{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T12:32:57Z","timestamp":1792758777977,"version":"4.5.0"},"reference-count":102,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trends in Molecular Medicine"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1016\/j.molmed.2012.11.002","type":"journal-article","created":{"date-parts":[[2012,12,8]],"date-time":"2012-12-08T03:33:04Z","timestamp":1354937584000},"page":"40-50","source":"Crossref","is-referenced-by-count":357,"title":["Spinal muscular atrophy: going beyond the motor neuron"],"prefix":"10.1016","volume":"19","author":[{"given":"Gillian","family":"Hamilton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas H.","family":"Gillingwater","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.molmed.2012.11.002_bib0005","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.molmed.2012.11.002_bib0010","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/s00401-008-0411-1","article-title":"Pathogenesis of proximal autosomal recessive spinal muscular atrophy","volume":"116","author":"Simic","year":"2008","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0015","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2012.11.002_bib0020","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.molmed.2012.11.002_bib0025","doi-asserted-by":"crossref","first-page":"9920","DOI":"10.1073\/pnas.94.18.9920","article-title":"Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos","volume":"94","author":"Schrank","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.molmed.2012.11.002_bib0030","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldkotter","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0035","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/nrn2670","article-title":"Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?","volume":"10","author":"Burghes","year":"2009","journal-title":"Nat. Rev. Neurosci."},{"key":"10.1016\/j.molmed.2012.11.002_bib0040","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/S0092-8674(00)80367-0","article-title":"The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins","volume":"90","author":"Liu","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2012.11.002_bib0045","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/S0092-8674(00)80368-2","article-title":"The SMN\u2013SIP1 complex has an essential role in spliceosomal snRNP biogenesis","volume":"90","author":"Fischer","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2012.11.002_bib0050","doi-asserted-by":"crossref","first-page":"6533","DOI":"10.1128\/MCB.22.18.6533-6541.2002","article-title":"The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway","volume":"22","author":"Massenet","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0055","doi-asserted-by":"crossref","first-page":"e921","DOI":"10.1371\/journal.pone.0000921","article-title":"Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs","volume":"2","author":"Gabanella","year":"2007","journal-title":"PLoS ONE"},{"key":"10.1016\/j.molmed.2012.11.002_bib0060","doi-asserted-by":"crossref","first-page":"e1000773","DOI":"10.1371\/journal.pgen.1000773","article-title":"Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy","volume":"5","author":"Baumer","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0065","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1083\/jcb.200610053","article-title":"A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle","volume":"176","author":"Rajendra","year":"2007","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0070","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1073\/pnas.0610660104","article-title":"Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis","volume":"104","author":"Setola","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.molmed.2012.11.002_bib0075","doi-asserted-by":"crossref","first-page":"25782","DOI":"10.1074\/jbc.M112.362830","article-title":"Human axonal survival of motor neuron (a-SMN) protein stimulates axon growth, cell motility, C\u2013C motif ligand 2 (CCL2) and insulin-like growth factor-1 (IGF1) production","volume":"287","author":"Locatelli","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.molmed.2012.11.002_bib0080","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.brainres.2012.01.044","article-title":"Spinal muscular atrophy: the role of SMN in axonal mRNA regulation","volume":"1462","author":"Fallini","year":"2012","journal-title":"Brain Res."},{"key":"10.1016\/j.molmed.2012.11.002_bib0085","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1093\/hmg\/9.3.333","article-title":"The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(\u2212\/\u2212) mice and results in a mouse with spinal muscular atrophy","volume":"9","author":"Monani","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0090","doi-asserted-by":"crossref","first-page":"11014","DOI":"10.1523\/JNEUROSCI.1637-06.2006","article-title":"Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis","volume":"26","author":"Carrel","year":"2006","journal-title":"J. Neurosci."},{"key":"10.1016\/j.molmed.2012.11.002_bib0095","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1093\/hmg\/10.5.497","article-title":"Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy","volume":"10","author":"Jablonka","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0100","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1002\/j.1460-2075.1996.tb00725.x","article-title":"A novel nuclear structure containing the survival of motor neurons protein","volume":"15","author":"Liu","year":"1996","journal-title":"EMBO J."},{"key":"10.1016\/j.molmed.2012.11.002_bib0105","doi-asserted-by":"crossref","first-page":"5443","DOI":"10.1093\/emboj\/20.19.5443","article-title":"SMN interacts with a novel family of hnRNP and spliceosomal proteins","volume":"20","author":"Mourelatos","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.molmed.2012.11.002_bib0110","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200304128","article-title":"Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons","volume":"163","author":"Rossoll","year":"2003","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0115","doi-asserted-by":"crossref","first-page":"e17768","DOI":"10.1371\/journal.pone.0017768","article-title":"Axonal regeneration and neuronal function are preserved in motor neurons lacking ss-actin in vivo","volume":"6","author":"Cheever","year":"2011","journal-title":"PLoS ONE"},{"key":"10.1016\/j.molmed.2012.11.002_bib0120","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1242\/dmm.007245","article-title":"The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy","volume":"4","author":"Sleigh","year":"2011","journal-title":"Dis. Model Mech."},{"key":"10.1016\/j.molmed.2012.11.002_bib0125","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1093\/hmg\/9.5.849","article-title":"Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy","volume":"9","author":"Frugier","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0130","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/71709","article-title":"A mouse model for spinal muscular atrophy","volume":"24","author":"Hsieh-Li","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0135","doi-asserted-by":"crossref","first-page":"3615","DOI":"10.1093\/hmg\/ddp310","article-title":"Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects","volume":"18","author":"Boon","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0140","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1093\/hmg\/ddg157","article-title":"Neuromuscular defects in a Drosophila survival motor neuron gene mutant","volume":"12","author":"Chan","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0145","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1083\/jcb.200303168","article-title":"Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding","volume":"162","author":"McWhorter","year":"2003","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0150","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1093\/hmg\/ddm367","article-title":"Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy","volume":"17","author":"Murray","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0155","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/j.1365-2990.2010.01061.x","article-title":"Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy","volume":"36","author":"Murray","year":"2010","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0160","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1093\/hmg\/ddn156","article-title":"Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy","volume":"17","author":"Kariya","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0165","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.20473","article-title":"Natural history of denervation in SMA: relation to age, SMN2 copy number, and function","volume":"57","author":"Swoboda","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0170","doi-asserted-by":"crossref","first-page":"e3209","DOI":"10.1371\/journal.pone.0003209","article-title":"Modeling spinal muscular atrophy in Drosophila","volume":"3","author":"Chang","year":"2008","journal-title":"PLoS ONE"},{"key":"10.1016\/j.molmed.2012.11.002_bib0175","doi-asserted-by":"crossref","first-page":"2900","DOI":"10.1093\/hmg\/ddn189","article-title":"Embryonic motor axon development in the severe SMA mouse","volume":"17","author":"McGovern","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0180","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1093\/hmg\/ddp506","article-title":"Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy","volume":"19","author":"Murray","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0185","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1093\/hmg\/11.12.1439","article-title":"Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model","volume":"11","author":"Cifuentes-Diaz","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0190","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ydbio.2011.05.667","article-title":"Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons","volume":"356","author":"Lee","year":"2011","journal-title":"Dev. Biol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0195","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1523\/JNEUROSCI.4434-08.2009","article-title":"Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice","volume":"29","author":"Kong","year":"2009","journal-title":"J. Neurosci."},{"key":"10.1016\/j.molmed.2012.11.002_bib0200","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/hmg\/ddr453","article-title":"Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy","volume":"21","author":"Ling","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0205","doi-asserted-by":"crossref","first-page":"3818","DOI":"10.1523\/JNEUROSCI.5775-11.2012","article-title":"Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction","volume":"32","author":"Gogliotti","year":"2012","journal-title":"J. Neurosci."},{"key":"10.1016\/j.molmed.2012.11.002_bib0210","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1523\/JNEUROSCI.4496-09.2010","article-title":"Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice","volume":"30","author":"Ruiz","year":"2010","journal-title":"J. Neurosci."},{"key":"10.1016\/j.molmed.2012.11.002_bib0215","doi-asserted-by":"crossref","first-page":"12005","DOI":"10.1523\/JNEUROSCI.2208-10.2010","article-title":"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","volume":"30","author":"Park","year":"2010","journal-title":"J. Neurosci."},{"key":"10.1016\/j.molmed.2012.11.002_bib0220","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/S0960-8966(97)00047-3","article-title":"Disturbances of neuromuscular interaction may contribute to muscle weakness in spinal muscular atrophy","volume":"7","author":"Greensmith","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.molmed.2012.11.002_bib0225","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1097\/NEN.0b013e3181a10ea1","article-title":"The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation","volume":"68","author":"Martinez-Hernandez","year":"2009","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0230","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1038\/labinvest.3700163","article-title":"Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients","volume":"84","author":"Arnold","year":"2004","journal-title":"Lab. Invest."},{"key":"10.1016\/j.molmed.2012.11.002_bib0235","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/S0140-6736(95)90869-2","article-title":"Constitutive muscular abnormalities in culture in spinal muscular atrophy","volume":"345","author":"Braun","year":"1995","journal-title":"Lancet"},{"key":"10.1016\/j.molmed.2012.11.002_bib0240","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.yexcr.2005.08.019","article-title":"Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology","volume":"311","author":"Shafey","year":"2005","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.molmed.2012.11.002_bib0245","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1083\/jcb.152.5.1107","article-title":"Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy","volume":"152","author":"Cifuentes-Diaz","year":"2001","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0250","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1093\/hmg\/ddm379","article-title":"Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect","volume":"17","author":"Gavrilina","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0255","doi-asserted-by":"crossref","first-page":"8703","DOI":"10.1523\/JNEUROSCI.0204-12.2012","article-title":"Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy","volume":"32","author":"Martinez","year":"2012","journal-title":"J. Neurosci."},{"key":"10.1016\/j.molmed.2012.11.002_bib0260","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.ydbio.2012.05.037","article-title":"A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein","volume":"368","author":"Hayhurst","year":"2012","journal-title":"Dev. Biol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0265","doi-asserted-by":"crossref","first-page":"4334","DOI":"10.1093\/hmg\/ddr360","article-title":"Reversible molecular pathology of skeletal muscle in spinal muscular atrophy","volume":"20","author":"Mutsaers","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0270","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1212\/01.WNL.0000052788.39340.45","article-title":"Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy","volume":"60","author":"Rudnik-Schoneborn","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.molmed.2012.11.002_bib0275","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1093\/hmg\/ddi467","article-title":"Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy","volume":"15","author":"Jablonka","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0280","doi-asserted-by":"crossref","first-page":"e15457","DOI":"10.1371\/journal.pone.0015457","article-title":"Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy","volume":"5","author":"Ling","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.molmed.2012.11.002_bib0285","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.neuron.2010.12.032","article-title":"Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy","volume":"69","author":"Mentis","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.molmed.2012.11.002_bib0290","doi-asserted-by":"crossref","first-page":"4216","DOI":"10.1093\/hmg\/ddq340","article-title":"SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy","volume":"19","author":"Wishart","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0295","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0387-7604(03)00075-5","article-title":"Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings","volume":"26","author":"Ito","year":"2004","journal-title":"Brain Dev."},{"key":"10.1016\/j.molmed.2012.11.002_bib0300","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/BF00685353","article-title":"A neuropathologic study of Werdnig\u2013Hoffmann disease with special reference to the thalamus and posterior roots","volume":"60","author":"Shishikura","year":"1983","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0305","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/jmg.2008.057950","article-title":"Congenital heart disease is a feature of severe infantile spinal muscular atrophy","volume":"45","author":"Rudnik-Schoneborn","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0310","doi-asserted-by":"crossref","first-page":"3895","DOI":"10.1093\/hmg\/ddq300","article-title":"Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery","volume":"19","author":"Bevan","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0315","doi-asserted-by":"crossref","first-page":"3906","DOI":"10.1093\/hmg\/ddq330","article-title":"Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice","volume":"19","author":"Heier","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0320","doi-asserted-by":"crossref","first-page":"4059","DOI":"10.1093\/hmg\/ddq329","article-title":"Cardiac defects contribute to the pathology of spinal muscular atrophy models","volume":"19","author":"Shababi","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0325","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.yjmcc.2012.01.005","article-title":"Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy","volume":"52","author":"Shababi","year":"2012","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0330","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.jpeds.2009.01.071","article-title":"Vascular perfusion abnormalities in infants with spinal muscular atrophy","volume":"155","author":"Araujo Ade","year":"2009","journal-title":"J. Pediatr."},{"key":"10.1016\/j.molmed.2012.11.002_bib0335","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/mus.21654","article-title":"Digital necroses and vascular thrombosis in severe spinal muscular atrophy","volume":"42","author":"Rudnik-Schoneborn","year":"2010","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.molmed.2012.11.002_bib0340","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","article-title":"Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN","volume":"28","author":"Foust","year":"2010","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0345","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1002\/ana.21449","article-title":"Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition","volume":"64","author":"Narver","year":"2008","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0350","doi-asserted-by":"crossref","first-page":"35ra42","DOI":"10.1126\/scitranslmed.3000830","article-title":"Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy","volume":"2","author":"Valori","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.molmed.2012.11.002_bib0355","doi-asserted-by":"crossref","DOI":"10.1038\/ejhg.2012.222","article-title":"Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585","author":"Schreml","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0360","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.nmd.2011.10.021","article-title":"Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy","volume":"22","author":"Somers","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.molmed.2012.11.002_bib0365","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1177\/0883073807305664","article-title":"Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling","volume":"22","author":"Shanmugarajan","year":"2007","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0370","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/path.2566","article-title":"Bone loss in survival motor neuron (Smn(\u2212\/\u2212) SMN2) genetic mouse model of spinal muscular atrophy","volume":"219","author":"Shanmugarajan","year":"2009","journal-title":"J. Pathol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0375","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1177\/088307380201700915","article-title":"Severe spinal muscular atrophy variant associated with congenital bone fractures","volume":"17","author":"Felderhoff-Mueser","year":"2002","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0380","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<65::AID-AJMG13>3.0.CO;2-5","article-title":"Spinal muscular atrophy variant with congenital fractures","volume":"87","author":"Kelly","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0385","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1177\/088307380201700916","article-title":"Spinal muscular atrophy with congenital fractures: postmortem analysis","volume":"17","author":"Van Toorn","year":"2002","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0390","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ana.23582","article-title":"Glucose metabolism and pancreatic defects in spinal muscular atrophy","volume":"72","author":"Bowerman","year":"2012","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0395","doi-asserted-by":"crossref","first-page":"1731","DOI":"10.1016\/S0002-9440(10)63428-1","article-title":"Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload","volume":"165","author":"Vitte","year":"2004","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0400","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1038\/nature10485","article-title":"Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model","volume":"478","author":"Hua","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.molmed.2012.11.002_bib0405","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.nmd.2010.09.010","article-title":"Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy","volume":"21","author":"Parra","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.molmed.2012.11.002_bib0410","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.molmed.2011.01.002","article-title":"Prospects for the gene therapy of spinal muscular atrophy","volume":"17","author":"Passini","year":"2011","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.molmed.2012.11.002_bib0415","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1172\/JCI29562","article-title":"Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy","volume":"117","author":"Avila","year":"2007","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2012.11.002_bib0420","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1101\/gad.1941310","article-title":"Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model","volume":"24","author":"Hua","year":"2010","journal-title":"Genes Dev."},{"key":"10.1016\/j.molmed.2012.11.002_bib0425","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/mt.2011.232","article-title":"Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy","volume":"20","author":"Osman","year":"2012","journal-title":"Mol. Ther."},{"key":"10.1016\/j.molmed.2012.11.002_bib0430","doi-asserted-by":"crossref","first-page":"72ra18","DOI":"10.1126\/scitranslmed.3001777","article-title":"Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy","volume":"3","author":"Passini","year":"2011","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.molmed.2012.11.002_bib0435","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1093\/hmg\/ddr600","article-title":"A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse","volume":"21","author":"Porensky","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0440","doi-asserted-by":"crossref","first-page":"7633","DOI":"10.1523\/JNEUROSCI.0950-09.2009","article-title":"Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy","volume":"29","author":"Williams","year":"2009","journal-title":"J. Neurosci."},{"key":"10.1016\/j.molmed.2012.11.002_bib0445","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1038\/mt.2009.71","article-title":"Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons","volume":"17","author":"Duque","year":"2009","journal-title":"Mol. Ther."},{"key":"10.1016\/j.molmed.2012.11.002_bib0450","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1172\/JCI41615","article-title":"CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy","volume":"120","author":"Passini","year":"2010","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2012.11.002_bib0455","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1093\/hmg\/ddq514","article-title":"Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice","volume":"20","author":"Dominguez","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0460","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1089\/hum.2011.166","article-title":"Decreasing disease severity in symptomatic, Smn(\u2212\/\u2212);SMN2(+\/+), spinal muscular atrophy mice following scAAV9-SMN delivery","volume":"23","author":"Glascock","year":"2012","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.molmed.2012.11.002_bib0465","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/j.bbrc.2011.11.121","article-title":"Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy","volume":"417","author":"Glascock","year":"2012","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.molmed.2012.11.002_bib0470","doi-asserted-by":"crossref","first-page":"3578","DOI":"10.1093\/hmg\/ddr275","article-title":"Temporal requirement for high SMN expression in SMA mice","volume":"20","author":"Le","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0475","doi-asserted-by":"crossref","first-page":"3029","DOI":"10.1172\/JCI57291","article-title":"Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy","volume":"121","author":"Lutz","year":"2011","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2012.11.002_bib0480","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1038\/mt.2011.157","article-title":"Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders","volume":"19","author":"Bevan","year":"2011","journal-title":"Mol. Ther."},{"key":"10.1016\/j.molmed.2012.11.002_bib0485","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1007\/s11248-011-9496-8","article-title":"Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA","volume":"20","author":"Lorson","year":"2011","journal-title":"Transgenic Res."},{"key":"10.1016\/j.molmed.2012.11.002_bib0490","doi-asserted-by":"crossref","first-page":"1492","DOI":"10.1093\/hmg\/ddq023","article-title":"SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy","volume":"19","author":"Riessland","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0495","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/hmg\/ddi078","article-title":"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","volume":"14","author":"Le","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2012.11.002_bib0500","doi-asserted-by":"crossref","DOI":"10.1016\/j.braindev.2012.03.009","article-title":"Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy","author":"Yonekawa","year":"2012","journal-title":"Brain Dev."},{"key":"10.1016\/j.molmed.2012.11.002_bib0505","first-page":"175","article-title":"Cardiac involvement in patients with spinal muscular atrophies","volume":"30","author":"Palladino","year":"2011","journal-title":"Acta Myol."},{"key":"10.1016\/j.molmed.2012.11.002_bib0510","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.mcn.2009.05.009","article-title":"SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis","volume":"42","author":"Bowerman","year":"2009","journal-title":"Mol. Cell. Neurosci."}],"container-title":["Trends in Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471491412002109?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471491412002109?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,6]],"date-time":"2019-07-06T17:09:50Z","timestamp":1562432990000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1471491412002109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1]]},"references-count":102,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["S1471491412002109"],"URL":"https:\/\/doi.org\/10.1016\/j.molmed.2012.11.002","relation":{},"ISSN":["1471-4914"],"issn-type":[{"value":"1471-4914","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1]]}}}