Prior TW - Search Results

1

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: prior tw. Ann Neurol. 1997 Feb;41(2):230-7. doi: 10.1002/ana.410410214. Ann Neurol. 1997. PMID: 9029072

2

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: prior tw. Am J Hum Genet. 1995 Jan;56(1):158-66. Am J Hum Genet. 1995. PMID: 7825572 Free PMC article.

3

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.

Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. Amato AA, et al. Among authors: prior tw. Neurology. 1993 Apr;43(4):791-4. doi: 10.1212/wnl.43.4.791. Neurology. 1993. PMID: 8469342

4

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation.

Prior TW, Papp AC, Snyder PJ, Burghes AH, Sedra MS, Western LM, Bartello C, Mendell JR. Prior TW, et al. Hum Mol Genet. 1993 Mar;2(3):311-3. doi: 10.1093/hmg/2.3.311. Hum Mol Genet. 1993. PMID: 8499922

5

A novel splice site mutation in a Becker muscular dystrophy patient.

Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Hall CD, Mendell JR, Prior TW. Bartolo C, et al. Among authors: prior tw. J Med Genet. 1996 Apr;33(4):324-7. doi: 10.1136/jmg.33.4.324. J Med Genet. 1996. PMID: 8730289 Free PMC article.

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: prior tw. Hum Mol Genet. 1996 Nov;5(11):1727-32. doi: 10.1093/hmg/5.11.1727. Hum Mol Genet. 1996. PMID: 8922999

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. 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: prior tw. 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: prior tw. 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: prior tw. 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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