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Results: 1 to 20 of 132

1.

Modeling spinal muscular atrophy in Drosophila.

Chang HC, Dimlich DN, Yokokura T, Mukherjee A, Kankel MW, Sen A, Sridhar V, Fulga TA, Hart AC, Van Vactor D, Artavanis-Tsakonas S.

PLoS One. 2008 Sep 15;3(9):e3209. doi: 10.1371/journal.pone.0003209.

PMID:
18791638
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.

Bowerman M, Murray LM, Beauvais A, Pinheiro B, Kothary R.

Neuromuscul Disord. 2012 Mar;22(3):263-76. doi: 10.1016/j.nmd.2011.09.007. Epub 2011 Nov 8.

PMID:
22071333
[PubMed - indexed for MEDLINE]
3.

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

Chan YB, Miguel-Aliaga I, Franks C, Thomas N, Trülzsch B, Sattelle DB, Davies KE, van den Heuvel M.

Hum Mol Genet. 2003 Jun 15;12(12):1367-76.

PMID:
12783845
[PubMed - indexed for MEDLINE]
Free Article
4.

Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy.

Martinez TL, Kong L, Wang X, Osborne MA, Crowder ME, Van Meerbeke JP, Xu X, Davis C, Wooley J, Goldhamer DJ, Lutz CM, Rich MM, Sumner CJ.

J Neurosci. 2012 Jun 20;32(25):8703-15. doi: 10.1523/JNEUROSCI.0204-12.2012.

PMID:
22723710
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene.

Park GH, Maeno-Hikichi Y, Awano T, Landmesser LT, Monani UR.

J Neurosci. 2010 Sep 8;30(36):12005-19. doi: 10.1523/JNEUROSCI.2208-10.2010.

PMID:
20826664
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression.

Goulet BB, Kothary R, Parks RJ.

Curr Mol Med. 2013 Aug;13(7):1160-74. Review.

PMID:
23514457
[PubMed - indexed for MEDLINE]
7.

Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy.

Lee AJ, Awano T, Park GH, Monani UR.

PLoS One. 2012;7(9):e46353. doi: 10.1371/journal.pone.0046353. Epub 2012 Sep 27.

PMID:
23029491
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy.

Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH.

Hum Mol Genet. 2008 Apr 1;17(7):949-62. Epub 2007 Dec 8.

PMID:
18065780
[PubMed - indexed for MEDLINE]
Free Article
9.

Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling.

Sen A, Yokokura T, Kankel MW, Dimlich DN, Manent J, Sanyal S, Artavanis-Tsakonas S.

J Cell Biol. 2011 Feb 7;192(3):481-95. doi: 10.1083/jcb.201004016.

PMID:
21300852
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Conserved genes act as modifiers of invertebrate SMN loss of function defects.

Dimitriadi M, Sleigh JN, Walker A, Chang HC, Sen A, Kalloo G, Harris J, Barsby T, Walsh MB, Satterlee JS, Li C, Van Vactor D, Artavanis-Tsakonas S, Hart AC.

PLoS Genet. 2010 Oct 28;6(10):e1001172. doi: 10.1371/journal.pgen.1001172.

PMID:
21124729
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Therapeutics development for spinal muscular atrophy.

Sumner CJ.

NeuroRx. 2006 Apr;3(2):235-45. Review.

PMID:
16554261
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Spinal muscular atrophy: present state.

Schmalbruch H, Haase G.

Brain Pathol. 2001 Apr;11(2):231-47. Review.

PMID:
11303798
[PubMed - indexed for MEDLINE]
13.

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.

Boon KL, Xiao S, McWhorter ML, Donn T, Wolf-Saxon E, Bohnsack MT, Moens CB, Beattie CE.

Hum Mol Genet. 2009 Oct 1;18(19):3615-25. doi: 10.1093/hmg/ddp310. Epub 2009 Jul 10.

PMID:
19592581
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Spinal muscular atrophy.

Vitte J, Attali R, Warwar N, Gurt I, Melki J.

Adv Exp Med Biol. 2009;652:237-46. doi: 10.1007/978-90-481-2813-6_16.

PMID:
20225030
[PubMed - indexed for MEDLINE]
15.

Therapy development for spinal muscular atrophy in SMN independent targets.

Tsai LK.

Neural Plast. 2012;2012:456478. doi: 10.1155/2012/456478. Epub 2012 May 31. Review.

PMID:
22701806
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons.

Paez-Colasante X, Seaberg B, Martinez TL, Kong L, Sumner CJ, Rimer M.

PLoS One. 2013 Sep 23;8(9):e75866. doi: 10.1371/journal.pone.0075866. eCollection 2013.

PMID:
24086650
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

Am J Hum Genet. 1998 Dec;63(6):1712-23.

PMID:
9837824
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The neuroprotective factor Wld(s) fails to mitigate distal axonal and neuromuscular junction (NMJ) defects in mouse models of spinal muscular atrophy.

Kariya S, Mauricio R, Dai Y, Monani UR.

Neurosci Lett. 2009 Jan 16;449(3):246-51. doi: 10.1016/j.neulet.2008.10.107. Epub 2008 Nov 8.

PMID:
19010394
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy.

Wishart TM, Mutsaers CA, Riessland M, Reimer MM, Hunter G, Hannam ML, Eaton SL, Fuller HR, Roche SL, Somers E, Morse R, Young PJ, Lamont DJ, Hammerschmidt M, Joshi A, Hohenstein P, Morris GE, Parson SH, Skehel PA, Becker T, Robinson IM, Becker CG, Wirth B, Gillingwater TH.

J Clin Invest. 2014 Apr;124(4):1821-34. doi: 10.1172/JCI71318. Epub 2014 Mar 3.

PMID:
24590288
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Molecular basis of spinal muscular atrophy: th SMN gene].

Tizzano E, Baiget M.

Neurologia. 2000 Nov;15(9):393-400. Review. Spanish.

PMID:
11195146
[PubMed - indexed for MEDLINE]
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