Franke Lehmann‐horn
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(Suggest an Edit or Addition)Franke Lehmann‐horn's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- The skeletal muscle chloride channel in dominant and recessive human myotonia. (1992) (689)
- Voltage-gated ion channels and hereditary disease. (1999) (519)
- GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. (2008) (324)
- Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2 (1990) (313)
- A calcium channel mutation causing hypokalemic periodic paralysis. (1994) (312)
- Genetics and pathogenesis of malignant hyperthermia (2000) (282)
- Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. (2000) (260)
- 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 (1997) (249)
- Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families (1994) (225)
- Membrane changes in cells from myotonia patients. (1985) (216)
- Active fascial contractility: Fascia may be able to contract in a smooth muscle-like manner and thereby influence musculoskeletal dynamics. (2005) (208)
- Proximal myotonic myopathy (1994) (199)
- Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. (2001) (198)
- Adynamia episodica hereditaria with myotonia: A non‐inactivating sodium current and the effect of extracellular pH (1987) (179)
- Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters (1984) (176)
- 3D radial projection technique with ultrashort echo times for sodium MRI: Clinical applications in human brain and skeletal muscle (2007) (176)
- The role of fibrosis in Duchenne muscular dystrophy (2012) (170)
- K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks (2009) (160)
- A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias (2011) (159)
- 4-Chloro-m-cresol, a potent and specific activator of the skeletal muscle ryanodine receptor. (1996) (158)
- Localization of the gene encoding the alpha 2/delta-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. (1994) (157)
- Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants (2004) (156)
- Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. (1995) (152)
- Myotonia fluctuans. A third type of muscle sodium channel disease. (1994) (152)
- Sodium channelopathies of skeletal muscle result from gain or loss of function (2010) (150)
- Passive muscle stiffness may be influenced by active contractility of intramuscular connective tissue. (2006) (148)
- Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. (1990) (144)
- 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. (2003) (136)
- Overexcited or inactive: Ion channels in muscle disease (1995) (133)
- A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions (1999) (133)
- A novel SCN4A mutation causing myotonia aggravated by cold and potassium. (1993) (130)
- Skeletal muscle channelopathies (2002) (124)
- Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. (1999) (121)
- Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations (2007) (112)
- Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2 (2010) (111)
- K(+)‐aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation. (1994) (110)
- A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs (2004) (109)
- Membrane defects in paramyotonia congenita (eulenburg) (1987) (109)
- Different effects on gating of three myotonia‐causing mutations in the inactivation gate of the human muscle sodium channel. (1995) (108)
- Complications of anaesthesia in neuromuscular disorders (2005) (104)
- Non-dystrophic myotonias and periodic paralyses A European Neuromuscular Center Workshop held 4–6 October 1992, Ulm, Germany (1993) (103)
- Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? (1990) (101)
- Muscle channelopathies and critical points in functional and genetic studies. (2005) (100)
- Two cases of adynamia episodica hereditaria: In vitro investigation of muscle cell membrane and contraction parameters (1983) (99)
- Paramyotonia congenita: The R1448P Na+ channel mutation in adult human skeletal muscle (1996) (97)
- Membrane defects in paramyotonia congenita with and without myotonia in a warm environment (1981) (96)
- Ion channels and epilepsy. (2001) (96)
- PRRT2 Mutations are the major cause of benign familial infantile seizures (2012) (95)
- 3 Tesla Sodium Inversion Recovery Magnetic Resonance Imaging Allows for Improved Visualization of Intracellular Sodium Content Changes in Muscular Channelopathies (2011) (91)
- Strain hardening of fascia: static stretching of dense fibrous connective tissues can induce a temporary stiffness increase accompanied by enhanced matrix hydration. (2012) (90)
- Functional Characterization of a Distinct Ryanodine Receptor Mutation in Human Malignant Hyperthermia-susceptible Muscle* (1997) (89)
- Characteristics of Na+ channels and Cl‐ conductance in resealed muscle fibre segments from patients with myotonic dystrophy. (1990) (88)
- Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II (2005) (87)
- Molecular pathophysiology of voltage-gated ion channels. (1996) (85)
- A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity (1997) (84)
- Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker) (1988) (82)
- Role in fast inactivation of the IV/S4–S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis (1997) (82)
- Myotonia levior is a chloride channel disorder. (1995) (82)
- Ion channel defects in idiopathic epilepsies. (2005) (81)
- Core Myopathies and Risk of Malignant Hyperthermia (2009) (79)
- Hereditary nondystrophic myotonias and periodic paralyses. (1995) (79)
- Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II. (2002) (78)
- Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. (1995) (74)
- Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man (2001) (74)
- Genotype-Phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis (2007) (71)
- Sodium (23Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy (2011) (70)
- Novel muscle chloride channel mutations and their effects on heterozygous carriers. (1996) (70)
- Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. (1994) (64)
- Schwartz–Jampel syndrome: II. Na+ channel defect causes myotonia (1990) (64)
- Selective blockage of Kv1.3 and Kv3.1 channels increases neural progenitor cell proliferation (2006) (64)
- Andersen–Tawil syndrome (2005) (63)
- The impact of splice isoforms on voltage‐gated calcium channel α1 subunits (2004) (62)
- Pathophysiological Role of Omega Pore Current in Channelopathies (2012) (62)
- Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor α1 subunits (R528H) (1998) (62)
- 4-Chloro-m-cresol: a specific tool to distinguish between malignant hyperthermia-susceptible and normal muscle. (1996) (61)
- Adynamia episodica hereditaria: What causes the weakness? (1989) (61)
- Permanent muscular sodium overload and persistent muscle edema in Duchenne muscular dystrophy: a possible contributor of progressive muscle degeneration (2012) (59)
- Periodic paralysis: Understanding channelopathies (2002) (59)
- Transient weakness and compound muscle action potential decrement in myotonia congenita (1998) (58)
- Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study (2003) (58)
- Muscle Na+ channelopathies (2006) (56)
- Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca2+ release (2000) (56)
- Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes. (1995) (55)
- Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study (2014) (55)
- The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology, and channel pathology (1998) (54)
- Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. (1993) (53)
- Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre. (2008) (52)
- Ion channels and ion transporters of the transverse tubular system of skeletal muscle (2006) (50)
- NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery (2014) (49)
- Drug‐induced myotonia in human intercostal muscle (1988) (49)
- In vivo 35Cl MR imaging in humans: a feasibility study. (2014) (47)
- Fascia is able to contract in a smooth muscle-like manner and thereby influence musculoskeletal mechanics (2006) (47)
- Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation (2011) (47)
- An apamin- and scyllatoxin-insensitive isoform of the human SK3 channel. (2004) (46)
- A Multicenter Study of 4-Chloro-m-cresol for Diagnosing Malignant Hyperthermia Susceptibility (2000) (46)
- Periodic paralysis mutation MiRP2-R83H in controls (2004) (46)
- Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs (1988) (45)
- Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload--initial results. (2012) (45)
- Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita (1998) (45)
- Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families (2004) (45)
- Paroxysmal muscle weakness - the familial periodic paralyses (2006) (45)
- Generalized epilepsy with febrile seizures plus (2001) (44)
- Xenon does not induce contracture in human malignant hyperthermia muscle. (2000) (42)
- Chloride conductance in mouse muscle is subject to post‐transcriptional compensation of the functional Cl− channel 1 gene dosage (1997) (41)
- Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17. (1991) (40)
- Early-onset familial hemiplegic migraine due to a novel SCN1A mutation (2016) (40)
- Familial cramp due to potassium-aggravated myotonia (1998) (39)
- Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. (1997) (39)
- Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita (1991) (39)
- Cooperative effect of S4–S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel (2004) (38)
- Role in fast inactivation of conserved amino acids in the IV/S4-S5 loop of the human muscle Na+ channel (1996) (38)
- Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals (2013) (38)
- Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the α1, β1, and γ subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect (1993) (38)
- Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V (2003) (38)
- Altered Na+ channel activity and reduced Cl− conductance cause hyperexcitability in recessive generalized myotonia (becker) (1991) (38)
- Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation (2013) (38)
- Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant-hyperthermia-susceptible muscle. (1996) (37)
- The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits. (2004) (36)
- Hereditary channelopathies in neurology. (2010) (36)
- Letter to the Editor concerning “A hypothesis of chronic back pain: ligament subfailure injuries lead to muscle control dysfunction” (M. Panjabi) (2007) (36)
- Human muscle voltage-gated ion channels and hereditary disease. (2001) (36)
- The use of Fura-2 to estimate myoplasmic [Ca2+] in human skeletal muscle. (1989) (34)
- Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weakness. (2006) (34)
- Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B‐lymphocytes (2009) (33)
- Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence* (2005) (32)
- Activation of the skeletal muscle ryanodine receptor by suramin and suramin analogs. (1996) (32)
- Disease‐causing mutations C277R and C277Y modify gating of human ClC‐1 chloride channels in myotonia congenita (2012) (32)
- Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8 – 10 December 1995 (1997) (32)
- 3,4-Methylenedioxymethamphetamine (Ecstasy) Activates Skeletal Muscle Nicotinic Acetylcholine Receptors (2005) (32)
- A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs (2005) (31)
- 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 (1996) (30)
- Electrical myotonia in heterozygous carriers of recessive myotonia congenita (1999) (30)
- The patch clamp technique in ion channel research. (2004) (30)
- Neutralization of a negative charge in the S1–S2 region of the KV7.2 (KCNQ2) channel affects voltage‐dependent activation in neonatal epilepsy (2008) (30)
- Anesthetic complications in muscle disorders. (1995) (29)
- Voltage-dependent calcium release in human malignant hyperthermia muscle fibers. (1998) (29)
- Voltage-activated calcium signals in myotubes loaded with high concentrations of EGTA. (2003) (29)
- Local calcium signals induced by hyper-osmotic stress in mammalian skeletal muscle cells (2009) (29)
- K+ channel openers suppress myotonic activity of human in vitro (1990) (28)
- The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients (2012) (28)
- Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle. (1999) (28)
- Channelopathies: the nondystrophic myotonias and periodic paralyses. (1996) (27)
- Rationale for treating oedema in Duchenne muscular dystrophy with eplerenone (2012) (27)
- Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis (2000) (27)
- External tetraethylammonium as a molecular caliper for sensing the shape of the outer vestibule of potassium channels. (1999) (27)
- Muscle stiffness and electrical activity in paramyotonia congenita (1986) (26)
- The in vitro determination of susceptibility to malignant hyperthermia (1989) (25)
- Nonanesthetic malignant hyperthermia. (2011) (24)
- MANGANESE deficiency. (2022) (24)
- SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide (2004) (23)
- Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel (2003) (23)
- Open- and closed-state fast inactivation in sodium channels (2011) (23)
- Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels. (1995) (22)
- On identification of Na+ channel gating schemes using moving-average filtered hidden Markov models (1999) (22)
- Do Hyperpolarization-induced Proton Currents Contribute to the Pathogenesis of Hypokalemic Periodic Paralysis, a Voltage Sensor Channelopathy? (2007) (21)
- Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17 (1991) (21)
- EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases First of two parts (2001) (21)
- Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes. (1999) (21)
- 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. (2016) (21)
- 3 D Radial Projection Technique With Ultrashort Echo Times for Sodium MRI : Clinical Applications in Human Brain and Skeletal Muscle (2006) (20)
- A possible role of the junctional face protein JP‐45 in modulating Ca2+ release in skeletal muscle (2006) (20)
- Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP) (1994) (20)
- Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis (2005) (19)
- Altered stress stimulation of inward rectifier potassium channels in Andersen‐Tawil syndrome (2012) (19)
- In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. (1995) (18)
- Nanotechnology for neuronal ion channels (2003) (18)
- Cromakalim (BRL 34915) restores in vitro the membrane potential of depolarized human skeletal muscle fibres (2004) (18)
- Regulation of the purified Ca2+ release channel/ryanodine receptor complex of skeletal muscle sarcoplasmic reticulum by luminal calcium (1996) (18)
- Channelopathies: Their Contribution to Our Knowledge About Voltage-Gated Ion Channels (1997) (18)
- Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life. (2017) (18)
- State of the art in hereditary muscle channelopathies (2010) (18)
- Erratum: Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current (Proceedings of National Academy of Sciences of the United States of America (Aug. 15, 2000) 97(17) (9549-9554)) (2000) (17)
- Two mutations in the IV/S4-S5 segment of the human skeletal muscle Na+ channel disrupt fast and enhance slow inactivation (2001) (17)
- In vivo P‐NMR spectroscopy: Muscle energy exchange in paramyotonia patients (1985) (16)
- Genomic structure and functional expression of a human α2/δ calcium channel subunit gene (CACNA2) (1999) (16)
- Generalized epilepsy with febrile seizures plus: Further heterogeneity in a large family (2001) (16)
- Sodium ( 23 Na ) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy (2012) (16)
- Multicentre evaluation of in vitro contracture testing with bolus administration of 4-chloro-m-cresol for diagnosis of malignant hyperthermia susceptibility (2003) (16)
- 23Na MRI and myometry to compare eplerenone vs. glucocorticoid treatment in Duchenne dystrophy (2017) (15)
- A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA (2011) (15)
- Characterization of swine susceptible to malignant hyperthermia by in vivo, in vitro and post‐mortem techniques (1991) (15)
- Differential diagnosis of periodic paralysis aided by in vitro myography (1995) (15)
- Membrane excitability and excitation–contraction uncoupling in muscle fatigue (2012) (14)
- 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. (2016) (14)
- Detection of Proton Release from Cultured Human Myotubes to Identify Malignant Hyperthermia Susceptibility (2002) (13)
- A diamond-on-silicon patch-clamp-system (2005) (13)
- In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita (2013) (13)
- Contractile elements in muscular fascial tissue – implications for in‐vitro contracture testing for malignant hyperthermia (2014) (13)
- Neuromuscular Disorders and Malignant Hyperthermia (1996) (13)
- Cromakalim, pinacidil and RP 49356 activate a tolbutamide-sensitive K+ conductance in human skeletal muscle fibres (2004) (13)
- Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. (1993) (13)
- Hypermetabolism in B–lymphocytes from malignant hyperthermia susceptible individuals (2016) (12)
- Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients (2015) (12)
- Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2). (1999) (12)
- Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. (2009) (12)
- K+ channel openers suppress myotonic activity of human skeletal muscle in vitro. (1990) (12)
- The human Ca2+-activated K+ channel, IK, can be blocked by the tricyclic antihistamine promethazine (2006) (11)
- The correlation between electrical after‐activity and slowed relaxation in myotonia (1990) (11)
- EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases Second of two parts (2001) (11)
- Sight: automating genomic data-mining without programming skills (2004) (11)
- Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation (2019) (11)
- A human muscle Na+ channel mutation in the voltage sensor IV/S4 affects channel block by the pentapeptide KIFMK (1999) (10)
- ACTIVE CONTRACTION OF THE THORACOLUMBAR FASCIA - INDICATIONS OF A NEW FACTOR IN LOW BACK PAIN RESEARCH WITH IMPLICATIONS FOR MANUAL THERAPY (2004) (10)
- NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers (2018) (10)
- [Anesthesia in neuromuscular disorders. Part 2: specific disorders]. (2002) (10)
- Force assessment in periodic paralysis after electrical muscle stimulation. (2002) (9)
- Myotonia in DNM2-related centronuclear myopathy (2014) (9)
- A linkage study of malignant hyperthermia (MH) (1990) (9)
- Disease-causing mutations or functional polymorphisms? (2004) (9)
- Effect of stereoencephalotomy on long-latency EMG responses and motor control of arm movements in Parkinson's syndrome. (1984) (9)
- [Anesthesia in neuromuscular disorders. Part 1: introduction]. (2002) (9)
- Hyperkalemic Periodic Paralysis (2016) (8)
- Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation (2008) (8)
- Painful cramps and giant myotonic discharges in a family with the Nav1.4‐G1306A mutation (2015) (8)
- Channelopathies : common mechanisms in aura, arrhythmia and alkalosis (2000) (8)
- Eplerenone repolarizes muscle membrane through Na,K-ATPase activation by Tyr10 dephosphorylation (2016) (7)
- Activation and labelling of the purified skeletal muscle ryanodine receptor by an oxidized ATP analogue. (1995) (7)
- Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav1.4 cause periodic paralysis (2017) (7)
- Towards the Automated Generation of Expert Profiles for Rare Diseases through Bibliometric Analysis (2014) (7)
- Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations (1992) (7)
- Teaching course: ion channelopathies in neurology (1999) (7)
- Characterization of the high-conductance Ca2+-activated K+ channel in adult human skeletal muscle (1995) (7)
- Familial acanthocytosis with paroxysmal exertion-induced dyskinesias and epilepsy (FAPED) (2004) (7)
- Muscle diseases relevant to the anesthetist. (1990) (6)
- Genomic Structure and Functional Expression of a Human a 2 / d Calcium Channel Subunit Gene ( CACNA 2 ) (1999) (6)
- A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia (2014) (6)
- Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation (2014) (6)
- Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation. (2008) (5)
- [Diagnosis of susceptibility to malignant hyperthermia using the in vitro contracture test]. (1987) (5)
- DRUG-INDUCED MYOTONIA IN INTERCOSTAL MUSCLE (1988) (5)
- [Regional distribution of predisposition to maligant hyperthermia in Germany: tate in 1997]. (1998) (5)
- Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G) (2019) (5)
- A Novel Non-Neuronal hSK3 Isoform with a Dominant-Negative Effect on hSK3 Currents (2004) (5)
- Muscle channelopathies. Myotonias and periodic paralyses (2011) (4)
- Na accumulation during episodic weakness (2006) (4)
- The role of fibrosisin Duchenne muscular dystrophy (2012) (4)
- Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation (2020) (4)
- [Dystrophia myotonica (Steinert disease)--a frequently misdiagnosed disease]. (1990) (4)
- Successful treatment of periodic paralysis with coenzyme Q10: two case reports (2016) (3)
- [Visual evoked potentials in Alzheimer's and Parkinson disease]. (1991) (3)
- gaetano conte prize lecture a gating model for wildtype and r 1448 H nav 1 . 4 channels in paramyotonia (2014) (3)
- MH-related Disorders - Neuromuscular diseases (2002) (3)
- Hypokalemic periodic paralysis induced by thymic hyperplasia and relieved by thymectomy. (2013) (3)
- Reviewing in science requires quality criteria and professional reviewers. (2004) (3)
- Recovery of mechano-electrical transduction in rat cochlear hair bundles after postnatal destruction of the stereociliar cross-links (2010) (3)
- Electrophysiology and molecular pharmacology of muscle channelopathies. (2004) (3)
- Malignant Hyperthermia: An Inherited Disorder of Muscle Calcium Metabolism (2015) (3)
- Chlorine ( 35 Cl ) MRI in Humans : Cl-Alterations do not Correspond to Disease-Related Na + Changes (2012) (3)
- in Vivo 35 cl Mr imaging in humans : A Feasibility Study 1 (3)
- Myofibroblast Density in Fasciae (2007) (2)
- Erratum: A G301R Na + /K + -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs (Neurogenetics (2004) 5 (177-185) DOI: org/10.1007/s10048-004-0183-2) (2005) (2)
- Periodic paralyses and myotonias (1997) (2)
- Principles of Electrophysiological In Vitro Measurements (2010) (2)
- weakness, and cataracts Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle (2010) (2)
- Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study (2018) (2)
- Skeletal Muscle Calcium Channel Mutation R528g: Enhanced Channel Inactivation and Omega-current At Hyperpolarization Contribute To Hypokalemic Periodic Paralysis. (2016) (2)
- [Molecular diagnosis of hereditary neurologic diseases. Position paper]. (2000) (2)
- Chapter 23 Skeletal muscle channelopathies: myotonias, periodic paralyses and malignant hyperthermia (2003) (2)
- Life-Threatening Hyperthermic Syndromes (1994) (2)
- On muscle stiffness in paramyotonia congenita (1983) (2)
- Low chloride conductance myotonia - in vitro investigations on muscle stiffness and the warm-up phenomenon (2007) (2)
- MRI in Muscle Channelopathies (2013) (2)
- A21 Altered calcium kinetics in skeletal muscle fibres of the R6/2 mouse model of HD (2010) (1)
- [Muscle channelopathies. Myotonias and periodic paralyses]. (2011) (1)
- [Ion channel diseases in neurology]. (1997) (1)
- Pierson syndrome (2020) (1)
- [A remote access system for inquiry of centrally stored data on patients suspected of malignant hyperthermia . A prototypical development for the Internet]. (1998) (1)
- State of the art in hereditarymuscle channelopathies (2010) (1)
- ADY NAMIA EPISODICA H EREDITARIA : WHAT CAUSES THE WEAKNESS ? (2004) (1)
- Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis (2018) (1)
- Novel Mutation of SCN1A in a German Family Presenting with both Hemiplegic Migraine and Epilepsy (2015) (1)
- Contractile Properties of Rat Fascia (2007) (1)
- IN VlTRO INVESTIGATION OF MUSCLE CELL MEMBRANE AND CONTRACTION PARAMETERS (2004) (1)
- 23 Na-MRI contrasts for application in muscular sodium channel diseases (2009) (1)
- Chapter 8 Sodium channelopathies in skeletal muscle and brain (2002) (1)
- Hereditary Muscle Channelopathies (2013) (1)
- Myotonic disorders. (2007) (1)
- Sarcolemmal Ion Channelopathies (2013) (1)
- Domain III S 4 in Closed-State Fast Inactivation : Insights from a Periodic Paralysis Mutation revision to MS # 2014 CHANNELS 0042 (2014) (1)
- THE CORRELATION BETWEEN SLOWED RELAXATION IN MYOTONIA ELECTRICAL AFTER-ACTIVITY AND (1990) (1)
- Myotonic Dystrophies, non-dystrophic Myotonia and periodic Paralysis (vol 45, pg 167, 2018) (2018) (1)
- ADYNAMIA EPlSODlCA HEREDITARIA SODIUM CURRENT AND THE EFFECT OF EXTRACELLULAR pH WITH MYOTONIA: A NON-INACTIVATING (1987) (1)
- Muscle Ion Channel Diseases (2000) (1)
- A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris (2012) (1)
- Hypokalemic Periodic Paralysis andtheDihydropyridine Receptor (CACNLIA3):Genotype/Phenotype Correlations forTwo Predominant Mutations andEvidence fortheAbsenceofa Founder Effect in16Caucasian Families (1995) (1)
- MYOYONIAS AND SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA (1991) (1)
- Table of known channelopathies (2000) (1)
- Familial cramp with a mutation of the adult skeletal muscle sodium channel a subunit gene: sodium channel myotonia. (1997) (0)
- Chloride channel mutations in proximal myotonic myopathy: implications for disease modulating effects. (2002) (0)
- Characterization of Hyperkalemic Periodic Paralysis: A Study of Genetically Diagnosed Individuals (P01.114) (2013) (0)
- Channelopathies in Epileptology (2011) (0)
- Markov and Eyring Modeling Predict Differential Contributions of Homologous Mutations in Hypokalemic Periodic Paralysis to Skeletal Muscle Fiber Excitability (2021) (0)
- Horn Alternative splicing of calcium channel CaV 1 . 1 (2007) (0)
- Characterization of a NaV1.4 Hypokalemic Periodic Paralysis Mutation in Domain I (2018) (0)
- The pH-dependent effect of mexiletine on IVS4 sodium channel mutants R1448H/C (2005) (0)
- Table 2. [Genotype-Phenotype Correlations in HyperPP]. (2016) (0)
- Passive muscle stiffness may be in uenced by active contractility of intramuscular connective tissue-post-print (2017) (0)
- Differential behaviour of Kv7.2 (KCNQ2) potassium channel mutants in neonatal epilepsy and peripheral nerve hyperexcitability (2007) (0)
- Effect Of Temperature On Slow Inactivation Of WT And R1448H Mutant Sodium Channels (2009) (0)
- Periodic Paralyses, Familial (2009) (0)
- Review in Muscle Nerve Genetics and pathogenesis of malignant hyperthermia (2009) (0)
- GLUT1 MUTATIONS IN PATIENTS WITH PAROXYSMAL EXERTION-INDUCED DYSKINESIA (2009) (0)
- Table 1. [Molecular Genetic Testing Used in Hyperkalemic Periodic Paralysis]. (2016) (0)
- Facets of acute myogenic tetraparesis (2010) (0)
- Malignant Hyperthermia and Neuroleptic Malignant Syndrome (2003) (0)
- Table 3. [SCN4A Variants Discussed in This GeneReview]. (2016) (0)
- Erfassung des myoplasmatischen Natriumgehalts von Patienten mit hyperkaliämischer periodischer Paralyse durch 3 T Magnetresonanztomographie (2012) (0)
- Society News Annual meetings of the DGNG 1996 : The third workshop Neurogenetics in Germany , and the second annual meeting of the DGNG was held in Ulm from October 10-12 , 1996 and organized by Professors (2001) (0)
- A Novel Cav1.1-K1245Q Mutation Leading to Hypokalemic Periodic Paralysis (2013) (0)
- Lehmann-Horn Functional characterization of KCNJ 2 mutations associated with Andersen-Tawil syndrome and atrial tachycardia (2007) (0)
- No evidence that xenon triggers malignant hyperthermia in humans (2000) (0)
- A rare Ca2+ channel mutation R528G identified in a patient with autosomal dominant hypokalemic periodic paralysis (HypoPP-1) (2008) (0)
- ICCN2010-NL1 Myotonias as channelopathies (2010) (0)
- Leaky glucose transporters cause paroxysmal exertion-induced dyskinesia with haemolytic anaemia and epilepsy (2007) (0)
- Investigating a Domain I Hypokalemic Periodic Paralysis Mutation in hNa V 1.4: A Computational Approach (2018) (0)
- What Causes Low-Temperature Exacerbation of Paramyotonia Congenita? (2005) (0)
- Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation (2020) (0)
- Retraction statement (2014) (0)
- Activation of the Na+/K+/2 Cl−-Cotransporter in Mammalian Skeletal Muscle (2009) (0)
- Hypokalemic Periodic Paralysis (1993) (0)
- Molecular genetics (1999) (0)
- S-6-1 Pathogenesis of hypokalemic periodic paralysis (1995) (0)
- Confirmation of Nonanesthetic-induced Malignant Hyperthermia Reply (2012) (0)
- Hypokalemic Periodic Paralysis Induced by ThymicHyperplasia andRelieved by Thymectomy (2013) (0)
- Metabolic Fatty Liver Disease (2009) (0)
- Do Calcium Activated Potassium Channels Control Proliferation of Myofibroblasts? Implications for Fibroproliferative Diseases (2012) (0)
- A Novel NaV1.1 Mutation L1613P Associated with Familial Hemiplegic Migraine (2014) (0)
- Molecular pathophysiology of voltage-gated ion channels . Chapter 128 in : Reviews of Physiology Biochemistry and Pharmacology 1996 (2013) (0)
- Mild hyperphenylalaninemia (2020) (0)
- The short exercise test in the diagnosis of muscle sodium channel disease (1997) (0)
- P288 – 2100 A novel mutation in SCN4A gene in a patient with an unusual clinical presentation of myotonia permanents – expanding the clinical and molecular spectrum of SCN4A mutations (2013) (0)
- Single-unit (SU) activity in long latency responses of stereotactically treated Parkinsonian patients (1983) (0)
- PATHOGENESIS OF MALIGNANT HYPERTHERMIA (1999) (0)
- P179: 23Na, 35Cl and 39K magnetic resonance imaging at 7 Tesla (2014) (0)
- Electrophysiologic properties of human intercostal muscle as investigated by voltage clamp (1983) (0)
- Neurodegenerative Diseases: Compounds acting on ion channels (2005) (0)
- myotonia Familial cramp due to potassium-aggravated (1998) (0)
- PROMM: clinical and electromyographic features in a family from northern Croatia (2004) (0)
- Parmyotonia Congenita : The R M 8 P Na ’ Channel Mutagon in Adult Human Skeletal Muscle (0)
- [Hotline for malignant hyperthermia. New telephone number for the German nationwide 24 h service center: 08221/9600]. (2011) (0)
- Structural and functional abnormalities of the brain in myotonic dystrophy type 1 (MD1) and 2 (MD2) (2008) (0)
- S44-5 Chloride and sodium channel myotonias (2010) (0)
- Sodium (Na) MRI detects elevated muscular sodium concentration in Duchenne muscular dystrophy (2011) (0)
- Sunisa Chaiklieng 1 , Werner Klingler 1, 2 , Frank Lehmann-Horn 1 (2006) (0)
- Correction to: Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation (2020) (0)
- I-10 Pathogenesis of muscle degeneration in periodic paralyses and DMD (2011) (0)
- Hypokalemic periodic paralysis – an owner ’ s manual (2009) (0)
- Effects of cysteine mutations in the S 4S 5 linkers from domains D 1 to D 4 on the fast inactivation of the voltage-gated sodium channel (2013) (0)
- Effects of a Novel Cav1.1-R1242G Mutation Leading to Hypokalemic Periodic Paralysis (2013) (0)
- Hypokalemic periodic paralysis: electrophysiologic and contractile properties of intercostal muscle (1983) (0)
- Oral session 6 — Muscle (1) (2005) (0)
- Functional characterization of KCNJ2 mutations associated with Andersen-Tawil syndrome and atrial (2007) (0)
- Idiopathic CK-elevation (2006) (0)
- Ion Channels in Medicine (2008) (0)
- 135. Electrophysiological decrement and transient weakness in myotonic syndromes (2012) (0)
- [Relation between electrical and mechanical muscle activity in myotonia]. (1990) (0)
- Life-Threatening Hyperthermie Syndromes (2018) (0)
- Persistent Depolarization of Muscle Fibers: A Common Cause of Weakness in Muscle Disorders (1987) (0)
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