Karin Jurkat‐Rott - Publications, H-index & Citations

Karin Jurkat‐Rott

university of helsinki

47H指数

1.3K论文数

7.6K被引数

收录论文 53

发表时间

Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance

SCIENTIFIC REPORTS

IF3.9

2021-02-09

OAAI

Hoppe, Kerstin; Jurkat-Rott, Karin; Kranepuhl, Stefanie; Wearing, Scott; Heiderich, Sebastian; Merlak, Sonja; Klingler, Werner

Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation Paxilline可预防药理诱发的肌强直中肌强直的发作: 临床前研究

FRONTIERS IN PHYSIOLOGY

IF3.4

2020-11-23

OAAI

Hoppe, Kerstin; Sartorius, Tina; Chaiklieng, Sunisa; Wietzorrek, Georg; Ruth, Peter; Jurkat-Rott, Karin; Wearing, Scott; Lehmann-Horn, Frank; Klingler, Werner

Fascial tissue research in sports medicine: from molecules to tissue adaptation, injury and diagnostics: consensus statement 运动医学中的筋膜组织研究: 从分子到组织适应，损伤和诊断: 共识声明

BRITISH JOURNAL OF SPORTS MEDICINE

IF16.2

2018-08-02

130

OAAI

Zuegel, Martina; Maganaris, Constantinos N.; Wilke, Jan; Jurkat-Rott, Karin; Klingler, Werner; Wearing, Scott C.; Findley, Thomas; Barbe, Mary F.; Steinacker, Juergen Michael; Vleeming, Andry; Bloch, Wilhelm; Schleip, Robert; Hodges, Paul William

Nav1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers

SCIENTIFIC REPORTS

IF3.9

2018-07-10

OAAI

Bayless-Edwards, Landon; Winston, Vern; Lehmann-Horn, Frank; Arinze, Paula; Groome, James R.; Jurkat-Rott, Karin

Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L

CEPHALALGIA

IF4.6

2017-11-16

PREAI

Schubert, Victoria; Auffenberg, Eva; Biskup, Saskia; Jurkat-Rott, Karin; Freilinger, Tobias

7-T 35Cl and 23Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses (vol 281, pg 326, 2016)

RADIOLOGY

IF15.2

2016-10-01

PREAI

Weber, Marc-Andre; Nagel, Armin M.; Marschar, Anja M.; Glemser, Philip; Jurkat-Rott, Karin; Wolf, Maya B.; Ladd, Mark E.; Schlemmer, Heinz-Peter; Kauczor, Hans-Ulrich; Lehmann-Horn, Frank

Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals

SCIENTIFIC REPORTS

IF3.9

2016-09-20

OAAI

Hoppe, Kerstin; Hack, Guido; Lehmann-Horn, Frank; Jurkat-Rott, Karin; Wearing, Scott; Zullo, Alberto; Carsana, Antonella; Klingler, Werner

7-T 35Cl and 23Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses

RADIOLOGY

IF15.2

2016-09-01

PREAI

Weber, Marc-Andre; Nagel, Armin M.; Marschar, Anja M.; Glemser, Philip; Jurkat-Rott, Karin; Wolf, Maya B.; Ladd, Mark E.; Schlemmer, Heinz-Peter; Kauczor, Hans-Ulrich; Lehmann-Horn, Frank

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

CEPHALALGIA

IF4.6

2016-07-11

OAAI

Fan, Chunxiang; Wolking, Stefan; Lehmann-Horn, Frank; Hedrich, Ulrike B. S.; Freilinger, Tobias; Lerche, Holger; Borck, Guntram; Kubisch, Christian; Jurkat-Rott, Karin

SCN4A Pore Mutation Pathogenetically Contributes to Autosomal Dominant Essential Tremor and May Increase Susceptibility to Epilepsy

BIOPHYSICAL JOURNAL

IF3.1

2016-02-01

OAAI

Bergareche, Alberto; Bednarz, Marcin J.; Sanchez, Elena; Krebs, Catharine E.; Ruiz-Martinez, Javier; De la Riva, Patricia; Makarov, Vladimir; Gorostidi, Ana; Jurkat-Rott, Karin; Felix Marti-Masso, Jose; Paisan-Ruiz, Coro

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

HUMAN MOLECULAR GENETICS

IF3.2

2015-10-01

OAAI

Bergareche, Alberto; Bednarz, Marcin; Sanchez, Elena; Krebs, Catharine E.; Ruiz-Martinez, Javier; De La Riva, Patricia; Makarov, Vladimir; Gorostidi, Ana; Jurkat-Rott, Karin; Felix Marti-Masso, Jose; Paisan-Ruiz, Coro

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes 编码突触前蛋白的STX1B突变引起发热相关癫痫综合征

NATURE GENETICS

IF31.8

2014-11-02

167

PREAI

Schubert, Julian; Siekierska, Aleksandra; Langlois, Melanie; May, Patrick; Huneau, Clement; Becker, Felicitas; Muhle, Hiltrud; Suls, Arvid; Lemke, Johannes R.; de Kovel, Carolien G. F.; Thiele, Holger; Konrad, Kathryn; Kawalia, Amit; Toliat, Mohammad R.; Sander, Thomas; Rueschendorf, Franz; Caliebe, Almuth; Nagel, Inga; Kohl, Bernard; Kecskes, Angela; Jacmin, Maxime; Hardies, Katia; Weckhuysen, Sarah; Riesch, Erik; Dorn, Thomas; Brilstra, Eva H.; Baulac, Stephanie; Moller, Rikke S.; Hjalgrim, Helle; Koeleman, Bobby P. C.; Jurkat-Rott, Karin; Lehman-Horn, Frank; Roach, Jared C.; Glusman, Gustavo; Hood, Leroy; Galas, David J.; Martin, Benoit; de Witte, Peter A. M.; Biskup, Saskia; De Jonghe, Peter; Helbig, Ingo; Balling, Rudi; Nuernberg, Peter; Crawford, Alexander D.; Esguerra, Camila V.; Weber, Yvonne G.; Lerche, Holger

Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation

CHANNELS

IF3.2

2014-10-31

OAAI

Groome, James R.; Jurkat-Rott, Karin; Lehmann-Horn, Frank

In Vivo 35Cl MR Imaging in Humans: A Feasibility Study

RADIOLOGY

IF15.2

2014-05-01

PREAI

Nagel, Armin M.; Lehmann-Horn, Frank; Weber, Marc-Andre; Jurkat-Rott, Karin; Wolf, Maya B.; Radbruch, Alexander; Umathum, Reiner; Semmler, Wolfhard

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

BRAIN

IF11.7

2014-02-18

OAAI

Groome, James R.; Lehmann-Horn, Frank; Fan, Chunxiang; Wolf, Markus; Winston, Vern; Merlini, Luciano; Jurkat-Rott, Karin

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2014-01-01

OAAI

Klingler, Werner; Heiderich, Sebastian; Girard, Thierry; Gravino, Elvira; Heffron, James J. A.; Johannsen, Stephan; Jurkat-Rott, Karin; Rueffert, Henrik; Schuster, Frank; Snoeck, Marc; Sorrentino, Vincenzo; Tegazzin, Vincenzo; Lehmann-Horn, Frank

Myotonia in DNM2-related centronuclear myopathy

JOURNAL OF NEURAL TRANSMISSION

IF4

2013-12-24

PREAI

Dabby, Ron; Sadeh, Menachem; Gilad, Ronit; Jurkat-Rott, Karin; Lehmann-Horn, Frank; Leshinsky-Silver, Esther

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation

BRAIN

IF11.7

2013-11-15

OAAI

Fan, Chunxiang; Lehmann-Horn, Frank; Weber, Marc-Andre; Bednarz, Marcin; Groome, James R.; Jonsson, Malin K. B.; Jurkat-Rott, Karin