Steinlein OK

General

Full name : Steinlein Ortrud K

First name : Ortrud K

Mail : Institute of Human Genetics, University Hospital, Ludwig-Maximillians-University, Goethestr. 29, 80336 Munich

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Country : Germany

Email : Ortrud.Steinlein@med.uni-muenchen.de

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References (9)

Title : Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations - Guergueltcheva_2012_J.Neurol_259_838
Author(s) : Guergueltcheva V , Muller JS , Dusl M , Senderek J , Oldfors A , Lindbergh C , Maxwell S , Colomer J , Mallebrera CJ , Nascimento A , Vilchez JJ , Muelas N , Kirschner J , Nafissi S , Kariminejad A , Nilipour Y , Bozorgmehr B , Najmabadi H , Rodolico C , Sieb JP , Schlotter B , Schoser B , Herrmann R , Voit T , Steinlein OK , Najafi A , Urtizberea A , Soler DM , Muntoni F , Hanna MG , Chaouch A , Straub V , Bushby K , Palace J , Beeson D , Abicht A , Lochmuller H
Ref : Journal of Neurology , 259 :838 , 2012
Abstract :
PubMedSearch : Guergueltcheva_2012_J.Neurol_259_838
PubMedID: 21975507

Title : Poster: Functional expression of an alpha5\/beta2 nicotinic acetylcholine receptor -
Author(s) : Araud T , Wanischeck M , Benfante R , Steinlein OK , Fornasari D , Bertrand D , Hoda JC
Ref : Biochemical Pharmacology , 78 :901 , 2009
PubMedID:

Title : Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore - Hoda_2008_Mol.Pharmacol_74_379
Author(s) : Hoda JC , Gu W , Friedli M , Phillips HA , Bertrand S , Antonarakis SE , Goudie D , Roberts R , Scheffer IE , Marini C , Patel J , Berkovic SF , Mulley JC , Steinlein OK , Bertrand D
Ref : Molecular Pharmacology , 74 :379 , 2008
Abstract :
PubMedSearch : Hoda_2008_Mol.Pharmacol_74_379
PubMedID: 18456869

Title : Genetic disorders caused by mutated acetylcholine receptors - Steinlein_2007_Life.Sci_80_2186
Author(s) : Steinlein OK
Ref : Life Sciences , 80 :2186 , 2007
Abstract :
PubMedSearch : Steinlein_2007_Life.Sci_80_2186
PubMedID: 17434185

Title : Congenital myasthenic syndromes - Sieb_2002_Semin.Pediatr.Neurol_9_108
Author(s) : Sieb JP , Kraner S , Steinlein OK
Ref : Semin Pediatr Neurol , 9 :108 , 2002
Abstract :
PubMedSearch : Sieb_2002_Semin.Pediatr.Neurol_9_108
PubMedID: 12138995

Title : Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation - Sieb_2000_Ann.Neurol_48_379
Author(s) : Sieb JP , Kraner S , Schrank B , Reitter B , Goebel TH , Tzartos SJ , Steinlein OK
Ref : Annals of Neurology , 48 :379 , 2000
Abstract :
PubMedSearch : Sieb_2000_Ann.Neurol_48_379
PubMedID: 10976646

Title : Neuronal nicotinic receptors in human epilepsy - Steinlein_2000_Eur.J.Pharmacol_393_243
Author(s) : Steinlein OK
Ref : European Journal of Pharmacology , 393 :243 , 2000
Abstract :
PubMedSearch : Steinlein_2000_Eur.J.Pharmacol_393_243
PubMedID: 10771020

Title : An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics - Weiland_1996_FEBS.Lett_398_91
Author(s) : Weiland S , Witzemann V , Villarroel A , Propping P , Steinlein OK
Ref : FEBS Letters , 398 :91 , 1996
Abstract :
PubMedSearch : Weiland_1996_FEBS.Lett_398_91
PubMedID: 8946959

Title : Differential release of [3H]acetylcholine from the rat phrenic nerve-hemidiaphragm preparation by electrical nerve stimulation and by high potassium - Wessler_1987_Neurosci_22_289
Author(s) : Wessler I , Steinlein OK
Ref : Neuroscience , 22 :289 , 1987
Abstract :
PubMedSearch : Wessler_1987_Neurosci_22_289
PubMedID: 2442663