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Year Number of Results
2006 1
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2008 5
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2010 9
2011 4
2012 7
2013 5
2021 1
2024 0

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Page 1
Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype.
McKeon A, Martinez-Hernandez E, Lancaster E, Matsumoto JY, Harvey RJ, McEvoy KM, Pittock SJ, Lennon VA, Dalmau J. McKeon A, et al. JAMA Neurol. 2013 Jan;70(1):44-50. doi: 10.1001/jamaneurol.2013.574. JAMA Neurol. 2013. PMID: 23090334 Free PMC article.
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
Giménez C, Pérez-Siles G, Martínez-Villarreal J, Arribas-González E, Jiménez E, Núñez E, de Juan-Sanz J, Fernández-Sánchez E, García-Tardón N, Ibáñez I, Romanelli V, Nevado J, James VM, Topf M, Chung SK, Thomas RH, Desviat LR, Aragón C, Zafra F, Rees MI, Lapunzina P, Harvey RJ, López-Corcuera B. Giménez C, et al. J Biol Chem. 2012 Aug 17;287(34):28986-9002. doi: 10.1074/jbc.M111.319244. Epub 2012 Jun 29. J Biol Chem. 2012. PMID: 22753417 Free PMC article. Clinical Trial.
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ. Carta E, et al. J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14. J Biol Chem. 2012. PMID: 22700964 Free PMC article. Clinical Trial.
Frontiers in molecular neuroscience - résumé and perspective.
Meier JC, Harvey RJ, Seeburg P. Meier JC, et al. Front Mol Neurosci. 2011 Dec 30;4:58. doi: 10.3389/fnmol.2011.00058. eCollection 2011. Front Mol Neurosci. 2011. PMID: 22232574 Free PMC article. No abstract available.
37 results