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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. Steinlein OK, et al. Nat Genet. 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201. Nat Genet. 1995. PMID: 7550350
The nicotinic acetylcholine receptor alpha 4 subunit contains a functionally relevant SNP Haplotype.
Eggert M, Winterer G, Wanischeck M, Hoda JC, Bertrand D, Steinlein O. Eggert M, et al. Among authors: steinlein o. BMC Genet. 2015 May 2;16:46. doi: 10.1186/s12863-015-0204-1. BMC Genet. 2015. PMID: 25934188 Free PMC article.
Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein.
Laviolette LA, Mermoud J, Calvo IA, Olson N, Boukhali M, Steinlein OK, Roider E, Sattler EC, Huang D, Teh BT, Motamedi M, Haas W, Iliopoulos O. Laviolette LA, et al. Among authors: steinlein ok. Nat Commun. 2017 Jun 28;8:15866. doi: 10.1038/ncomms15866. Nat Commun. 2017. PMID: 28656962 Free PMC article.
Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.
Sieb JP, Kraner S, Schrank B, Reitter B, Goebel TH, Tzartos SJ, Steinlein OK. Sieb JP, et al. Among authors: steinlein ok. Ann Neurol. 2000 Sep;48(3):379-83. Ann Neurol. 2000. PMID: 10976646
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations.
Sieb JP, Kraner S, Rauch M, Steinlein OK. Sieb JP, et al. Among authors: steinlein ok. Hum Genet. 2000 Aug;107(2):160-4. doi: 10.1007/s004390000359. Hum Genet. 2000. PMID: 11030414
Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample.
Mobascher A, Diaz-Lacava A, Wagner M, Gallinat J, Wienker TF, Drichel D, Becker T, Steffens M, Dahmen N, Gründer G, Thürauf N, Kiefer F, Kornhuber J, Toliat MR, Thiele H, Nürnberg P, Steinlein O, Winterer G. Mobascher A, et al. Among authors: steinlein o. PLoS One. 2016 Apr 7;11(4):e0152984. doi: 10.1371/journal.pone.0152984. eCollection 2016. PLoS One. 2016. PMID: 27054571 Free PMC article. Clinical Trial.
New functions for nicotinic acetylcholine receptors?
Steinlein O. Steinlein O. Behav Brain Res. 1998 Sep;95(1):31-5. doi: 10.1016/s0166-4328(97)00207-6. Behav Brain Res. 1998. PMID: 9754874 Review.
Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4).
Steinlein O, Weiland S, Stoodt J, Propping P. Steinlein O, et al. Genomics. 1996 Mar 1;32(2):289-94. doi: 10.1006/geno.1996.0119. Genomics. 1996. PMID: 8833159
An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics.
Weiland S, Witzemann V, Villarroel A, Propping P, Steinlein O. Weiland S, et al. Among authors: steinlein o. FEBS Lett. 1996 Nov 25;398(1):91-6. doi: 10.1016/s0014-5793(96)01215-x. FEBS Lett. 1996. PMID: 8946959
A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI).
Beck C, Moulard B, Steinlein O, Guipponi M, Vallee L, Montpied P, Baldy-Moulnier M, Malafosse A. Beck C, et al. Among authors: steinlein o. Neurobiol Dis. 1994 Nov;1(1-2):95-9. doi: 10.1006/nbdi.1994.0012. Neurobiol Dis. 1994. PMID: 9216991
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