Burghes AH - Search Results

1

Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates.

Meyer K, Ferraiuolo L, Schmelzer L, Braun L, McGovern V, Likhite S, Michels O, Govoni A, Fitzgerald J, Morales P, Foust KD, Mendell JR, Burghes AH, Kaspar BK. Meyer K, et al. Among authors: burghes ah. Mol Ther. 2015 Mar;23(3):477-87. doi: 10.1038/mt.2014.210. Epub 2014 Oct 31. Mol Ther. 2015. PMID: 25358252 Free PMC article.

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. Among authors: burghes ah. 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. Among authors: burghes ah. 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. Among authors: burghes ah. 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. Among authors: burghes ah. 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. Among authors: burghes ah. Nat Genet. 1995 Jan;9(1):56-62. doi: 10.1038/ng0195-56. Nat Genet. 1995. PMID: 7704025

7

Gene therapy for muscle diseases.

Coovert DD, Burghes AH. Coovert DD, et al. Among authors: burghes ah. Curr Opin Neurol. 1994 Oct;7(5):463-70. doi: 10.1097/00019052-199410000-00015. Curr Opin Neurol. 1994. PMID: 7804468 Review.

8

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. Among authors: burghes ah. Am J Hum Genet. 1995 Jan;56(1):158-66. Am J Hum Genet. 1995. PMID: 7825572 Free PMC article.

9

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. Among authors: burghes ah. 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.

10

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. Among authors: burghes ah. Hum Mutat. 1993;2(3):192-5. doi: 10.1002/humu.1380020307. Hum Mutat. 1993. PMID: 8364587

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