Burghes AH - Search Results

1

A large animal model of spinal muscular atrophy and correction of phenotype.

Duque SI, Arnold WD, Odermatt P, Li X, Porensky PN, Schmelzer L, Meyer K, Kolb SJ, Schümperli D, Kaspar BK, Burghes AH. Duque SI, et al. Among authors: burghes ah. Ann Neurol. 2015 Mar;77(3):399-414. doi: 10.1002/ana.24332. Epub 2015 Feb 9. Ann Neurol. 2015. PMID: 25516063 Free PMC article.

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 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

4

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

5

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

6

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

7

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

8

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.

9

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

10

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.

Parsons DW, McAndrew PE, Allinson PS, Parker WD Jr, Burghes AH, Prior TW. Parsons DW, et al. Among authors: burghes ah. J Med Genet. 1998 Aug;35(8):674-6. doi: 10.1136/jmg.35.8.674. J Med Genet. 1998. PMID: 9719377 Free PMC article.

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