Burghes AHM - Search Results

1

Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue.

Thomsen G, Burghes AHM, Hsieh C, Do J, Chu BTT, Perry S, Barkho B, Kaufmann P, Sproule DM, Feltner DE, Chung WK, McGovern VL, Hevner RF, Conces M, Pierson CR, Scoto M, Muntoni F, Mendell JR, Foust KD. Thomsen G, et al. Among authors: burghes ahm. Nat Med. 2021 Oct;27(10):1701-1711. doi: 10.1038/s41591-021-01483-7. Epub 2021 Oct 4. Nat Med. 2021. PMID: 34608334 Clinical Trial.

2

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.

Winnard AV, Jia-Hsu Y, Gibbs RA, Mendell JR, Burghes AH. Winnard AV, et al. Hum Mol Genet. 1992 Nov;1(8):645-6. doi: 10.1093/hmg/1.8.645. Hum Mol Genet. 1992. PMID: 1301174 No abstract available.

3

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.

Klein CJ, Coovert DD, Bulman DE, Ray PN, Mendell JR, Burghes AH. Klein CJ, et al. Am J Hum Genet. 1992 May;50(5):950-9. Am J Hum Genet. 1992. PMID: 1570844 Free PMC article.

4

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. Neurology. 1991 May;41(5):661-6. doi: 10.1212/wnl.41.5.661. Neurology. 1991. PMID: 1781820 Clinical Trial.

5

Spectrum of small mutations in the dystrophin coding region.

Prior TW, Bartolo C, Pearl DK, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR. Prior TW, et al. Am J Hum Genet. 1995 Jul;57(1):22-33. Am J Hum Genet. 1995. PMID: 7611292 Free PMC article.

6

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.

Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghes AH, Crawford TO, Rochette C, Mendell JR, Wasmuth JJ. Thompson TG, et al. Nat Genet. 1995 Jan;9(1):56-62. doi: 10.1038/ng0195-56. Nat Genet. 1995. PMID: 7704025

7

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.

Winnard AV, Mendell JR, Prior TW, Florence J, Burghes AH. Winnard AV, et al. Am J Hum Genet. 1995 Jan;56(1):158-66. Am J Hum Genet. 1995. PMID: 7825572 Free PMC article.

8

Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.

Prior TW, Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR. Prior TW, et al. Hum Mol Genet. 1994 Jul;3(7):1173-4. doi: 10.1093/hmg/3.7.1173. Hum Mol Genet. 1994. PMID: 7981690 No abstract available.

9

Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.

Prior TW, Papp AC, Snyder PJ, Burghes AH, Sedra MS, Western LM, Bartolo C, Mendell JR. Prior TW, et al. Hum Mutat. 1993;2(3):192-5. doi: 10.1002/humu.1380020307. Hum Mutat. 1993. PMID: 8364587

10

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.

Prior TW, Papp AC, Snyder PJ, Burghes AH, Bartolo C, Sedra MS, Western LM, Mendell JR. Prior TW, et al. Nat Genet. 1993 Aug;4(4):357-60. doi: 10.1038/ng0893-357. Nat Genet. 1993. PMID: 8401582

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