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Items: 1 to 20 of 114


Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy.

Zhang Z, Pinto AM, Wan L, Wang W, Berg MG, Oliva I, Singh LN, Dengler C, Wei Z, Dreyfuss G.

Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19348-53. doi: 10.1073/pnas.1319280110. Epub 2013 Nov 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.


Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins.

Huo Q, Kayikci M, Odermatt P, Meyer K, Michels O, Saxena S, Ule J, Schümperli D.

RNA Biol. 2014;11(11):1430-46. doi: 10.1080/15476286.2014.996494.


Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells.

Maeda M, Harris AW, Kingham BF, Lumpkin CJ, Opdenaker LM, McCahan SM, Wang W, Butchbach ME.

PLoS One. 2014 Sep 5;9(9):e106818. doi: 10.1371/journal.pone.0106818. eCollection 2014.


Histologic and transcriptional assessment of a mild SMA model.

Balabanian S, Gendron NH, MacKenzie AE.

Neurol Res. 2007 Jul;29(5):413-24.


Synaptic defects in spinal muscular atrophy animal models.

Torres-Benito L, Ruiz R, Tabares L.

Dev Neurobiol. 2012 Jan;72(1):126-33. doi: 10.1002/dneu.20912. Review.


Proteomic assessment of a cell model of spinal muscular atrophy.

Wu CY, Whye D, Glazewski L, Choe L, Kerr D, Lee KH, Mason RW, Wang W.

BMC Neurosci. 2011 Mar 8;12:25. doi: 10.1186/1471-2202-12-25.


Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction.

Gogliotti RG, Quinlan KA, Barlow CB, Heier CR, Heckman CJ, Didonato CJ.

J Neurosci. 2012 Mar 14;32(11):3818-29. doi: 10.1523/JNEUROSCI.5775-11.2012.


SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy.

See K, Yadav P, Giegerich M, Cheong PS, Graf M, Vyas H, Lee SG, Mathavan S, Fischer U, Sendtner M, Winkler C.

Hum Mol Genet. 2014 Apr 1;23(7):1754-70. doi: 10.1093/hmg/ddt567. Epub 2013 Nov 11.


Survival of motor neuron gene downregulation by RNAi: towards a cell culture model of spinal muscular atrophy.

Trülzsch B, Davies K, Wood M.

Brain Res Mol Brain Res. 2004 Jan 5;120(2):145-50.


Mechanisms involved in spinal cord central synapse loss in a mouse model of spinal muscular atrophy.

Tarabal O, Caraballo-Miralles V, Cardona-Rossinyol A, Correa FJ, Olmos G, Lladó J, Esquerda JE, Calderó J.

J Neuropathol Exp Neurol. 2014 Jun;73(6):519-35. doi: 10.1097/NEN.0000000000000074.


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.


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.

Hum Mol Genet. 2000 Feb 12;9(3):333-9. Erratum in: Hum Mol Genet. 2007 Nov 1;16(21):2648. Rossol, W [corrected to Rossoll, W].


The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy.

Sleigh JN, Gillingwater TH, Talbot K.

Dis Model Mech. 2011 Jul;4(4):457-67. doi: 10.1242/dmm.007245. Review.


HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.

Hubers L, Valderrama-Carvajal H, Laframboise J, Timbers J, Sanchez G, Côté J.

Hum Mol Genet. 2011 Feb 1;20(3):553-79. doi: 10.1093/hmg/ddq500. Epub 2010 Nov 18.


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.


Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.

Jablonka S, Bandilla M, Wiese S, Bühler D, Wirth B, Sendtner M, Fischer U.

Hum Mol Genet. 2001 Mar 1;10(5):497-505.


Expression profiling in spinal muscular atrophy reveals an RNA binding protein deficit.

Anderson KN, Baban D, Oliver PL, Potter A, Davies KE.

Neuromuscul Disord. 2004 Nov;14(11):711-22.


Spinal muscular atrophy: the RNP connection.

Eggert C, Chari A, Laggerbauer B, Fischer U.

Trends Mol Med. 2006 Mar;12(3):113-21. Epub 2006 Feb 13.


A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA).

Luchetti A, Ciafrè SA, Murdocca M, Malgieri A, Masotti A, Sanchez M, Farace MG, Novelli G, Sangiuolo F.

Int J Mol Sci. 2015 Aug 6;16(8):18312-27. doi: 10.3390/ijms160818312.

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