Burghes AH - Search Results

1

Spinal muscular atrophy: development and implementation of potential treatments.

Arnold WD, Burghes AH. Arnold WD, et al. Among authors: burghes ah. Ann Neurol. 2013 Sep;74(3):348-62. doi: 10.1002/ana.23995. Ann Neurol. 2013. PMID: 23939659 Free PMC article. Review.

2

Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group.

Burrow KL, Coovert DD, Klein CJ, Bulman DE, Kissel JT, Rammohan KW, Burghes AH, Mendell JR. Burrow KL, et al. Among authors: burghes ah. Neurology. 1991 May;41(5):661-6. doi: 10.1212/wnl.41.5.661. Neurology. 1991. PMID: 1781820 Clinical Trial.

3

A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region.

Carpten JD, DiDonato CJ, Ingraham SE, Wagner-McPherson C, Nieuwenhuijsen BW, Wasmuth JJ, Burghes AH. Carpten JD, et al. Among authors: burghes ah. Genomics. 1994 Nov 15;24(2):351-6. doi: 10.1006/geno.1994.1626. Genomics. 1994. PMID: 7698758 Free article.

4

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

Burghes AH, Ingraham SE, McLean M, Thompson TG, McPherson JD, Kote-Jarai Z, Carpten JD, DiDonato CJ, Ikeda JE, Surh L, et al. Burghes AH, et al. Genomics. 1994 May 15;21(2):394-402. doi: 10.1006/geno.1994.1282. Genomics. 1994. PMID: 8088834

5

Linkage mapping of the spinal muscular atrophy gene.

Burghes AH, Ingraham SE, Kóte-Jarai Z, Rosenfeld S, Herta N, Nadkarni N, DiDonato CJ, Carpten J, Hurko O, Florence J, et al. Burghes AH, et al. Hum Genet. 1994 Mar;93(3):305-12. doi: 10.1007/BF00212028. Hum Genet. 1994. PMID: 8125483

6

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW. Parsons DW, et al. Among authors: burghes ah. Hum Mol Genet. 1996 Nov;5(11):1727-32. doi: 10.1093/hmg/5.11.1727. Hum Mol Genet. 1996. PMID: 8922999

7

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

DiDonato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley RT 3rd, Florence J, Burghes AH. DiDonato CJ, et al. Among authors: burghes ah. Ann Neurol. 1997 Feb;41(2):230-7. doi: 10.1002/ana.410410214. Ann Neurol. 1997. PMID: 9029072

8

Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion.

Prior TW, Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Kissel JT, Luquette MH, Tsao CY, Mendell JR. Prior TW, et al. Among authors: burghes ah. Neurology. 1997 Feb;48(2):486-8. doi: 10.1212/wnl.48.2.486. Neurology. 1997. PMID: 9040743

9

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AH. McAndrew PE, et al. Among authors: burghes ah. Am J Hum Genet. 1997 Jun;60(6):1411-22. doi: 10.1086/515465. Am J Hum Genet. 1997. PMID: 9199562 Free PMC article.

10

The survival motor neuron protein in spinal muscular atrophy.

Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH. Coovert DD, et al. Among authors: burghes ah. Hum Mol Genet. 1997 Aug;6(8):1205-14. doi: 10.1093/hmg/6.8.1205. Hum Mol Genet. 1997. PMID: 9259265

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