Snell RG - Search Results

1

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

Rees MI, Lewis TM, Kwok JB, Mortier GR, Govaert P, Snell RG, Schofield PR, Owen MJ. Rees MI, et al. Among authors: snell rg. Hum Mol Genet. 2002 Apr 1;11(7):853-60. doi: 10.1093/hmg/11.7.853. Hum Mol Genet. 2002. PMID: 11929858

2

The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.

Snell RG, Doucette-Stamm LA, Gillespie KM, Taylor SA, Riba L, Bates GP, Altherr MR, MacDonald ME, Gusella JF, Wasmuth JJ, et al. Snell RG, et al. Hum Mol Genet. 1993 Mar;2(3):305-9. doi: 10.1093/hmg/2.3.305. Hum Mol Genet. 1993. PMID: 8499921

3

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP. Jones AC, et al. Among authors: snell rg. Hum Mol Genet. 1997 Nov;6(12):2155-61. doi: 10.1093/hmg/6.12.2155. Hum Mol Genet. 1997. PMID: 9328481

4

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).

Rees MI, Watts P, Fenton I, Clarke A, Snell RG, Owen MJ, Gray J. Rees MI, et al. Among authors: snell rg. Hum Genet. 2000 Feb;106(2):206-9. doi: 10.1007/s004390051029. Hum Genet. 2000. PMID: 10746562

5

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.

Rees MI, Lewis TM, Vafa B, Ferrie C, Corry P, Muntoni F, Jungbluth H, Stephenson JB, Kerr M, Snell RG, Schofield PR, Owen MJ. Rees MI, et al. Among authors: snell rg. Hum Genet. 2001 Sep;109(3):267-70. doi: 10.1007/s004390100569. Hum Genet. 2001. PMID: 11702206

6

Distribution of gephyrin in the human brain: an immunohistochemical analysis.

Waldvogel HJ, Baer K, Snell RG, During MJ, Faull RL, Rees MI. Waldvogel HJ, et al. Among authors: snell rg. Neuroscience. 2003;116(1):145-56. doi: 10.1016/s0306-4522(02)00550-x. Neuroscience. 2003. PMID: 12535948

7

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.

Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG. Rees MI, et al. Among authors: snell rg. J Biol Chem. 2003 Jul 4;278(27):24688-96. doi: 10.1074/jbc.M301070200. Epub 2003 Apr 8. J Biol Chem. 2003. PMID: 12684523 Free article.

8

Molecular investigation of TBP allele length: a SCA17 cellular model and population study.

Reid SJ, Rees MI, van Roon-Mom WM, Jones AL, MacDonald ME, Sutherland G, During MJ, Faull RL, Owen MJ, Dragunow M, Snell RG. Reid SJ, et al. Among authors: snell rg. Neurobiol Dis. 2003 Jun;13(1):37-45. doi: 10.1016/s0969-9961(03)00014-7. Neurobiol Dis. 2003. PMID: 12758065

9

Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

Baer K, Waldvogel HJ, During MJ, Snell RG, Faull RL, Rees MI. Baer K, et al. Among authors: snell rg. Neuroscience. 2003;122(3):773-84. doi: 10.1016/s0306-4522(03)00543-8. Neuroscience. 2003. PMID: 14622920

10

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

Reid SJ, van Roon-Mom WM, Wood PC, Rees MI, Owen MJ, Faull RL, Dragunow M, Snell RG. Reid SJ, et al. Among authors: snell rg. Brain Res Mol Brain Res. 2004 Jun 18;125(1-2):120-8. doi: 10.1016/j.molbrainres.2004.03.018. Brain Res Mol Brain Res. 2004. PMID: 15193429

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