Burghes AH - Search Results

1

Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration.

Arnold WD, Duque S, Iyer CC, Zaworski P, McGovern VL, Taylor SJ, von Herrmann KM, Kobayashi DT, Chen KS, Kolb SJ, Paushkin SV, Burghes AH. Arnold WD, et al. Among authors: burghes ah. PLoS One. 2016 Dec 1;11(12):e0167077. doi: 10.1371/journal.pone.0167077. eCollection 2016. PLoS One. 2016. PMID: 27907033 Free PMC article.

2

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: burghes ah. Hum Mol Genet. 2000 Feb 12;9(3):333-9. doi: 10.1093/hmg/9.3.333. Hum Mol Genet. 2000. PMID: 10655541

3

The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.

Le TT, Coovert DD, Monani UR, Morris GE, Burghes AH. Le TT, et al. Among authors: burghes ah. Neurogenetics. 2000 Sep;3(1):7-16. doi: 10.1007/s100480000090. Neurogenetics. 2000. PMID: 11085591

4

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

Monani UR, Pastore MT, Gavrilina TO, Jablonka S, Le TT, Andreassi C, DiCocco JM, Lorson C, Androphy EJ, Sendtner M, Podell M, Burghes AH. Monani UR, et al. Among authors: burghes ah. J Cell Biol. 2003 Jan 6;160(1):41-52. doi: 10.1083/jcb.200208079. Epub 2003 Jan 6. J Cell Biol. 2003. PMID: 12515823 Free PMC article.

5

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

McWhorter ML, Monani UR, Burghes AH, Beattie CE. McWhorter ML, et al. Among authors: burghes ah. J Cell Biol. 2003 Sep 1;162(5):919-31. doi: 10.1083/jcb.200303168. J Cell Biol. 2003. PMID: 12952942 Free PMC article.

6

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.

Le TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH. Le TT, et al. Among authors: burghes ah. Hum Mol Genet. 2005 Mar 15;14(6):845-57. doi: 10.1093/hmg/ddi078. Epub 2005 Feb 9. Hum Mol Genet. 2005. PMID: 15703193

7

The SMN binding protein Gemin2 is not involved in motor axon outgrowth.

McWhorter ML, Boon KL, Horan ES, Burghes AH, Beattie CE. McWhorter ML, et al. Among authors: burghes ah. Dev Neurobiol. 2008 Feb 1;68(2):182-94. doi: 10.1002/dneu.20582. Dev Neurobiol. 2008. PMID: 18000835

8

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.

Gavrilina TO, McGovern VL, Workman E, Crawford TO, Gogliotti RG, DiDonato CJ, Monani UR, Morris GE, Burghes AH. Gavrilina TO, et al. Among authors: burghes ah. Hum Mol Genet. 2008 Apr 15;17(8):1063-75. doi: 10.1093/hmg/ddm379. Epub 2008 Jan 4. Hum Mol Genet. 2008. PMID: 18178576 Free PMC article.

9

Embryonic motor axon development in the severe SMA mouse.

McGovern VL, Gavrilina TO, Beattie CE, Burghes AH. McGovern VL, et al. Among authors: burghes ah. Hum Mol Genet. 2008 Sep 15;17(18):2900-9. doi: 10.1093/hmg/ddn189. Epub 2008 Jul 3. Hum Mol Genet. 2008. PMID: 18603534 Free PMC article.

10

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.

Workman E, Saieva L, Carrel TL, Crawford TO, Liu D, Lutz C, Beattie CE, Pellizzoni L, Burghes AH. Workman E, et al. Among authors: burghes ah. Hum Mol Genet. 2009 Jun 15;18(12):2215-29. doi: 10.1093/hmg/ddp157. Epub 2009 Mar 27. Hum Mol Genet. 2009. PMID: 19329542 Free PMC article.

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