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Year Number of Results
2000 1
2004 2
2006 1
2011 3
2012 1
2013 3
2014 2
2015 1
2016 1
2017 1
2018 6
2019 1
2020 2
2021 1
2022 1
2023 1
2024 0

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24 results

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Page 1
Response to W. Sieghart.
Skolnick P. Skolnick P. Trends Pharmacol Sci. 2013 Mar;34(3):146. doi: 10.1016/j.tips.2013.01.007. Epub 2013 Feb 4. Trends Pharmacol Sci. 2013. PMID: 23384390 No abstract available.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
Serine 171, a conserved residue in the gamma-aminobutyric acid type A (GABAA) receptor gamma2 subunit, mediates subunit interaction and cell surface localization.
Jin P, Walther D, Zhang J, Rowe-Teeter C, Fu GK. Jin P, et al. J Biol Chem. 2004 Apr 2;279(14):14179-83. doi: 10.1074/jbc.M313411200. Epub 2004 Jan 21. J Biol Chem. 2004. PMID: 14736867 Free article.
Structure analysis based on a three-dimensional homology model of gamma2 (Ernst, M., Brauchart, D., Boresch, S., and Sieghart, W. (2003) Neuroscience 119, 933-943) reveals that serine 171 may play a critical role in the formation and stabilization of an exposed turn …
Structure analysis based on a three-dimensional homology model of gamma2 (Ernst, M., Brauchart, D., Boresch, S., and Sieghart, W …
Somato-synaptic variation of GABA(A) receptors in cultured murine cerebellar granule cells: investigation of the role of the alpha6 subunit.
Mellor JR, Wisden W, Randall AD. Mellor JR, et al. Neuropharmacology. 2000 Jul 10;39(9):1495-513. doi: 10.1016/s0028-3908(00)00007-1. Neuropharmacology. 2000. PMID: 10854895
., Mellor, J.R., Pollard, S., Bahn, S., Stephenson, F.A., Randall, A.D., Sieghart, W., Somogyi, P., Smith, A.J.H., Wisden, W., 1997. Ligand-gated ion channel partnerships: GABA(A) receptor alpha(6) subunit inactivation inhibits delta subunit expression. ...
., Mellor, J.R., Pollard, S., Bahn, S., Stephenson, F.A., Randall, A.D., Sieghart, W., Somogyi, P., Smith, A.J.H., Wisden, …
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.
24 results