UCL Discovery Stage
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Number of items: 18.

Article

Achilli, F; Bros-Facer, V; Williams, HP; Banks, GT; AlQatari, M; Chia, R; Tucci, V; ... Fisher, EMC; + view all (2009) An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. Disease Models & Mechanisms , 2 (7-8) 359 - 373. 10.1242/dmm.002527. Green open access
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Banks, G.T.; Bros-Facer, V.; Williams, H.P.; Chia, R.; Achilli, F.; Bryson, J.B.; Greensmith, L.; (2009) Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1G93A motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice. PLoS ONE , 4 (7) , Article e6218. 10.1371/journal.pone.0006218. Green open access
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Buchhave, P; Blennow, K; Zetterberg, H; Stomrud, E; Londos, E; Andreasen, N; Minthon, L; (2009) Longitudinal study of CSF biomarkers in patients with Alzheimer's disease. PLoS One , 4 (7) , Article e6294. 10.1371/journal.pone.0006294. Green open access
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Chan, D; Anderson, V; Pijnenburg, Y; Whitwell, J; Barnes, J; Scahill, R; Stevens, JM; ... Fox, NC; + view all (2009) The clinical profile of right temporal lobe atrophy. Brain , 132 (5) pp. 1287-1298. 10.1093/brain/awp037. Green open access
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Chio, A.; Schymick, J. C.; Restagno, G.; Scholz, S. W.; Lombardo, F.; Lai, S.-L.; Mora, G.; ... Traynor, B. J.; + view all (2009) A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics , 18 (8) pp. 1524-1532. 10.1093/hmg/ddp059. Green open access
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Galante, M.; Jani, H.; Vanes, L.; Daniel, H.; Fisher, E.M.C.; Tybulewicz, V.L.J.; Bliss, T.V.P.; (2009) Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome. Human Molecular Genetics , 18 (8) pp. 1449-1463. 10.1093/hmg/ddp055. Green open access
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Grigoriadis, A.; Oliver, G.R.; Tanney, A.; Kendrick, H.; Smalley, M.J.; Jat, P.; Neville, A.M.; (2009) Identification of differentially expressed sense and antisense transcript pairs in breast epithelial tissues. BMC Genomic , 10 p. 324. 10.1186/1471-2164-10-324. Green open access
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Klöppel, S.; Draganski, B.; Siebner, H.R.; Tabrizi, S.J.; Weiller, C.; Frackowiak, R.S.J.; (2009) Functional compensation of motor function in pre-symptomatic Huntington's disease. Brain , 132 (6) pp. 1624-1632. 10.1093/brain/awp081. Green open access
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Kloppel, S.; Stonnington, C. M.; Chu, C.; Draganski, B.; Scahill, R. I.; Rohrer, J. D.; Fox, N. C.; ... Frackowiak, R. S.J.; + view all (2009) A plea for confidence intervals and consideration of generalizability in diagnostic studies. Brain , 132 (4) e102. 10.1093/brain/awn091. Green open access
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Lloyd, SE; Rossor, M; Fox, N; Mead, S; Collinge, J; (2009) HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q. BMC Medical Genetics , 10 , Article 90. 10.1186/1471-2350-10-90. Green open access
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Nalls, MA; Simon-Sanchez, J; Gibbs, JR; Paisan-Ruiz, C; Bras, JT; Tanaka, T; Matarin, M; ... Singleton, AB; + view all (2009) Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics. PLoS Genetics , 5 (3) , Article e1000415. 10.1371/journal.pgen.1000415. Green open access
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Omar, R.; Sampson, E.L.; Loy, C.T.; Mummery, C.J.; Fox, N.C.; Rossor, M.N.; Warren, J.D.; (2009) Delusions in frontotemporal lobar degeneration. Journal of Neurology , 256 (4) pp. 600-607. 10.1007/s00415-009-0128-7. Green open access
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Ridgway, G.R.; Omar, R.; Ourselin, S.; Hill, D.L.G.; Warren, J.D.; Fox, N.C.; (2009) Issues with threshold masking in Voxel-based morphometry of atrophied brains. NeuroImage , 44 (1) pp. 99-111. 10.1016/j.neuroimage.2008.08.045. Green open access
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Rohrer, JD; Rossor, MN; Warren, JD; (2009) Neologistic jargon aphasia and agraphia in primary progressive aphasia. Journal of the Neurological Sciences , 277 (1-2) 155 - 159. 10.1016/j.jns.2008.10.014. Green open access
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Thesis

Pal, S.; (2009) Development of novel molecular diagnostic strategies in prion disease. Doctoral thesis , UCL (University College London).

Stevens, J.C.; (2009) An investigation of the behaviour of superoxide dismutase 1 in in-vitro models of motor neuron disease. Doctoral thesis , UCL (University College London).

van de Leemput, J.C.H.; (2009) Molecular genetic characterization of ataxic movement disorders in mouse and human. Doctoral thesis , UCL (University College London). Green open access
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Wild, E.J.; (2009) Identification and evaluation of biomarkers for Huntington’s disease. Doctoral thesis , UCL (University College London). Green open access
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This list was generated on Sun Oct 20 23:10:23 2024 BST.