN;
- KUHN, MARIUS;
- PEPLER, ALEXANDER;
- GROOME, JAMES;
- WINSTON, VERN;
- BISKUP, SASKIA;
- LEHMANN-HORN, FRANK;
- JURKAT-ROTT, KARIN
Publication type:
Article
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
Published in:
Acta Myologica, 2017, v. 36, n. 3, p. 125
By:
- LEHMANN-HORN, FRANK;
- D'AMICO, ADELE;
- BERTINI, ENRICO;
- LOMONACO, MAURO;
- MERLINI, LUCIANO;
- NELSON, KEVIN R.;
- PHILIPPI, HEIKE;
- SICILIANO, GABRIELE;
- SPAANS, FRANK;
- JURKAT-ROTT, KARIN
Publication type:
Article
23Na MRI and myometry to compare eplerenone vs. glucocorticoid treatment in Duchenne dystrophy.
Published in:
Acta Myologica, 2017, v. 36, p. 2
By:
- GLEMSER, PHILIP A.;
- JAEGER, HEIKE;
- NAGEL, ARMIN M.;
- ZIEGLER, ANDREAS E.;
- SIMONS, DAVID;
- SCHLEMMER, HEINZ-PETER;
- LEHMANN-HORN, FRANK;
- JURKAT-ROTT, KARIN;
- WEBER, MARC-ANDRÉ
Publication type:
Article
Successful treatment of periodic paralysis with coenzyme Q10: two case reports.
Published in:
Acta Myologica, 2016, v. 35, p. 107
By:
- YUWEI DA;
- LIN LEI;
- JURKAT-ROTT, KARIN;
- LEHMANN-HORN, FRANK
Publication type:
Article
Eplerenone repolarizes muscle membrane through Na,K-ATPase activation by Tyr10 dephosphorylation.
Published in:
Acta Myologica, 2016, v. 35, p. 86
By:
- BREITENBACH, SIMON;
- LEHMANN-HORN, FRANK;
- JURKAT-ROTT, KARIN
Publication type:
Article
Obituary for Prof. Dr. Dr. h.c. Dipl. Ing. Frank Lehmann-Horn.
Published in:
2019
By:
- Lerche, Holger;
- Jurkat-Rott, Karin;
- Weber, Marc-André
Publication type:
Letter
Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G).
Published in:
Journal of Neurology, 2019, v. 266, n. 7, p. 1623, doi. 10.1007/s00415-019-09302-3
By:
- Weber, Marc-André;
- Jurkat-Rott, Karin;
- Lerche, Holger;
- Lehmann-Horn, Frank
Publication type:
Article
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82024-7
By:
- Hoppe, Kerstin;
- Jurkat-Rott, Karin;
- Kranepuhl, Stefanie;
- Wearing, Scott;
- Heiderich, Sebastian;
- Merlak, Sonja;
- Klingler, Werner
Publication type:
Article
SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 24, p. 7111, doi. 10.1093/hmg/ddv410
By:
- Bergareche, Alberto;
- Bednarz, Marcin;
- Sánchez, Elena;
- Krebs, Catharine E.;
- Ruiz-Martinez, Javier;
- La Riva, Patricia De;
- Makarov, Vladimir;
- Gorostidi, Ana;
- Jurkat-Rott, Karin;
- Marti-Masso, Jose Felix;
- Paisán-Ruiz, Coro
Publication type:
Article
Sight: automating genomic data-mining without programming skills.
Published in:
Bioinformatics, 2004, v. 20, n. 11, p. 1718, doi. 10.1093/bioinformatics/bth151
By:
- Audrius Meskauskas;
- Frank Lehmann-Horn;
- Karin Jurkat-Rott
Publication type:
Article
Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study.
Published in:
Journal of Physiology, 2019, v. 597, n. 1, p. 225, doi. 10.1113/JP276528
By:
- Hoppe, Kerstin;
- Chaiklieng, Sunisa;
- Lehmann‐Horn, Frank;
- Jurkat‐Rott, Karin;
- Wearing, Scott;
- Klingler, Werner
Publication type:
Article
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
Published in:
Journal of Physiology, 2012, v. 590, n. 15, p. 3449, doi. 10.1113/jphysiol.2012.232785
By:
- Weinberger, Sebastian;
- Wojciechowski, Daniel;
- Sternberg, Damien;
- Lehmann-Horn, Frank;
- Jurkat-Rott, Karin;
- Becher, Toni;
- Begemann, Birgit;
- Fahlke, Christoph;
- Fischer, Martin
Publication type:
Article
PRRT2 Mutations are the major cause of benign familial infantile seizures.
Published in:
Human Mutation, 2012, v. 33, n. 10, p. 1439, doi. 10.1002/humu.22126
By:
- Schubert, Julian;
- Paravidino, Roberta;
- Becker, Felicitas;
- Berger, Andrea;
- Bebek, Nerses;
- Bianchi, Amedeo;
- Brockmann, Knut;
- Capovilla, Giuseppe;
- Dalla Bernardina, Bernardo;
- Fukuyama, Yukio;
- Hoffmann, Georg F.;
- Jurkat-Rott, Karin;
- Anttonen, Anna-Kaisa;
- Kurlemann, Gerhard;
- Lehesjoki, Anna-Elina;
- Lehmann-Horn, Frank;
- Mastrangelo, Massimo;
- Mause, Ulrike;
- Müller, Stephan;
- Neubauer, Bernd
Publication type:
Article
Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.
Published in:
Human Mutation, 2005, v. 26, n. 4, p. 315, doi. 10.1002/humu.20229
By:
- Todt, Unda;
- Dichgans, Martin;
- Jurkat-Rott, Karin;
- Heinze, Axel;
- Zifarelli, Giovanni;
- Koenderink, Jan B.;
- Goebel, Ingrid;
- Zumbroich, Vera;
- Stiller, Anne;
- Ramirez, Alfredo;
- Friedrich, Thomas;
- Göbel, Hartmut;
- Kubisch, Christian
Publication type:
Article
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 11, p. 2055, doi. 10.1093/hmg/8.11.2055
By:
- Brandt, Annebill;
- Schleithoff, Lothar;
- Jurkat-Rott, Karin;
- Klingler, Werner;
- Baur, Christoph;
- Lehmann-Horn, Frank
Publication type:
Article
Myotonia in DNM2-related centronuclear myopathy.
Published in:
Journal of Neural Transmission, 2014, v. 121, n. 5, p. 549, doi. 10.1007/s00702-013-1140-8
By:
- Dabby, Ron;
- Sadeh, Menachem;
- Gilad, Ronit;
- Jurkat-Rott, Karin;
- Lehmann-Horn, Frank;
- Leshinsky-Silver, Esther
Publication type:
Article
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
Published in:
2005
By:
- Spadaro, Maria;
- Ursu, Simona;
- Lehmann-Horn, Frank;
- Veneziano, Liana;
- Antonini, Giovanni;
- Giunti, Paola;
- Frontali, Marina;
- Jurkat-Rott, Karin
Publication type:
Correction Notice
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
Published in:
Neurogenetics, 2004, v. 5, n. 3, p. 177, doi. 10.1007/s10048-004-0183-2
By:
- Spadaro, Maria;
- Ursu, Simona;
- Lehmann-Horn, Frank;
- Liana, Veneziano;
- Giovanni, Antonini;
- Paola, Giunti;
- Frontali, Marina;
- Jurkat-Rott, Karin
Publication type:
Article

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