Burghes A - Search Results

1

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.

Wirth B, el-Agwany A, Baasner A, Burghes A, Koch A, Dadze A, Piechaczeck-Wappenschmidt B, Rudnik-Schöneborn S, Zerres K, Schönling J. Wirth B, et al. Among authors: burghes a. Eur J Hum Genet. 1995;3(1):56-60. doi: 10.1159/000472274. Eur J Hum Genet. 1995. PMID: 7767657

2

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, Zerres K, Burghes AH. Wirth B, et al. Among authors: burghes ah. Hum Mol Genet. 1995 Aug;4(8):1273-84. doi: 10.1093/hmg/4.8.1273. Hum Mol Genet. 1995. PMID: 7581364

3

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

4

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

5

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN.

Mohaghegh P, Rodrigues NR, Owen N, Ponting CP, Le TT, Burghes AH, Davies KE. Mohaghegh P, et al. Among authors: burghes ah. Eur J Hum Genet. 1999 Jul;7(5):519-25. doi: 10.1038/sj.ejhg.5200346. Eur J Hum Genet. 1999. PMID: 10439956

6

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K. Bertini E, et al. Among authors: burghes a. Neuromuscul Disord. 2005 Nov;15(11):802-16. doi: 10.1016/j.nmd.2005.07.005. Epub 2005 Oct 3. Neuromuscul Disord. 2005. PMID: 16202598 No abstract available.

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

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. Genet Med. 2002 Jan-Feb;4(1):20-6. doi: 10.1097/00125817-200201000-00004. Genet Med. 2002. PMID: 11839954 Free article.

9

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

10

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.

McLean MD, Roy N, MacKenzie AE, Salih M, Burghes AH, Simard L, Korneluk RG, Ikeda JE, Surh L. McLean MD, et al. Among authors: burghes ah. Hum Mol Genet. 1994 Nov;3(11):1951-6. doi: 10.1093/hmg/3.11.1951. Hum Mol Genet. 1994. PMID: 7874111

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