Rodrigues NR - Search Results

1

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. 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.

2

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.

3

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. Hum Mol Genet. 1995 Apr;4(4):631-4. doi: 10.1093/hmg/4.4.631. Hum Mol Genet. 1995. PMID: 7633412

4

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.

Daniels RJ, Campbell L, Rodrigues NR, Francis MJ, Morrison KE, McLean M, MacKenzie A, Ignatius J, Dubowitz V, Davies KE. Daniels RJ, et al. Among authors: rodrigues nr. J Med Genet. 1995 Feb;32(2):93-6. doi: 10.1136/jmg.32.2.93. J Med Genet. 1995. PMID: 7760328 Free PMC article.

5

Molecular genetics of autosomal recessive spinal muscular atrophy.

Rodrigues NR, Talbot K, Davies KE. Rodrigues NR, et al. Mol Med. 1996 Jul;2(4):400-4. Mol Med. 1996. PMID: 8827710 Free PMC article. Review. No abstract available.

6

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. Among authors: rodrigues nr. Hum Mol Genet. 1997 Mar;6(3):497-500. doi: 10.1093/hmg/6.3.497. Hum Mol Genet. 1997. PMID: 9147655

7

Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype.

Talbot K, Rodrigues NR, Ignatius J, Muntoni F, Davies KE. Talbot K, et al. Among authors: rodrigues nr. Neuromuscul Disord. 1997 May;7(3):198-201. doi: 10.1016/s0960-8966(97)00450-1. Neuromuscul Disord. 1997. PMID: 9185185

8

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.

Taylor JE, Thomas NH, Lewis CM, Abbs SJ, Rodrigues NR, Davies KE, Mathew CG. Taylor JE, et al. Among authors: rodrigues nr. Eur J Hum Genet. 1998 Sep-Oct;6(5):467-74. doi: 10.1038/sj.ejhg.5200210. Eur J Hum Genet. 1998. PMID: 9801871

9

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN.

Mohaghegh P, Rodrigues NR, Owen N, Ponting CP, Le TT, Burghes AH, Davies KE. Mohaghegh P, et al. Among authors: rodrigues nr. Eur J Hum Genet. 1999 Jul;7(5):519-25. doi: 10.1038/sj.ejhg.5200346. Eur J Hum Genet. 1999. PMID: 10439956

10

Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.

Francis MJ, Nesbit MA, Theodosiou AM, Rodrigues NR, Campbell L, Christodoulou Z, Qureshi SJ, Porteous DJ, Brookes AJ, Davies KE. Francis MJ, et al. Among authors: rodrigues nr. Genomics. 1995 May 20;27(2):366-9. doi: 10.1006/geno.1995.1059. Genomics. 1995. PMID: 7558009

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