Frank Lehmann-Horn Medical Research Library
A Medical Library of Research by Dr. Frank Lehmann-Horn
Dr. Frank Lehmann-Horn (June 22, 1948 ‐ May 5, 2018) was the leader in so many facets of understanding and treating the periodic paralyses, as well as being especially caring for the daily stresses endured by the patients themselves.
With his passing in 2018, the Periodic Paralysis Association wanted to create a living tribute to everything he accomplished, including the foundations he laid for others in the fight for cures.
We are honored to include on our website every locatable document that he either wrote or co-wrote on the subject of Periodic Paralysis. In so doing, we want to humbly thank his wife, Christa, for giving us access to these documents.
We at the PPA will continue to remember this great man fondly and are proud to establish the Lehmann-Horn Library in his honor.
- A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation [Alekov 2000]
- Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man [Alekoc 2001]
- Two mutations in the IV/S4-S5 segment of the human skeletal muscle Na+ channel disrupt fast and enhance slow inactivation [Alekov 2001]
- Open- and closed-state fast inactivation in sodium channels [Groome 2011]
- Sodium channelopathies of skeletal muscle result from gain or loss of function [Jurkat-Rott 2010]
- Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel [Kuzmenkin 2003]
- SCHWARTZ- JAMPEL SYNDROME: II. Na+ Channel defect causes Myotonia [Lehmann-Horn 1990]
- Altered gating and conductance of Na+ channels in hyperkalemic periodic paralysis [Lehmann-Horn 1991]
- A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness – exclusion of CLCN1 exon deletion/duplication by MLPA [Lehmann-Horn 2011]
- Role in fast inactivation of the IV/S4-S5 loop of the human muscle Nae channel probed by cysteine mutagenesis [Lerche 1997]
- Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel [Mitrovic 1995]
- Role in fast inactivation of conserved amino acids in the IV/S4-S5 loop of the human muscle Na + channel [Mitrovic 1996]
- Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence [Mohammadi 2005]
- A human muscle Na+ channel mutation in the voltage sensor IVÃS4 affects channel block by the pentapeptide KIFMK [Peter 1999]
- Cooperative effect of S4‐S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel [Popa 2004]
- Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel Diseases [Rudel 1993]
- A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity [Wagner 1997]
- In vivo Sodium channel Structure/function Studies: Consecutive Arg1448 Changes to Cys, His and Pro at the Extracellular Surface of IVS4 [Wang 1995]
- Muscle Na+ channelopathies – MRI detects intracellular 23Na+ accumulation during episodic weakness [Weber 2006]
- Local calcium signals induced by hyper-osmotic stress in mammalian skeletal muscle cells [Apostol 2009]
- Regulation of the purified Ca 2+ release channel/ryanodine receptor complex of skeletal muscle sarcoplasmic reticulum by luminal calcium [Hermann 1996]
- The impact of splice isoforms on voltage-gated calcium channel α1 subunits [Jurkat-Rott 2004]
- Altered Calcium Currents in Human Hypokalemic Periodic Paralysis Myotubes Expressing Mutant L-type Calcium Channels [Lehmann-Horn 1995]
- Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis [Lerche 1996]
- On identification of Na+ channel gating schemes using moving-average ®ltered hidden Markov models [Michalek 1999]
- Genomic Structure and Functional Expression of a Human a2/d Calcium Channel Subunit Gene (CACNA2) [Schleithoff 1999]
- Voltage-Activated Calcium Signals in Myotubes Loaded with High Concentrations of EGTA [Schuhmeier 2003]
- External Tetraethylammonium As a Molecular Caliper for Sensing the Shape of the Outer Vestibule of Potassium Channels [Bretschneider 1999]
- K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks [Jurkat-Rott 2009]
- Membrane currents in human intercostal muscle at varied extracellular potassium [Kwiecinski 1984]
- The resting membrane parameters of human intercostal muscle at low, normal and high extracellular potassium [Kwiecinski 1984]
- A Reduced K+ Current due to a Novel Mutation in KCNQ2 Causes Neonatal Convulsions [Lerche 1999]
- Selective blockage of Kv1.3 and Kv3.1 channels increases neural progenitor cell proliferation [Liebau 2006]
- Cromakalim, pinacidil and RP 49356 activate a tolbutamide-sensitive K+ conductance in human skeletal muscle fibres [Quasthoff 1989]
- K + channel openers suppress myotonic activity of human skeletal muscle in vitro [Quasthoff 1990]
- The human Ca2+-activated K+ channel, IK, can be blocked by the tricyclic antihistamine promethazine [Wittekindt 2006]
- Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Clchannel 1 gene dosage [Chen 1997]
- Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion [Heine 1994]
- The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia [Koch 1992]
- Novel Muscle Chloride Channel Mutations and Their Effects on Heterozygous Carriers [Mailander 1996]
- Chlorine (35Cl) Magnetic Resonance Imaging of the Human Brain and Muscle [Nagel 2012]
- In Vivo 35Cl MR Imaging in Humans: A Feasibility Study [Nagel 2014]
- The dominant Chloride channel mutant G200R causing fluctuating Myotonia: Clinical findings, Electrophysiology and Channel Pathology [Wagner 1998]
- Overexcited or Inactive: Ion Channels in Muscle Disease [Hoffman 1995]
- Teaching course: ion channelopathies in neurology [Jurkat-Rott 1999]
- Human muscle voltage-gated ion channels and hereditary disease [Jurkat-Rott 2001]
- Skeletal muscle channelopathies [Jurkat-Rott 2002]
- Ion Channels and Electrical Properties of Skeletal Muscle [Jurkat-Rott 2004]
- Electrophysiology and molecular pharmacology of muscle channelopathies [Jurkat-Rott 2004]
- The Patch Clamp Technique in Ion Channel Research [Jurkat-Rott 2004]
- Muscle channelopathies and critical points in functional and genetic studies [Jurkat-Rott 2005]
- Ion channels and ion transporters of the transverse tubular system of skeletal muscle [Jurkat-Rott 2006]
- Hereditary Channelopathies in Neurology [Jurkat-Rott 2010]
- State of the art in hereditary muscle channelopathies [Jurkat-Rott 2010]
- Pathophysiological role of omega pore current in channelopathies [Jurkat-Rott 2012]
- Molecular Pathophysiology of Voltage-Gated Ion Channels [Lehmann-Horn 1996]
- Channelopathies: The Nondystrophic Myotonias and Periodic Paralyses [Lehmann-Horn 1995]
- Channelopathies: Their Contribution to Our Knowledge About Voltage-Gated Ion Channels [Lehmann-Horn 1997]
- Voltage-Gated Ion Channels and Hereditary Disease [Lehmann-Horn 1999]
- Skeletal muscle channelopathies: myotonias, periodic paralyses and malignant hyperthermia [Lehmann-Horn 2003]
- Characterization of the high-conductance Ca 2+-activated K + channel in adult human skeletal muscle [Lerche 1995]
- 3 Tesla Sodium Inversion Recovery Magnetic Resonance Imaging Allows for Improved Visualization of Intracellular Sodium Content Changes in Muscular Channelopathies [Nagel 2011]
- An Apamin- and Scyllatoxin-Insensitive Isoform of the Human SK3 Channel [Wittekindt 2004]
- Hyperkalemic Periodic Paralysis and Permanent Weakness: 3-T MR Imaging Depicts Intracellular Na Overload – Initial Results [Amateifio 2012]
- Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals [Charles 2013]
- Genotype-Phenotype Correlation and Therapeutic Rationale in Hyperkalemic Periodic Paralysis [Jurkat-Root2007]
- Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17 [Koch 1991]
- Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17 [Koch 1991]
- Hyperkalemic Periodic Paralysis – Understanding Channelopathies [Lehmann-Horn 2002]
- Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis [Weckbecker 2000]
- Enhancement of K+ conductance improves in Vitro the contraction force of skeletal muscle in Hypokalemic Periodic Paralysis [Grafe 1990]
- NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery [Groome 2014]
- A calcium channel mutation causing hypokalemic periodic paralysis [Jurkat-Rott 1994]
- Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current [Jurkat-Rott 2000]
- Do Hyperpolarization-induced Proton Currents Contribute to the Pathogenesis of Hypokalemic Periodic Paralysis, a Voltage Sensor Channelopathy? [Jurkat-Rott 2007]
- Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients [Kuhn 2016]
- Enhanced inactivation and pH sensitivity of Na+ channel mutations causing hypokalaemic perioc paralysis type II [Kuzmenkin 2002]
- Progressive muscle atrophy with Hypokalemic Periodic Paralysis and calcium Channel mutation [Meyer 2008]
- Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP) [Plassart 1994]
- Hypokalemic Periodic Paralysis: In Vitro investigation of muscle membrane parameters [Rudel 1984]
- Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes [Sipos 1995]
- Hypokalaemic periodic paralisys type 2 by mutations at codon 672 in the miscle sodium channel gene SCN4A [Sternberg 2001]
- SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide [Venance 2004]
- Hypokalemic Periodic Paralysis Induced by Thymic Hyperplasia and Relieved by Thymectomy [Yang 2013
- Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav1.4 cause periodic paralysis [Fan 2017]
- Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation [Groome 2014]
- Periodic paralysis mutation MiRP2-R83H in controls [Jurkat-Rott 2004]
- Paroxysmal muscle weakness – the familial periodic paralyses [Jurkat-Rott 2004]
- Are myotonias and Periodic Paralysis Associated with susceptibility to malignant Hyperthermia? [Lehmann-Horn 1990]
- Non-Dystrophic Myotonias and Periodic Paralyses [Lehmann-Horn 1993]
- Periodic Paralysis: Understanding Channelopathies [Lehmann-Horn 2002]
- 7-T 35Cl and 23Na MR Imaging for Detection of Mutationdependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses [Weber 2016]
- Altered Na+ Channel activity and rduced CI- conductance cause by perexitability in recessive generalized Myotonia (BECKER) [Franke 1991]
- Confirmation of the Type 2 Myotonic Dystrophy (CCTG)n Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect [Bachinski 2003]
- Myotonia in DNM2-related centronuclear myopathy [Dabby 2014]
- Chronic Myopathy In A Patient Suspected Of Carrying Two Malignant Hyperthermia Susceptibility (Mhs) Mutations [Deufel 1992]
- Transient Weakness And Compound Muscle Action Potential Decrement In Myotonia Congenita [Deymeer 1998]
- Electrical Myotonia In Heterozygous Carriers Of Recessive Myotonia Congenita [Deymeer 1999]
- Characteristics Of Na+ Channels And Cl- Conductance In Resealed Muscle Fibre Segments From Patients With Myotonic Dystrophy [Franke 1990]
- A Novel SCN4A Mutation Causing Myotonia Aggravated By Cold And Potassium [Heine 1993]
- The Correlation Between Electrical After-Activity And Slowed Relaxation In Myotonia [Iazzo 1990]
- Altered Sodium Channel Behaviour Causes Myotonia In Dominantly Inherited Myotonia Congenita [Iazzo 1991]
- Muskulare Kanalopathien – Myotonien Und Periodische Paralysen [Jurkat-Rott 2011]
- Muscle Channelopathies: Myotonias And Periodic Paralyses [Jurkat-Rott 2011]
- Dystrophia Myotonica – Eine Haufig Verkannte Krankheid [Kuhn 1990]
- Drug-Induced Myotonia In Human Intercostal Muscle [Kwiecinski 1988]
- Adynamia Eplsodlca Hereditaria With Myotonia: A Non-Inactivating Sodium Current And The Effect Of Extracellular Ph [Lehmann-Horn 1987]
- Myotonia Levior Is A Chloride Channel Disorder [Lehmann-Horn 1995]
- Myotonic Disorders [Lehmann-Horn 2007]
- Myotonia Permanens With Nav1.4-G1306e Displays Varied Phenotypes During Course Of Life [Lehmann-Horn 2017]
- K+-Aggravated Myotonia: Destabilization Of The Inactivated State Of The Human Muscle Na+ Channel By The V1589m Mutation [Mitrovic 1994]
- Familial Cramp Due To Potassium-Aggravated Myotonia [Orrell 1998]
- Myotonia Fluctuans [Ricker 1990]
- Myotonia Fluctuans – A Third Type Of Muscle Sodium Channel Disease [Ricker 1994]
- Proximal Myotonic Myopathy – A New Dominant Disorder With Myotonia, Muscle Weakness, And Cataracts [Ricker 1994]
- Proximal Myotonic Myopathy – Clinical Features Of A Multisystem Disorder Similar To Myotonic Dystrophy [Ricker 1995]
- Membrane Changes In Cells From Myotonia Patients [Rudel 1985]
- Transient Weakness And Altered Membrane Characteristic In Recessive Generalized Myotonia (Becker) [Rudel 1988]
- Painful Cramps And Giant Myotonic Discharges In A Family With The Nav1.4-G1306a Mutation [Torbergsen 2015]
- Uber Die Beziehung Zwischen Der Elektrischen Und Mechanischen Muskelaktivitat Bei De Myotonie [Wagner 1990]
- Comparative Analysis Of Brain Structure, Metabolism, And Cognition In Myotonic Dystrophy 1 And 2 [Weber 2010]
- Disease-Causing Mutations C277r And C277y Modify Gating Of Human Clc-1 Chloride Channels In Myotonia Congenita [Weinberger 2012]
- A Becker Myotonia Patient With Compound Heterozygosity For Clcn1 Mutations And Prinzmetal Angina Pectoris [Zielonka 2012]
- Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita [Fleischhauer 1998]
- Clinical study of Paramyotonia Congenita with and without Myotonia in a warm environment [Haass 1981]
- In Vivo P-NMR Spectroscopy: Muscle energy exchange in Paramyotonia patients [Lehmann-Horn 1987]
- Membrane defects in Paramyotonia Congenita (EULENBURG) [Lehmann-Horn 1987]
- Parmyotonia Congenita: The RM8P Na’ Channel Mutagon in Adult Human Skeletal Muscle [Lerche 1996]
- Mutant channels contribute <50% to Na1 current in paramyotonia congenita muscle [Mitrovic 1999]
- Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V [Mohammadi 2003]
- Muscle Stiffness and Electrical Activity in Paramyotonia Congenta [Ricker 1986]
- Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995 [Rudel 1997]
- Evaluation of Patients with Paramyotonia at 23Na MR Imaging during Cold-induced Weakness [Weber 2006]
- Fernabfragesystem Zur Ermittlung zentral gespeicherter Daten von Patienten mit Verdacht auf Maligne Hyperthermie [Baur 1998]
- Xenon does not induce contracture in human malignant hyperthermia musclet [Baur 2000]
- A Multicenter Study of 4-Chloro-m-cresol for Diagnosing Malignant Hyperthermia Susceptibility [Baur 2002]
- A linkage study of malignant hyperthermia (MH) [Bender 1990]
- Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test [Brandt 1999]
- Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes [Brinkmeier 1999]
- Discordance, in a Malignant Hyperthermia Pedigree, between In Vitro Contracture-Test Phenotypes and Haplotypes for the MHS I Region on Chromosome 1 9q 1 2-13.2, Comprising the C I 840T Transition in the RYR I Gene [Deufel 1995]
- Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca2+ release [Dietze 2000]
- Die regionale Verbreitung der Veranlagung zur Malignen Hyperthermie in Deutschland: Stand 1997 [Hartung 1997]
- 4 Chloro-m cresol: A Specific Tool to Distinguish Between Malignant Hyperthermia-Susceptible and Normal Muscle [Hermann-Frank 1996]
- In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita [Hoppe 2013]
- Contractile elements in muscular fascial tissue ‐ implications for in-vitro contracture testing for malignant hyperthermia [Hoppe 2014]
- Hypermetabolism in B‐lymphocytes from malignant hyperthermia susceptible individuals [Hoppe 2016]
- Life-Threatening Hyperthermie Syndromes [Hund 1994]
- Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs [Iaizzi 1988]
- Malignant Hyperthermia: Effects of Halotane on the surface membrane [Iaizzo 1989]
- The in Vitro determination of susceptability to Malignant Hyperthermia [Iaizzo 1989]
- Localization of the gene encoding the a2/6-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families [Iles 1994]
- Genetics and Pathogenesis of Malignant Hyperthermia [Jurkat-Rott 2000]
- Diagnose der Anlage zu Maligner Hyperthermie mit Hilfe des in vitro-Kontrakturtests [Klein 1986]
- Core Myopathies and Risk of Malignant Hyperthermia [Klinger 2009]
- Detection of Proton Release from Cultured Human Myotubes to Identify Malignant Hyperthermia Susceptibility [Klinger 2002]
- Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study [Klinger 2014]
- Neuromuscular Disorders and Malignant Hyperthermia [Lehmann-Horn 1996]
- Nonanesthetic Malignant Hyperthermia [Lehmann-Horn 2011]
- Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2 [McCarthy 1990]
- Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant-hyperthermia-susceptible muscle [O’Driscoll 1996]
- In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low-risk subjects [Ording 1997]
- Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia [Quane 1997]
- Functional Characterization of a Distinct Ryanodine Receptor Mutation in Human Malignant Hyperthermia-susceptible Muscle [Richter 1997]
- Characterization of swine susceptible to malignant hyperthermia by in uiuo, in uitro and post-mortem techniques [Seewald 1991]
- Voltage-Dependent Calcium Release in Human Malignant Hyperthermia Muscle Fibers [Struk 1998]
- Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus On chromosome 17q and of the alfa1, beta1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect [Sudbrak 1993]
- Mapping of a Further Malignant Hyperthermia Susceptibility Locus to Chromosome 3q 1 3.1 [Sudbrak 1995]
- Multicentre evaluation of in vivo contracture testing with bolus administration of 4-chloro-m-cresol for diagnosis of malignant hyperthermia susceptability [Wappler 2003]
- Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation [Zafeiriou 2009]
- 23Na MRI and myometry to compare eplerenone vs. glucocorticoid treatment in Duchenne dystrophy [Glemser 2017]
- The role of fibrosis in Duchenne muscular dystrophy [Klinger 2012]
- Rationale for treating oedema in Duchenne muscular dystrophy with eplerenone [Lehmann-Horn 2012]
- Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12-q12 in 14 Families [Weber 2004]
- Sodium (23Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy [Weber 2011]
- Permanent muscular sodium overload and persistent muscle edema in Duchenne muscular dystrophy: a possible contributor of progressive muscle degeneration [Weber 2012]
- Generalized epilepsy with febrile seizures plus [Lerche 2001]
- Ion Channels and Epilepsy [Lerche 2001]
- Ion Channel Defects in Idiopathic Epilepsies [Lerche 2005]
- PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures [Schubert 2012]
- Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes [Schubert 2014]
- Neutralization of a negative charge in the S1‐S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy [Wuttke 2008]
- EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases First of two parts [Gasser 2001]
- EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases Second of two parts [Gasser 2001]
- Differential Diagnosis of Periodic Paralysis aided by in Vitro Myography [Iaizzo 1995]
- Diagnostics and Therapy of Muscle Channelopathies ‐ Guidelines of the Ulm Muscle Centre [Lehmann-Horn 2008]
- Sight: automating genomic data-mining without programming skills [Meskauskas 2004]
- Towards the Automated Generation of Expert Profiles for Rare Diseases through Bibliometric Analysis [Pflugrad 2014]
- Successful treatment of periodic paralysis with coenzyme Q10: two case reports [Da 2016]
- NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers [Bayless-Edwards 2018]
- Eplerenone repolarizes muscle membrane through Na,K-ATPase activation by Tyr10 dephosphorylation [Breitenbach 2016]
- Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1) [Bretschneider 1999]
- Force assessment in periodic paralysis after electrical muscle stimulation [Day 2002]
- Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II [Dreier 2005]
- Recovery of mechano-electrical transduction in rat cochlear hair bundles after postnatal destruction of the stereociliar cross-links [Ebert 2010]
- Membrane excitability and excitation‐contraction uncoupling in muscle fatigue [Fauler 2012]
- Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval [Fpontaine 1996]
- Molekulare Diagnostik erblicher neurologischer Erkrankungen [Gasser 2000]
- A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle [Gouadon 2006]
- 4-chloro-m-cresol, a potent and specific activator of the skeletal muscle ryanodine receptor [Hermann-Frank 1996]
- Activation and labelling of the purified skeletal muscle ryanodine receptor by an oxidized ATP analogue [Hohenegger 1995]
- Activation of the Skeletal Muscle Ryanodine Receptor by Suramin and Suramin Analogs [Hohenegger 1996]
- The use of Fura- to estimate myoplasmic [Ca2+] in human skeletal muscle [Iaizzo 1989]
- Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor K1 subunits (R528H) [Jurkat-Rott 1998]
- Reviewing in science requires quality criteria and professional reviewers [Jurkat-Rott 2004]
- Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study [Kassubek 2003]
- Evidence for Linkage of the Central Core Disease Locus to the Proximal Long Arm of Human Chromosome 19 [Kausch 1991]
- 3,4-Methylenedioxymethamphetamine (Ecstasy) Activates Skeletal Muscle Nicotinic Acetylcholine Receptors [Klingler 2005]
- Two cases of Adynamia Episodica Hereditaria:: In Vitro investigation ofo Muscle cell membrane and Contraction parameters [Lehmann-Horn 1983]
- Resealed Fiber Segments for the study of the Pathophysiology of Human Skeletal Muscle [Lehmann-Horn 1990]
- Hereditary nondystrophic myotonias and periodic paralyses [Lehmann-Horn 1995]
- Disease-causing mutations or functional polymorphisms [Lehmann-Horn 2002]
- Nanotechnology for neuronal ion channels [Lehmann-Horn 2003]
- Motorische Systeme [Lehmann-Horn 2007]
- Neuromuscular Transmission in the mdx mouse [Nagel 1990]
- Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia) [Nicole 2000]
- 3D Radial Projection Technique With Ultrashort Echo Times for Sodium MRI: Clinical Applications in Human Brain and Skeletal Muscle [Nielles-Vallespin 2007]
- Adynamia Episodica Hereditaria: What causes the weakness [Ricker 1989]
- Active contraction of the Thoracolumbar Fascia- indications of a new factor in low back pain research with implicationsfor manual therapy [Schleip 2004]
- Active fascial contractility: Fascia may be able to contract in a smooth muscle-like manner and thereby influence musculoskeletal dynamics [Schleip 2005]
- Passive muscle stiffness may be influenced by active contractility of intramuscular connective tissue [Schleip 2006]
- Letter to the Editor concerning “A hypothesis of chronic back pain: ligament subfailure injuries lead to muscle control dysfunction” (M. Panjabi) [Schleip 2007]
- Strain hardening of fascia: Static stretching of dense fibrous connective tissues can induce a temporary stiffness increase accompanied by enhanced matrix hydration [Schleip 2012]
- Multipoint Mapping of the Central Core Disease Locus [Schwemmle 1993]
- Cromakalim (BRL 34915) restores in vitro the membrane potential of depolarized human skeletal muscle fibres [Spuler 1989]
- A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias [Strupp 2011]
- Effect of Stereoencephalotomy on Long Latency EMG Responses and Motor Control of Arm Movements in Parkinson’s Syndrome [Struppler 1984]
- Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation [Synofzik 2011]
- GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak [Weber 2008]
- A Novel Non-Neuronal hSK3 Isoform with a Dominant-Negative Effect on hSK3 Currents [Wittekindt 2004]
- Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations [Wuttke 2007]
- Visuell evozierte Potentiale bei der Alzheimerschen und Parkinsonschen Krankheit [Zimmer 1990]
- Functional Characterization of Ryanodine Receptor (RYR1) Sequence Variants Using a Metabolic Assay in Immortalized B-Lymphocytes [Zullo 2009]
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