Karin Jurkat‐Rott

Research interests

Publications

• Fascial tissue research in sports medicine: from molecules to tissue adaptation, injury and diagnostics: consensus statement

  British Journal of Sports Medicine · 2018 · https://doi.org/10.1136/bjsports-2018-099308

• Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3130

• The role of fibrosis in Duchenne muscular dystrophy.

  PubMed · 2012

• A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

  Neurology · 2011 · https://doi.org/10.1212/wnl.0b013e318225ab07

• Sodium channelopathies of skeletal muscle result from gain or loss of function

  Pflügers Archiv - European Journal of Physiology · 2010 · https://doi.org/10.1007/s00424-010-0814-4

• Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2

  Neurology · 2010 · https://doi.org/10.1212/wnl.0b013e3181d8c35f

• K + -dependent paradoxical membrane depolarization and Na + overload, major and reversible contributors to weakness by ion channel leaks

  Proceedings of the National Academy of Sciences · 2009 · https://doi.org/10.1073/pnas.0811277106

• A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

  Neurogenetics · 2004 · https://doi.org/10.1007/s10048-004-0183-2

• Variability of familial hemiplegic migraine with novel A1A2 Na + /K + -ATPase variants

  Neurology · 2004 · https://doi.org/10.1212/01.wnl.0000127310.11526.fd

• Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

  The American Journal of Human Genetics · 2003 · https://doi.org/10.1086/378566

• Skeletal muscle channelopathies

  Journal of Neurology · 2002 · https://doi.org/10.1007/s00415-002-0871-5

• Ion channels and epilepsy

  American Journal of Medical Genetics · 2001 · https://doi.org/10.1002/ajmg.1582

• Genetics and pathogenesis of malignant hyperthermia

  Muscle & Nerve · 2000 · https://doi.org/10.1002/(sici)1097-4598(200001)23:1<4::aid-mus3>3.0.co;2-d

• Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

  Proceedings of the National Academy of Sciences · 2000 · https://doi.org/10.1073/pnas.97.17.9549

• Voltage-Gated Ion Channels and Hereditary Disease

  Physiological Reviews · 1999 · https://doi.org/10.1152/physrev.1999.79.4.1317

• A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

  Annals of Neurology · 1999 · https://doi.org/10.1002/1531-8249(199909)46:3<305::aid-ana5>3.0.co;2-5

Current projects

No projects listed.