Prior TW - Search Results

1

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.

Wu X, Wang SH, Sun J, Krainer AR, Hua Y, Prior TW. Wu X, et al. Among authors: prior tw. Hum Mol Genet. 2017 Jul 15;26(14):2768-2780. doi: 10.1093/hmg/ddx166. Hum Mol Genet. 2017. PMID: 28460014 Free PMC article.

2

A positive modifier of spinal muscular atrophy in the SMN2 gene.

Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT. Prior TW, et al. Am J Hum Genet. 2009 Sep;85(3):408-13. doi: 10.1016/j.ajhg.2009.08.002. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716110 Free PMC article.

3

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

4

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.

Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossoll W, Prior TW, Morris GE, Burghes AH. Monani UR, et al. Among authors: prior tw. Hum Mol Genet. 2000 Feb 12;9(3):333-9. doi: 10.1093/hmg/9.3.333. Hum Mol Genet. 2000. PMID: 10655541

5

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.

Mailman MD, Hemingway T, Darsey RL, Glasure CE, Huang Y, Chadwick RB, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Schafer RW, Abuelo DN, Reich EW, Theil KS, Burghes AH, de la Chapelle A, Prior TW. Mailman MD, et al. Among authors: prior tw. Hum Genet. 2001 Feb;108(2):109-15. doi: 10.1007/s004390000446. Hum Genet. 2001. PMID: 11281448

6

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD. Monani UR, et al. Among authors: prior tw. Hum Mol Genet. 1999 Jul;8(7):1177-83. doi: 10.1093/hmg/8.7.1177. Hum Mol Genet. 1999. PMID: 10369862

7

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.

8

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

9

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW. Mailman MD, et al. Among authors: prior tw. Genet Med. 2002 Jan-Feb;4(1):20-6. doi: 10.1097/00125817-200201000-00004. Genet Med. 2002. PMID: 11839954 Free article.

10

Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.

Prior TW, Nagan N. Prior TW, et al. Curr Protoc Hum Genet. 2016 Jan 1;88:9.27.1-9.27.13. doi: 10.1002/0471142905.hg0927s88. Curr Protoc Hum Genet. 2016. PMID: 26724723

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