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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Comment
| 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 |