Publications by authors named "Frank Lehmann-Horn"

85Publications

Correction to: Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation.

Pflugers Arch 2020 Oct;472(10):1533

Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Kelvin Grove, 4059, Australia.

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http://dx.doi.org/10.1007/s00424-020-02450-wDOI Listing
October 2020

Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation.

Pflugers Arch 2020 10 3;472(10):1481-1494. Epub 2020 Aug 3.

Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Kelvin Grove, 4059, Australia.

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http://dx.doi.org/10.1007/s00424-020-02410-4DOI Listing
October 2020

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Neuropediatrics 2019 10 21;50(5):308-312. Epub 2019 Jun 21.

Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1055/s-0039-1688410DOI Listing
October 2019

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G).

J Neurol 2019 Jul 1;266(7):1623-1632. Epub 2019 Apr 1.

Department of Neurophysiology, Ulm University, Albert Einstein-Allee 11, Ulm, Germany.

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http://dx.doi.org/10.1007/s00415-019-09302-3DOI Listing
July 2019

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Acta Myol 2018 Sep 1;37(3):193-203. Epub 2018 Sep 1.

Division of Neurophysiology, Ulm University, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390110PMC
September 2018

Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study.

J Physiol 2019 01 20;597(1):225-235. Epub 2018 Nov 20.

Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove, QLD, Australia.

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http://dx.doi.org/10.1113/JP276528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312412PMC
January 2019

Successful treatment of periodic paralysis with coenzyme Q10: two case reports.

Acta Myol 2016 Oct;35(2):107-108

Division of Neurophysiology, Ulm University, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343741PMC
October 2016

Eplerenone repolarizes muscle membrane through Na,K-ATPase activation by Tyr10 dephosphorylation.

Acta Myol 2016 Oct;35(2):86-89

Department of Neurosurgery, Ulm University, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343744PMC
October 2016

Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals.

Sci Rep 2016 09 20;6:33372. Epub 2016 Sep 20.

Division of Neurophysiology in the Center of Rare Diseases, Ulm University, Albert-Einstein-Allee 23, 89081 Ulm, Germany.

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http://dx.doi.org/10.1038/srep33372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5028841PMC
September 2016

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

Radiology 2016 09 15;280(3):848-59. Epub 2016 Apr 15.

From the Clinic of Diagnostic and Interventional Radiology, University Hospital Heidelberg, Im Neuenheimer Feld 110, D-69120 Heidelberg, Germany (M.A.W., H.U.K.); Department of Radiology (M.A.W., P.G., M.B.W., H.P.S.) and Division of Medical Physics in Radiology (A.M.N., A.M.M., M.E.L.), German Cancer Research Center (DKFZ), Heidelberg, Germany; and Division of Neurophysiology, Ulm University, Ulm, Germany (K.J.R., F.L.H.).

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http://dx.doi.org/10.1148/radiol.2016151617DOI Listing
September 2016

Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.

Muscle Nerve 2015 Oct 30;52(4):680-3. Epub 2015 Jun 30.

Division of Neurophysiology and Neuromuscular Center, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1002/mus.24672DOI Listing
October 2015

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.

J Neurol Neurosurg Psychiatry 2016 Jan 16;87(1):49-52. Epub 2015 Apr 16.

Division of Neurophysiology, Ulm University, Ulm, Germany.

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http://dx.doi.org/10.1136/jnnp-2014-309293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717442PMC
January 2016

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

Channels (Austin) 2014 ;8(5):467-71

a Department of Biological Sciences ; Idaho State University ; Pocatello , ID USA.

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http://dx.doi.org/10.4161/19336950.2014.958924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4594372PMC
September 2015

A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia.

Acta Myol 2014 May;33(1):22-33

Division of Neurophysiology in the Center of Rare Diseases at Ulm University, Ulm, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021628PMC
May 2014

Towards the automated generation of expert profiles for rare diseases through bibliometric analysis.

Stud Health Technol Inform 2014 ;198:47-54

Centre of Rare Diseases Ulm in the Centre of Excellence for Rare Diseases, Baden-Württemberg.

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April 2015

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

Brain 2014 Apr 18;137(Pt 4):998-1008. Epub 2014 Feb 18.

1 Department of Biological Sciences, Idaho State University, Pocatello, ID USA 83209, USA.

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http://dx.doi.org/10.1093/brain/awu015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959555PMC
April 2014

In vivo 35Cl MR imaging in humans: a feasibility study.

Radiology 2014 May 1;271(2):585-95. Epub 2014 Feb 1.

From the Department of Medical Physics in Radiology (A.M.N., R.U., W.S.) and Department of Radiology (M.A.W., M.B.W., A.R.), German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany; Department of Neurophysiology, University of Ulm, Ulm, Germany (F.L., K.J.); Department of Diagnostic and Interventional Radiology (M.A.W., M.B.W.) and Department of Neuroradiology (A.R.), University Hospital Heidelberg, Heidelberg, Germany.

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http://pubs.rsna.org/doi/10.1148/radiol.13131725
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http://dx.doi.org/10.1148/radiol.13131725DOI Listing
May 2014

Myotonia in DNM2-related centronuclear myopathy.

J Neural Transm (Vienna) 2014 May 24;121(5):549-53. Epub 2013 Dec 24.

Departments of Neurology, Edith Wolfson Medical Center, 58100, Holon, Israel,

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http://dx.doi.org/10.1007/s00702-013-1140-8DOI Listing
May 2014

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.

Brain 2013 Dec 15;136(Pt 12):3775-86. Epub 2013 Nov 15.

1 Neurophysiology, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany.

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http://dx.doi.org/10.1093/brain/awt300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859226PMC
December 2013

The role of fibrosis in Duchenne muscular dystrophy.

Acta Myol 2012 Dec;31(3):184-95

Division of Neurophysiology, Ulm University, Ulm, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631802PMC
December 2012

Membrane excitability and excitation-contraction uncoupling in muscle fatigue.

Neuromuscul Disord 2012 Dec;22 Suppl 3:S162-7

Institute of Applied Physiology, Ulm University, Germany.

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http://dx.doi.org/10.1016/j.nmd.2012.10.004DOI Listing
December 2012

The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients.

Acta Myol 2012 Oct;31(2):126-33

Periodic Paralysis International, Ulm University, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476862PMC
October 2012

Pathophysiological role of omega pore current in channelopathies.

Front Pharmacol 2012 11;3:112. Epub 2012 Jun 11.

Department of Neurophysiology, Ulm University Ulm, Germany.

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http://journal.frontiersin.org/article/10.3389/fphar.2012.00
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http://dx.doi.org/10.3389/fphar.2012.00112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372090PMC
October 2012

Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload--initial results.

Radiology 2012 Jul 16;264(1):154-63. Epub 2012 Apr 16.

Department of Diagnostic and Interventional Radiology, University Hospital of Heidelberg, Im Neuenheimer Feld 110, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1148/radiol.12110980DOI Listing
July 2012

A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.

Neuromuscul Disord 2012 Apr 23;22(4):355-60. Epub 2011 Dec 23.

Department of Social Medicine, Poznan University of Medical Sciences, Poland, Rokietnicka Str., 5 C, 60-806 Poznan, Poland.

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http://dx.doi.org/10.1016/j.nmd.2011.10.024DOI Listing
April 2012

Nonanesthetic malignant hyperthermia.

Anesthesiology 2011 Nov;115(5):915-7

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http://dx.doi.org/10.1097/ALN.0b013e318232008fDOI Listing
November 2011

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.

J Med Genet 2011 Oct 11;48(10):713-5. Epub 2011 Jul 11.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2011.090282
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http://dx.doi.org/10.1136/jmg.2011.090282DOI Listing
October 2011

Open- and closed-state fast inactivation in sodium channels: differential effects of a site-3 anemone toxin.

Channels (Austin) 2011 Jan-Feb;5(1):65-78. Epub 2011 Jan 1.

Department of Biological Sciences, Idaho State University, Pocatello, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3052208PMC
http://dx.doi.org/10.4161/chan.5.1.14031DOI Listing
May 2011

Hereditary channelopathies in neurology.

Adv Exp Med Biol 2010 ;686:305-34

Institute of Applied Physiology, Ulm University, Ulm, Germany.

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http://dx.doi.org/10.1007/978-90-481-9485-8_18DOI Listing
December 2010

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

Pflugers Arch 2010 Jul 17;460(2):239-48. Epub 2010 Mar 17.

Institute of Applied Physiology, Ulm University, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00424-010-0814-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883924PMC
July 2010

Core myopathies and risk of malignant hyperthermia.

Anesth Analg 2009 Oct;109(4):1167-73

Department of Anaesthesiology, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1213/ANE.0b013e3181b5ae2dDOI Listing
October 2009

Local calcium signals induced by hyper-osmotic stress in mammalian skeletal muscle cells.

J Muscle Res Cell Motil 2009 13;30(3-4):97-109. Epub 2009 May 13.

Institute of Applied Physiology, Ulm University, Albert-Einstein-Allee 11, 89069 Ulm, Germany.

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http://dx.doi.org/10.1007/s10974-009-9179-8DOI Listing
November 2009

Myotonic disorders.

Handb Clin Neurol 2007 ;86:61-76

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http://dx.doi.org/10.1016/S0072-9752(07)86003-9DOI Listing
October 2012

Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.

Muscle Nerve 2008 Jan;37(1):120-4

Department of Neurology, Charité University Hospital, Berlin, Germany.

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http://dx.doi.org/10.1002/mus.20825DOI Listing
January 2008

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.

Neurotherapeutics 2007 Apr;4(2):216-24

Department of Applied Physiology, Ulm University, Ulm, Germany.

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http://dx.doi.org/10.1016/j.nurt.2007.02.001DOI Listing
April 2007

Paroxysmal muscle weakness: the familial periodic paralyses.

J Neurol 2006 Nov 30;253(11):1391-8. Epub 2006 Nov 30.

Dept of Applied Physiology, Ulm University, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00415-006-0339-0DOI Listing
November 2006

Ion channels and ion transporters of the transverse tubular system of skeletal muscle.

J Muscle Res Cell Motil 2006 24;27(5-7):275-90. Epub 2006 Aug 24.

Department of Physiology, Ulm University, D-89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s10974-006-9088-zDOI Listing
February 2007

Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weakness.

Radiology 2006 Aug 14;240(2):489-500. Epub 2006 Jun 14.

Department of Radiology, German Cancer Research Center, Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1148/radiol.2401050737DOI Listing
August 2006

The human Ca2+-activated K+ channel, IK, can be blocked by the tricyclic antihistamine promethazine.

Neuropharmacology 2006 Mar 28;50(4):458-67. Epub 2005 Nov 28.

Department of Applied Physiology, University of Ulm, Germany.

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http://dx.doi.org/10.1016/j.neuropharm.2005.10.005DOI Listing
March 2006

Passive muscle stiffness may be influenced by active contractility of intramuscular connective tissue.

Med Hypotheses 2006 4;66(1):66-71. Epub 2005 Oct 4.

Department of Applied Physiology, Ulm University, Albert-Einstein-Allee 11, 89069 Ulm, Germany.

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http://dx.doi.org/10.1016/j.mehy.2005.08.025DOI Listing
August 2006

Ion channel defects in idiopathic epilepsies.

Curr Pharm Des 2005 ;11(21):2737-52

Department of Applied Physiology, University of Ulm, Germany.

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http://dx.doi.org/10.2174/1381612054546815DOI Listing
August 2005

Muscle channelopathies and critical points in functional and genetic studies.

J Clin Invest 2005 Aug;115(8):2000-9

Department of Applied Physiology, Ulm University, Ulm, Germany.

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http://dx.doi.org/10.1172/JCI25525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180551PMC
August 2005

3,4-Methylenedioxymethamphetamine (ecstasy) activates skeletal muscle nicotinic acetylcholine receptors.

J Pharmacol Exp Ther 2005 Sep 9;314(3):1267-73. Epub 2005 Jun 9.

Department of Anesthesiology, Ulm University, Germany.

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http://dx.doi.org/10.1124/jpet.105.086629DOI Listing
September 2005

Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.

Pharmacogenet Genomics 2005 Apr;15(4):235-44

Department of Neurology, Medical School Hannover, Hannover, Germany.

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http://dx.doi.org/10.1097/01213011-200504000-00007DOI Listing
April 2005

Complications of anaesthesia in neuromuscular disorders.

Neuromuscul Disord 2005 Mar 28;15(3):195-206. Epub 2005 Jan 28.

Department of Anaesthesiology, Ulm University, Albert-Einstein-Allee 11, 89069 Ulm, Germany.

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http://dx.doi.org/10.1016/j.nmd.2004.10.017DOI Listing
March 2005

Disease-causing mutations or functional polymorphisms?

Acta Myol 2004 Sep;23(2):85-9

Department Applied Physiology, Ulm University, Germany.

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September 2004

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

Neurogenetics 2004 Sep 31;5(3):177-85. Epub 2004 Jul 31.

Department of Neurological Sciences, 1st Medical School, La Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1007/s10048-004-0183-2DOI Listing
September 2004

Cooperative effect of S4-S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel.

J Physiol 2004 Nov 30;561(Pt 1):39-51. Epub 2004 Sep 30.

Department of Applied Physiology, University of Ulm, D-89069 Ulm, Germany.

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http://dx.doi.org/10.1113/jphysiol.2004.065912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665345PMC
November 2004

Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.

Neurology 2004 Mar;62(6):1012-5

Department of Applied Physiology, Ulm University, Germany.

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http://dx.doi.org/10.1212/01.wnl.0000119392.29624.88DOI Listing
March 2004

Sight: automating genomic data-mining without programming skills.

Bioinformatics 2004 Jul 26;20(11):1718-20. Epub 2004 Feb 26.

Department of Applied Physiology, Ulm University, Albert-Einstein-Allee 11, D-89069 Ulm, Germany.

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http://dx.doi.org/10.1093/bioinformatics/bth151DOI Listing
July 2004

An apamin- and scyllatoxin-insensitive isoform of the human SK3 channel.

Mol Pharmacol 2004 Mar;65(3):788-801

Department of Applied Physiology, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1124/mol.65.3.788DOI Listing
March 2004

A novel non-neuronal hSK3 isoform with a dominant-negative effect on hSK3 currents.

Cell Physiol Biochem 2004 ;14(1-2):23-30

Department for Applied Physiology, University-Ulm, Germany.

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http://dx.doi.org/10.1159/000076923DOI Listing
October 2004

The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits.

J Physiol 2004 Feb 28;554(Pt 3):609-19. Epub 2003 Nov 28.

Department of Physiology, Ulm University, Ulm, Germany.

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http://dx.doi.org/10.1113/jphysiol.2003.052712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1664792PMC
February 2004

Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel.

Pflugers Arch 2003 Oct 26;447(1):71-7. Epub 2003 Jul 26.

Department of Applied Physiology, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany.

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http://dx.doi.org/10.1007/s00424-003-1137-5DOI Listing
October 2003

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.

J Physiol 2003 Mar 24;547(Pt 3):691-8. Epub 2003 Jan 24.

Department of Neurology, Medical School Hannover, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany.

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http://www.jphysiol.org/cgi/doi/10.1113/jphysiol.2002.033928
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http://dx.doi.org/10.1113/jphysiol.2002.033928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2342724PMC
March 2003

Skeletal muscle channelopathies.

J Neurol 2002 Nov;249(11):1493-502

Department of Applied Physiology, University of Ulm, 89069 Ulm, Germany.

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http://link.springer.com/10.1007/s00415-002-0871-5
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http://dx.doi.org/10.1007/s00415-002-0871-5DOI Listing
November 2002

Detection of proton release from cultured human myotubes to identify malignant hyperthermia susceptibility.

Anesthesiology 2002 Nov;97(5):1059-66

Department of Anesthesiology, University of Ulm, Germany.

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http://dx.doi.org/10.1097/00000542-200211000-00006DOI Listing
November 2002

Periodic paralysis: understanding channelopathies.

Curr Neurol Neurosci Rep 2002 Jan;2(1):61-9

Department of Physiology, Ulm University, Albert-Einstein-Allee II, Ulm 89069, Germany.

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https://pdfs.semanticscholar.org/6e6f/53e35d6f788cccd7edff73
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http://dx.doi.org/10.1007/s11910-002-0055-9DOI Listing
January 2002

Force assessment in periodic paralysis after electrical muscle stimulation.

Mayo Clin Proc 2002 Mar;77(3):232-40

Department of Neurology, University of Minnesota School of Medicine, Minneapolis 55455, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00256196116235
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http://dx.doi.org/10.4065/77.3.232DOI Listing
March 2002