Talbot K - Search Results

1

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.

Mutsaers CA, Wishart TM, Lamont DJ, Riessland M, Schreml J, Comley LH, Murray LM, Parson SH, Lochmüller H, Wirth B, Talbot K, Gillingwater TH. Mutsaers CA, et al. Among authors: talbot k. Hum Mol Genet. 2011 Nov 15;20(22):4334-44. doi: 10.1093/hmg/ddr360. Epub 2011 Aug 12. Hum Mol Genet. 2011. PMID: 21840928

2

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Rodrigues NR, et al. Among authors: talbot k. Hum Mol Genet. 1995 Apr;4(4):631-4. doi: 10.1093/hmg/4.4.631. Hum Mol Genet. 1995. PMID: 7633412

3

Gene deletions in spinal muscular atrophy.

Rodrigues NR, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, Davies KE. Rodrigues NR, et al. Among authors: talbot k. J Med Genet. 1996 Feb;33(2):93-6. doi: 10.1136/jmg.33.2.93. J Med Genet. 1996. PMID: 8929942 Free PMC article.

4

Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.

Talbot K, Rodrigues N, Bernert G, Bittner R, Davies K. Talbot K, et al. J Med Genet. 1996 Dec;33(12):1019-21. doi: 10.1136/jmg.33.12.1019. J Med Genet. 1996. PMID: 9004135 Free PMC article.

5

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE. Talbot K, et al. Hum Mol Genet. 1997 Mar;6(3):497-500. doi: 10.1093/hmg/6.3.497. Hum Mol Genet. 1997. PMID: 9147655

6

Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex.

Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davies KE. Talbot K, et al. Hum Mol Genet. 1998 Dec;7(13):2149-56. doi: 10.1093/hmg/7.13.2149. Hum Mol Genet. 1998. PMID: 9817934

7

Spinal muscular atrophy.

Talbot K. Talbot K. J Inherit Metab Dis. 1999 Jun;22(4):545-54. doi: 10.1023/a:1005516625866. J Inherit Metab Dis. 1999. PMID: 10407786 Review.

8

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.

Skordis LA, Dunckley MG, Burglen L, Campbell L, Talbot K, Patel S, Melki J, Davies KE, Dubowitz V, Muntoni F. Skordis LA, et al. Among authors: talbot k. Hum Genet. 2001 Apr;108(4):356-7. doi: 10.1007/s004390100497. Hum Genet. 2001. PMID: 11379882

9

Spinal muscular atrophy.

Talbot K, Davies KE. Talbot K, et al. Semin Neurol. 2001 Jun;21(2):189-97. doi: 10.1055/s-2001-15264. Semin Neurol. 2001. PMID: 11442327 Review.

10

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy.

Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH. Murray LM, et al. Among authors: talbot k. Hum Mol Genet. 2008 Apr 1;17(7):949-62. doi: 10.1093/hmg/ddm367. Epub 2007 Dec 8. Hum Mol Genet. 2008. PMID: 18065780 Free article.

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