Burghes AH - Search Results

1

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN.

Foust KD, Wang X, McGovern VL, Braun L, Bevan AK, Haidet AM, Le TT, Morales PR, Rich MM, Burghes AH, Kaspar BK. Foust KD, et al. Among authors: burghes ah. Nat Biotechnol. 2010 Mar;28(3):271-4. doi: 10.1038/nbt.1610. Epub 2010 Feb 28. Nat Biotechnol. 2010. Retraction in: Nat Biotechnol. 2022 Nov;40(11):1692. doi: 10.1038/s41587-022-01497-7 PMID: 20190738 Free PMC article. Retracted.

2

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

3

Gene delivery to spinal motor neurons.

Sahenk Z, Seharaseyon J, Mendell JR, Burghes AH. Sahenk Z, et al. Among authors: burghes ah. Brain Res. 1993 Mar 19;606(1):126-9. doi: 10.1016/0006-8993(93)91579-h. Brain Res. 1993. PMID: 8461993

4

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

5

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

6

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.

7

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

8

SMN oligomerization defect correlates with spinal muscular atrophy severity.

Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ. Lorson CL, et al. Among authors: burghes ah. Nat Genet. 1998 May;19(1):63-6. doi: 10.1038/ng0598-63. Nat Genet. 1998. PMID: 9590291

9

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.

10

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW. Parsons DW, et al. Among authors: burghes ah. Am J Hum Genet. 1998 Dec;63(6):1712-23. doi: 10.1086/302160. Am J Hum Genet. 1998. PMID: 9837824 Free PMC article.

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