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Results: 1-25 | 26-33
Results: 1-25/33
EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - Second of two parts
Authors: Gasser, T Dichgans, M Finsterer, J Hausmanowa-Petrusewicz, I Jurkat-Rott, K Klopstock, T Leguern, E Lehesjoki, AE Lehmann-Horn, F Lynch, T Morris, H Rossor, M Steinlein, OK Wood, N Zaremba, J Zeviani, M Zoharn, A
Citation: T. Gasser et al., EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - Second of two parts, EUR J NEUR, 8(5), 2001, pp. 407-424
EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - First of two parts
Authors: Gasser, T Dichgans, M Finsterer, J Hausmanowa-Petrusewicz, I Jurkat-Rott, K Klopstock, T LeGuern, E Lehesjoki, AE Lehmann-Horn, F Lynch, T Morris, H Rossor, M Steinlein, OK Wood, N Zaremba, J Zeviani, M Zoharn, A
Citation: T. Gasser et al., EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - First of two parts, EUR J NEUR, 8(4), 2001, pp. 299-314
Enhanced inactivation and acceleration of activation of the sodium channelassociated with epilepsy in man
Authors: Alekov, AK Rahman, M Mitrovic, N Lehmann-Horn, F Lerche, H
Citation: Ak. Alekov et al., Enhanced inactivation and acceleration of activation of the sodium channelassociated with epilepsy in man, EUR J NEURO, 13(11), 2001, pp. 2171-2176
Two mutations in the IV/S4-S5 segment of the human skeletal muscle Na+ channel disrupt fast and enhance slow inactivation
Authors: Alekov, AK Peter, WG Mitrovic, N Lehmann-Horn, F Lerche, H
Citation: Ak. Alekov et al., Two mutations in the IV/S4-S5 segment of the human skeletal muscle Na+ channel disrupt fast and enhance slow inactivation, NEUROSCI L, 306(3), 2001, pp. 173-176
Ion channels and epilepsy
Authors: Lerche, H Jurkat-Rott, K Lehmann-Horn, F
Citation: H. Lerche et al., Ion channels and epilepsy, AM J MED G, 106(2), 2001, pp. 146-159
Generalized epilepsy with febrile seizures plus - Further heterogeneity ina large family
Authors: Lerche, H Weber, YG Baier, H Jurkat-Rott, K de Camargo, OK Ludolph, AC Bode, H Lehmann-Horn, F
Citation: H. Lerche et al., Generalized epilepsy with febrile seizures plus - Further heterogeneity ina large family, NEUROLOGY, 57(7), 2001, pp. 1191-1198
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 inthe muscle sodium channel gene SCN4A
Authors: Sternberg, D Maisonobe, T Jurkat-Rott, K Nicole, S Launay, E Chauveau, D Tabti, N Lehmann-Horn, F Hainque, B Fontaine, B
Citation: D. Sternberg et al., Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 inthe muscle sodium channel gene SCN4A, BRAIN, 124, 2001, pp. 1091-1099
Chloride and sodium channel myotonias
Authors: Jurkat-Rott, K Lehmann-Horn, F Rudel, R
Citation: K. Jurkat-rott et al., Chloride and sodium channel myotonias, CHANNELOPATHIES OF THE NERVOUS SYSTEM, 2001, pp. 141-157
Muscle ion channel diseases
Authors: Rudel, R Jurkat-Rott, K Lehmann-Horn, F
Citation: R. Rudel et al., Muscle ion channel diseases, MG CLIN NEU, 18, 2000, pp. 79-95
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
Authors: Nicole, S Davoine, CS Topaloglu, H Cattolico, L Barral, D Beighton, P Ben Hamida, C Hammouda, H Cruaud, C White, PS Samson, D Urtizberea, JA Lehmann-Horn, F Weissenbach, J Hentati, F Fontaine, B
Citation: S. Nicole et al., Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia), NAT GENET, 26(4), 2000, pp. 480-483
Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis
Authors: Weckbecker, K Wurz, A Mohammadi, B Mansuroglu, T George, AL Lerche, H Dengler, R Lehmann-Horn, F Mitrovic, N
Citation: K. Weckbecker et al., Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis, NEUROMUSC D, 10(1), 2000, pp. 31-39
Genetics and pathogenesis of malignant hyperthermia
Authors: Jurkat-Rott, K McCarthy, T Lehmann-Horn, F
Citation: K. Jurkat-rott et al., Genetics and pathogenesis of malignant hyperthermia, MUSCLE NERV, 23(1), 2000, pp. 4-17
Molecular diagnosis of hereditary neurological diseases. A position paper
Authors: Gasser, T Dichgans, M Jurkat-Rott, K Klockgether, T Klopstock, T Kretzschmar, H Lehmann-Horn, F Reichmann, H Rolfs, A Sander, T Stogbauer, F
Citation: T. Gasser et al., Molecular diagnosis of hereditary neurological diseases. A position paper, NERVENARZT, 71(10), 2000, pp. 774-796
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current (vol 97, pg 9549, 2000)
Authors: Jurkat-Rott, K Mitrovic, N Hang, C Kouzmekine, A Iaizzo, P Herzog, J Lerche, H Nicole, S Vale-Santos, J Chauveau, D Fontaine, B Lehmann-Horn, F
Citation: K. Jurkat-rott et al., Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current (vol 97, pg 9549, 2000), P NAS US, 97(21), 2000, pp. 11673-11673
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current
Authors: Jurkat-Rott, K Mitrovic, N Hang, C Kouzmekine, A Iaizzo, P Herzog, J Lerche, H Nicole, S Vale-Santos, J Chauveau, D Fontaine, B Lehmann-Horn, F
Citation: K. Jurkat-rott et al., Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current, P NAS US, 97(17), 2000, pp. 9549-9554
A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro
Authors: Alekov, AK Rahman, MM Mitrovic, N Lehmann-Horn, F Lerche, H
Citation: Ak. Alekov et al., A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro, J PHYSL LON, 529(3), 2000, pp. 533-539
Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca2+ release
Authors: Dietze, B Henke, J Eichinger, HM Lehmann-Horn, F Melzer, W
Citation: B. Dietze et al., Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca2+ release, J PHYSL LON, 526(3), 2000, pp. 507-514
Xenon does not induce contracture in human malignant hyperthermia muscle
Authors: Baur, CP Klingler, W Jurkat-Rott, K Froeba, G Schoch, E Marx, T Georgieff, M Lehmann-Horn, F
Citation: Cp. Baur et al., Xenon does not induce contracture in human malignant hyperthermia muscle, BR J ANAEST, 85(5), 2000, pp. 712-716
A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility
Authors: Baur, CP Bellon, L Felleiter, P Fiege, M Fricker, R Glahn, K Heffron, JJA Herrmann-Frank, A Jurkat-Rott, K Klingler, W Lehane, M Ording, H Tegazzin, V Wappler, F Georgieff, M Lehmann-Horn, F
Citation: Cp. Baur et al., A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility, ANESTH ANAL, 90(1), 2000, pp. 200-205
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test
Authors: Brandt, A Schleithoff, L Jurkat-Rott, K Klingler, W Baur, C Lehmann-Horn, F
Citation: A. Brandt et al., Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test, HUM MOL GEN, 8(11), 1999, pp. 2055-2062
Expression in mammalian cells and electrophysiological characterization oftwo mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)
Authors: Bretschneider, F Wrisch, A Lehmann-Horn, F Grissmer, S
Citation: F. Bretschneider et al., Expression in mammalian cells and electrophysiological characterization oftwo mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1), EUR J NEURO, 11(7), 1999, pp. 2403-2412
Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2)
Authors: Schleithoff, L Mehrke, G Reutlinger, B Lehmann-Horn, F
Citation: L. Schleithoff et al., Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2), GENOMICS, 61(2), 1999, pp. 201-209
A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions
Authors: Lerche, H Biervert, C Alekov, AK Schleithoff, L Lindner, M Klingler, W Bretschneider, F Mitrovic, N Jurkat-Rott, K Bode, H Lehmann-Horn, F Steinlein, OK
Citation: H. Lerche et al., A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions, ANN NEUROL, 46(3), 1999, pp. 305-312
Teaching course: ion channelopathies in neurology
Authors: Jurkat-Rott, K Lerche, H Mitrovic, N Lehmann-Horn, F
Citation: K. Jurkat-rott et al., Teaching course: ion channelopathies in neurology, J NEUROL, 246(9), 1999, pp. 758-763
Muscle diseases - New developments
Authors: Eger, K Bretschneider, F Zierz, S Lehmann-Horn, F
Citation: K. Eger et al., Muscle diseases - New developments, AKT NEUROL, 26(5), 1999, pp. 204-214
Risultati: 1-25 | 26-33