{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:22:13Z","timestamp":1791894133167,"version":"4.3.4"},"reference-count":140,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100009983","name":"Center for Molecular Medicine Cologne, University of Cologne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009983","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007721","name":"Cure SMA","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007721","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmn.com","cell.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Trends in Neurosciences"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1016\/j.tins.2020.11.009","type":"journal-article","created":{"date-parts":[[2021,1,8]],"date-time":"2021-01-08T16:28:06Z","timestamp":1610123286000},"page":"306-322","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":181,"title":["Spinal Muscular Atrophy: In the Challenge Lies a Solution"],"prefix":"10.1016","volume":"44","author":[{"given":"Brunhilde","family":"Wirth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.tins.2020.11.009_bb0005","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.tins.2020.11.009_bb0010","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.tins.2020.11.009_bb0015","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0140-6736(90)91803-I","article-title":"Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators","volume":"336","author":"Melki","year":"1990","journal-title":"Lancet"},{"key":"10.1016\/j.tins.2020.11.009_bb0020","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/344767a0","article-title":"Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q","volume":"344","author":"Melki","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.tins.2020.11.009_bb0025","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1159\/000472274","article-title":"Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites","volume":"3","author":"Wirth","year":"1995","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0030","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/0888-7543(95)80162-F","article-title":"Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays","volume":"26","author":"Roy","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/j.tins.2020.11.009_bb0035","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/s41559-016-0069","article-title":"The evolution and population diversity of human-specific segmental duplications","volume":"1","author":"Dennis","year":"2017","journal-title":"Nat. Ecol. Evol."},{"key":"10.1016\/j.tins.2020.11.009_bb0040","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1126\/science.7910982","article-title":"De novo and inherited deletions of the 5q13 region in spinal muscular atrophies","volume":"264","author":"Melki","year":"1994","journal-title":"Science"},{"key":"10.1016\/j.tins.2020.11.009_bb0045","first-page":"1218","article-title":"Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy","volume":"55","author":"DiDonato","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0050","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.tins.2020.11.009_bb0055","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0092-8674(95)90461-1","article-title":"The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy","volume":"80","author":"Roy","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.tins.2020.11.009_bb0060","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1146\/annurev-genom-102319-103602","article-title":"Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next","volume":"21","author":"Wirth","year":"2020","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0065","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.tins.2020.11.009_bb0070","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1007\/s00415-017-8549-1","article-title":"A multi-source approach to determine SMA incidence and research ready population","volume":"264","author":"Verhaart","year":"2017","journal-title":"J. Neurol."},{"key":"10.1016\/j.tins.2020.11.009_bb0075","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.tins.2020.11.009_bb0080","first-page":"1057","article-title":"Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease","volume":"59","author":"Hahnen","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0085","first-page":"834","article-title":"Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5","volume":"59","author":"van der Steege","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0090","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1086\/301608","article-title":"De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling","volume":"61","author":"Wirth","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0095","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1212\/01.wnl.0000233830.85206.1e","article-title":"SMN1 gene, but not SMN2, is a risk factor for sporadic ALS","volume":"67","author":"Corcia","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2020.11.009_bb0100","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.tins.2020.11.009_bb0105","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","article-title":"Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number","volume":"119","author":"Wirth","year":"2006","journal-title":"Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0110","doi-asserted-by":"crossref","first-page":"97","DOI":"10.3233\/JND-190468","article-title":"Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2","volume":"7","author":"Glascock","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.tins.2020.11.009_bb0115","doi-asserted-by":"crossref","first-page":"145","DOI":"10.3233\/JND-180304","article-title":"Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening","volume":"5","author":"Glascock","year":"2018","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.tins.2020.11.009_bb0120","series-title":"Spinal Muscular Atrophy","first-page":"191","article-title":"Spinal muscular atrophy disease modifiers","author":"Wirth","year":"2017"},{"key":"10.1016\/j.tins.2020.11.009_bb0125","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1093\/brain\/awz373","article-title":"ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy","volume":"143","author":"Kannan","year":"2020","journal-title":"Brain"},{"key":"10.1016\/j.tins.2020.11.009_bb0130","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1212\/WNL.0000000000007836","article-title":"Discrepancy in redetermination of SMN2 copy numbers in children with SMA","volume":"93","author":"Schorling","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2020.11.009_bb0135","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3233\/JND-200475","article-title":"Infants diagnosed with spinal muscular atrophy and 4 SMN2 copies through newborn screening \u2013 opportunity or burden?","volume":"7","author":"Muller-Felber","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.tins.2020.11.009_bb0140","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.gde.2013.03.003","article-title":"How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches","volume":"23","author":"Wirth","year":"2013","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.tins.2020.11.009_bb0145","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.tins.2020.11.009_bb0150","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.ajhg.2017.01.005","article-title":"Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis","volume":"100","author":"Riessland","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0155","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.nmd.2011.03.009","article-title":"Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings","volume":"21","author":"Bernal","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.tins.2020.11.009_bb0160","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1038\/s41467-018-03694-y","article-title":"Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome","volume":"9","author":"Bonora","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.tins.2020.11.009_bb0165","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1007\/s00018-015-2084-y","article-title":"Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals","volume":"73","author":"Heesen","year":"2016","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.tins.2020.11.009_bb0170","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1056\/NEJMoa1308223","article-title":"PLS3 mutations in X-linked osteoporosis with fractures","volume":"369","author":"van Dijk","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.tins.2020.11.009_bb0175","first-page":"4249","article-title":"Plastin 3 influences bone homeostasis through regulation of osteoclast activity","volume":"27","author":"Neugebauer","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0180","doi-asserted-by":"crossref","first-page":"19","DOI":"10.3389\/fnmol.2019.00019","article-title":"Neurocalcin delta knockout impairs adult neurogenesis whereas half reduction is not pathological","volume":"12","author":"Upadhyay","year":"2019","journal-title":"Front. Mol. Neurosci."},{"key":"10.1016\/j.tins.2020.11.009_bb0185","doi-asserted-by":"crossref","first-page":"8326","DOI":"10.1093\/nar\/gky641","article-title":"Combined deficiency of senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy","volume":"46","author":"Kannan","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.tins.2020.11.009_bb0190","doi-asserted-by":"crossref","DOI":"10.1177\/1179069519867915","article-title":"ZPR1-dependent neurodegeneration is mediated by the JNK signaling pathway","volume":"13","author":"Jiang","year":"2019","journal-title":"J. Exp. Neurosci."},{"key":"10.1016\/j.tins.2020.11.009_bb0195","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1186\/s12915-020-00845-w","article-title":"Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy","volume":"18","author":"Walsh","year":"2020","journal-title":"BMC Biol."},{"key":"10.1016\/j.tins.2020.11.009_bb0200","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1186\/s40478-019-0806-3","article-title":"Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy","volume":"7","author":"Rehorst","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"10.1016\/j.tins.2020.11.009_bb0205","doi-asserted-by":"crossref","first-page":"7907","DOI":"10.1038\/s41598-018-26347-y","article-title":"Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy","volume":"8","author":"Goncalves","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.tins.2020.11.009_bb0210","doi-asserted-by":"crossref","first-page":"2343","DOI":"10.1093\/brain\/awy167","article-title":"CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis","volume":"141","author":"Janzen","year":"2018","journal-title":"Brain"},{"key":"10.1016\/j.tins.2020.11.009_bb0215","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.bbrc.2020.07.031","article-title":"AAV9-DOK7 gene therapy reduces disease severity in Smn2B\/- SMA model mice","volume":"530","author":"Kaifer","year":"2020","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.tins.2020.11.009_bb0220","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1093\/hmg\/ddx124","article-title":"Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice","volume":"26","author":"Kim","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0225","doi-asserted-by":"crossref","first-page":"3199","DOI":"10.1093\/hmg\/ddz142","article-title":"AAV9-mediated delivery of miR-23a reduces disease severity in Smn2B\/- SMA model mice","volume":"28","author":"Kaifer","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0230","doi-asserted-by":"crossref","first-page":"2878","DOI":"10.1093\/brain\/awy237","article-title":"UBA1\/GARS-dependent pathways drive sensory\u2013motor connectivity defects in spinal muscular atrophy","volume":"141","author":"Shorrock","year":"2018","journal-title":"Brain"},{"key":"10.1016\/j.tins.2020.11.009_bb0235","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.tins.2020.11.009_bb0240","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng854","article-title":"Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1","volume":"30","author":"Cartegni","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0245","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1038\/ng1207","article-title":"A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy","volume":"34","author":"Kashima","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0250","doi-asserted-by":"crossref","first-page":"9618","DOI":"10.1073\/pnas.160181697","article-title":"Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)","volume":"97","author":"Hofmann","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tins.2020.11.009_bb0255","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-3-319-89689-2_2","article-title":"Mechanism of splicing regulation of spinal muscular atrophy genes","volume":"20","author":"Singh","year":"2018","journal-title":"Adv. Neurobiol."},{"key":"10.1016\/j.tins.2020.11.009_bb0260","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1128\/MCB.26.4.1333-1346.2006","article-title":"Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron","volume":"26","author":"Singh","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.tins.2020.11.009_bb0265","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2008.01.014","article-title":"Antisense masking of an hnRNP A1\/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice","volume":"82","author":"Hua","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0270","doi-asserted-by":"crossref","first-page":"2973","DOI":"10.1038\/s41467-020-16806-4","article-title":"CRISPR artificial splicing factors","volume":"11","author":"Du","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.tins.2020.11.009_bb0275","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.tins.2020.11.009_bb0280","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.tins.2020.11.009_bb0285","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/S0092-8674(00)81632-3","article-title":"A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing","volume":"95","author":"Pellizzoni","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.tins.2020.11.009_bb0290","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.spen.2006.06.008","article-title":"Spinal muscular atrophy: from gene to therapy","volume":"13","author":"Wirth","year":"2006","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.tins.2020.11.009_bb0295","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.bbagrm.2016.12.008","article-title":"Diverse role of survival motor neuron protein","volume":"1860","author":"Singh","year":"2017","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.tins.2020.11.009_bb0300","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.tins.2020.11.009_bb0305","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1080\/14789450.2017.1345631","article-title":"Advances in understanding the role of disease-associated proteins in spinal muscular atrophy","volume":"14","author":"Hosseinibarkooie","year":"2017","journal-title":"Expert Rev. Proteomics"},{"key":"10.1016\/j.tins.2020.11.009_bb0310","doi-asserted-by":"crossref","first-page":"3877","DOI":"10.1007\/s00018-018-2849-1","article-title":"The role of survival motor neuron protein (SMN) in protein homeostasis","volume":"75","author":"Chaytow","year":"2018","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.tins.2020.11.009_bb0315","doi-asserted-by":"crossref","first-page":"8691","DOI":"10.1523\/JNEUROSCI.0417-15.2015","article-title":"Disease mechanisms and therapeutic approaches in spinal muscular atrophy","volume":"35","author":"Tisdale","year":"2015","journal-title":"J. Neurosci."},{"key":"10.1016\/j.tins.2020.11.009_bb0320","doi-asserted-by":"crossref","first-page":"3767","DOI":"10.1016\/j.celrep.2017.12.003","article-title":"Converging mechanisms of p53 activation drive motor neuron degeneration in spinal muscular atrophy","volume":"21","author":"Simon","year":"2017","journal-title":"Cell Rep."},{"key":"10.1016\/j.tins.2020.11.009_bb0325","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1101\/gad.974702","article-title":"miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs","volume":"16","author":"Mourelatos","year":"2002","journal-title":"Genes Dev."},{"key":"10.1016\/j.tins.2020.11.009_bb0330","doi-asserted-by":"crossref","first-page":"3811","DOI":"10.1523\/JNEUROSCI.2396-15.2016","article-title":"Deficiency of the survival of motor neuron protein impairs mRNA localization and local translation in the growth cone of motor neurons","volume":"36","author":"Fallini","year":"2016","journal-title":"J. Neurosci."},{"key":"10.1016\/j.tins.2020.11.009_bb0335","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/37144","article-title":"Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy","volume":"390","author":"Iwahashi","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.tins.2020.11.009_bb0340","doi-asserted-by":"crossref","first-page":"3008","DOI":"10.1172\/JCI95231","article-title":"Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes","volume":"128","author":"Rodriguez-Muela","year":"2018","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.tins.2020.11.009_bb0345","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.mcn.2014.06.006","article-title":"Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy","volume":"61","author":"Custer","year":"2014","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.tins.2020.11.009_bb0350","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1007\/s00439-017-1835-2","article-title":"SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities","volume":"136","author":"Dominguez","year":"2017","journal-title":"Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0355","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.jphs.2020.09.001","article-title":"Survival motor neuron protein regulates oxidative stress and inflammatory response in microglia of the spinal cord in spinal muscular atrophy","volume":"144","author":"Ando","year":"2020","journal-title":"J. Pharmacol. Sci."},{"key":"10.1016\/j.tins.2020.11.009_bb0360","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1101\/gad.316059.118","article-title":"Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy","volume":"32","author":"Van Alstyne","year":"2018","journal-title":"Genes Dev."},{"key":"10.1016\/j.tins.2020.11.009_bb0365","doi-asserted-by":"crossref","first-page":"6318","DOI":"10.1093\/hmg\/ddu350","article-title":"SMN regulates axonal local translation via miR-183\/mTOR pathway","volume":"23","author":"Kye","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0370","series-title":"Spinal Muscular Atrophy","first-page":"133","article-title":"Axonal and neuromuscular junction pathology in spinal muscular atrophy","author":"Boyd","year":"2017"},{"key":"10.1016\/j.tins.2020.11.009_bb0375","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.neuron.2010.12.032","article-title":"Early functional impairment of sensory\u2013motor connectivity in a mouse model of spinal muscular atrophy","volume":"69","author":"Mentis","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.tins.2020.11.009_bb0380","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.cell.2012.09.012","article-title":"An SMN-dependent U12 splicing event essential for motor circuit function","volume":"151","author":"Lotti","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.tins.2020.11.009_bb0385","doi-asserted-by":"crossref","first-page":"3885","DOI":"10.1016\/j.celrep.2019.11.058","article-title":"Stasimon contributes to the loss of sensory synapses and motor neuron death in a mouse model of spinal muscular atrophy","volume":"29","author":"Simon","year":"2019","journal-title":"Cell Rep."},{"key":"10.1016\/j.tins.2020.11.009_bb0390","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.130574","article-title":"Minor snRNA gene delivery improves the loss of proprioceptive synapses on SMA motor neurons","volume":"5","author":"Osman","year":"2020","journal-title":"JCI Insight"},{"key":"10.1016\/j.tins.2020.11.009_bb0395","doi-asserted-by":"crossref","first-page":"19348","DOI":"10.1073\/pnas.1319280110","article-title":"Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy","volume":"110","author":"Zhang","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tins.2020.11.009_bb0400","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1093\/nar\/gkw731","article-title":"RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns","volume":"45","author":"Doktor","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.tins.2020.11.009_bb0405","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1172\/JCI71318","article-title":"Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy","volume":"124","author":"Wishart","year":"2014","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.tins.2020.11.009_bb0410","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1093\/hmg\/dds540","article-title":"Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality","volume":"22","author":"Ackermann","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0415","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/mt.2014.209","article-title":"PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy","volume":"23","author":"Little","year":"2015","journal-title":"Mol. Ther."},{"key":"10.1016\/j.tins.2020.11.009_bb0420","doi-asserted-by":"crossref","first-page":"308","DOI":"10.3389\/fnmol.2018.00308","article-title":"Pharmacological c-Jun NH2-terminal kinase (JNK) pathway inhibition reduces severity of spinal muscular atrophy disease in mice","volume":"11","author":"Schellino","year":"2018","journal-title":"Front. Mol. Neurosci."},{"key":"10.1016\/j.tins.2020.11.009_bb0425","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0132364","article-title":"Plastin 3 expression does not modify spinal muscular atrophy severity in the \u22067 SMA mouse","volume":"10","author":"McGovern","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.tins.2020.11.009_bb0430","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.molmed.2012.11.002","article-title":"Spinal muscular atrophy: going beyond the motor neuron","volume":"19","author":"Hamilton","year":"2013","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.tins.2020.11.009_bb0435","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.89970","article-title":"Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophy","volume":"2","author":"Kaifer","year":"2017","journal-title":"JCI Insight"},{"key":"10.1016\/j.tins.2020.11.009_bb0440","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.ebiom.2018.04.024","article-title":"Interventions targeting glucocorticoid-Kr\u00fcppel-like factor 15-branched-chain amino acid signaling improve disease phenotypes in spinal muscular atrophy mice","volume":"31","author":"Walter","year":"2018","journal-title":"EBioMedicine"},{"key":"10.1016\/j.tins.2020.11.009_bb0445","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.ajhg.2016.07.014","article-title":"The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype","volume":"99","author":"Hosseinibarkooie","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0450","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0455","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1093\/hmg\/6.8.1205","article-title":"The survival motor neuron protein in spinal muscular atrophy","volume":"6","author":"Coovert","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0460","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1093\/hmg\/ddy195","article-title":"Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy","volume":"27","author":"Groen","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0465","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1002\/acn3.779","article-title":"Neurofilament as a potential biomarker for spinal muscular atrophy","volume":"6","author":"Darras","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.tins.2020.11.009_bb0470","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.tins.2020.11.009_bb0475","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/nrneurol.2018.4","article-title":"Advances in therapy for spinal muscular atrophy: promises and challenges","volume":"14","author":"Groen","year":"2018","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.tins.2020.11.009_bb0480","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.tins.2020.11.009_bb0485","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/s41556-020-00577-7","article-title":"SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy","volume":"22","author":"Lauria","year":"2020","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.tins.2020.11.009_bb0490","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.cell.2018.11.030","article-title":"Late endosomes act as mRNA translation platforms and sustain mitochondria in axons","volume":"176","author":"Cioni","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.tins.2020.11.009_bb0495","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.tins.2020.11.009_bb0500","doi-asserted-by":"crossref","first-page":"45","DOI":"10.3389\/fneur.2020.00045","article-title":"The need for SMN-independent treatments of spinal muscular atrophy (SMA) to complement SMN-enhancing drugs","volume":"11","author":"Hensel","year":"2020","journal-title":"Front. Neurol."},{"key":"10.1016\/j.tins.2020.11.009_bb0505","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.pediatrneurol.2020.01.003","article-title":"Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease","volume":"109","author":"Yeo","year":"2020","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.tins.2020.11.009_bb0510","doi-asserted-by":"crossref","first-page":"315","DOI":"10.3233\/JND-200493","article-title":"Blood flow to the spleen is altered in a mouse model of spinal muscular atrophy","volume":"7","author":"Deguise","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.tins.2020.11.009_bb0515","doi-asserted-by":"crossref","first-page":"2365","DOI":"10.1093\/hmg\/ddaa126","article-title":"Renal pathology in a mouse model of severe spinal muscular atrophy is associated with downregulation of glial cell-line derived neurotrophic factor (GDNF)","volume":"29","author":"Allardyce","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0520","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1172\/JCI131989","article-title":"Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models","volume":"130","author":"Kim","year":"2020","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.tins.2020.11.009_bb0525","doi-asserted-by":"crossref","first-page":"2674","DOI":"10.1093\/hmg\/ddaa146","article-title":"Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy","volume":"29","author":"Motyl","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0530","doi-asserted-by":"crossref","first-page":"49","DOI":"10.2217\/fnl.13.58","article-title":"Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond","volume":"9","author":"Monani","year":"2014","journal-title":"Future Neurol."},{"key":"10.1016\/j.tins.2020.11.009_bb0535","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.tins.2020.11.009_bb0540","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.tins.2020.11.009_bb0545","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.tins.2020.11.009_bb0550","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1007\/s00439-012-1171-5","article-title":"Mouse models of SMA: tools for disease characterization and therapeutic development","volume":"131","author":"Bebee","year":"2012","journal-title":"Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0555","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.tins.2020.11.009_bb0560","doi-asserted-by":"crossref","DOI":"10.1002\/prp2.447","article-title":"Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs","volume":"6","author":"Poirier","year":"2018","journal-title":"Pharmacol. Res. Perspect."},{"key":"10.1016\/j.tins.2020.11.009_bb0565","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.tins.2020.11.009_bb0570","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"De Vivo","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.tins.2020.11.009_bb0575","doi-asserted-by":"crossref","first-page":"59","DOI":"10.3389\/fnmol.2019.00059","article-title":"Molecular mechanisms underlying sensory\u2013motor circuit dysfunction in SMA","volume":"12","author":"Shorrock","year":"2019","journal-title":"Front. Mol. Neurosci."},{"key":"10.1016\/j.tins.2020.11.009_bb0580","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/s11910-017-0802-6","article-title":"Microbiota\u2013brain\u2013gut axis and neurodegenerative diseases","volume":"17","author":"Quigley","year":"2017","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"10.1016\/j.tins.2020.11.009_bb0585","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1172\/JCI72017","article-title":"Requirement of enhanced survival motoneuron protein imposed during neuromuscular junction maturation","volume":"124","author":"Kariya","year":"2014","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.tins.2020.11.009_bb0590","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.tins.2020.11.009_bb0595","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.tins.2020.11.009_bb0600","doi-asserted-by":"crossref","first-page":"503","DOI":"10.3233\/JND-190428","article-title":"One year of newborn screening for SMA \u2013 results of a German pilot project","volume":"6","author":"Vill","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.tins.2020.11.009_bb0605","series-title":"24th Annual Spinal Muscular Atrophy Researcher Meeting","first-page":"15","article-title":"Gain of toxic function by long-term SMN overexpression in the mouse motor circuit","author":"Van Alstyne","year":"2020"},{"key":"10.1016\/j.tins.2020.11.009_bb0610","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.ajhg.2019.05.008","article-title":"NCALD antisense oligonucleotide therapy in addition to nusinersen further ameliorates spinal muscular atrophy in mice","volume":"105","author":"Torres-Benito","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0615","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus sham control in later-onset spinal muscular atrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.tins.2020.11.009_bb0620","doi-asserted-by":"crossref","first-page":"6501","DOI":"10.1021\/acs.jmedchem.8b00741","article-title":"Discovery of risdiplam, a selective survival of motor neuron-2 (SMN2) gene splicing modifier for the treatment of spinal muscular atrophy (SMA)","volume":"61","author":"Ratni","year":"2018","journal-title":"J. Med. Chem."},{"key":"10.1016\/j.tins.2020.11.009_bb0625","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.tins.2020.11.009_bb0630","doi-asserted-by":"crossref","first-page":"2222","DOI":"10.3390\/jcm9072222","article-title":"New treatments in spinal muscular atrophy: positive results and new challenges","volume":"9","author":"Messina","year":"2020","journal-title":"J. Clin. Med."},{"key":"10.1016\/j.tins.2020.11.009_bb0635","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/acn3.283","article-title":"Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study","volume":"3","author":"Kolb","year":"2016","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.tins.2020.11.009_bb0640","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1136\/jmedgenet-2018-105482","article-title":"Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a Phase IIb double-blind study of salbutamol","volume":"56","author":"Tiziano","year":"2019","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0645","doi-asserted-by":"crossref","first-page":"e921","DOI":"10.1212\/WNL.0000000000008762","article-title":"Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy","volume":"94","author":"Alves","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.tins.2020.11.009_bb0650","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3390\/biomedicines8020021","article-title":"Circulating myomiRs as potential biomarkers to monitor response to nusinersen in pediatric SMA patients","volume":"8","author":"Bonanno","year":"2020","journal-title":"Biomedicines"},{"key":"10.1016\/j.tins.2020.11.009_bb0655","doi-asserted-by":"crossref","first-page":"2884","DOI":"10.1093\/nar\/gkz034","article-title":"Human survival motor neuron genes generate a vast repertoire of circular RNAs","volume":"47","author":"Ottesen","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.tins.2020.11.009_bb0660","doi-asserted-by":"crossref","first-page":"5019","DOI":"10.1007\/s12035-017-0710-4","article-title":"Regulation of survival motor neuron protein by the nuclear factor-kappa B pathway in mouse spinal cord motoneurons","volume":"55","author":"Arumugam","year":"2018","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.tins.2020.11.009_bb0665","article-title":"A single amino acid residue regulates PTEN-binding and stability of the spinal muscular atrophy protein SMN","volume":"3","author":"Rademacher","year":"2020","journal-title":"Cells"},{"key":"10.1016\/j.tins.2020.11.009_bb0670","doi-asserted-by":"crossref","first-page":"3087","DOI":"10.1016\/j.celrep.2019.11.013","article-title":"The classical complement pathway mediates microglia-dependent remodeling of spinal motor circuits during development and in SMA","volume":"29","author":"Vukojicic","year":"2019","journal-title":"Cell Rep."},{"key":"10.1016\/j.tins.2020.11.009_bb0675","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1111\/jcmm.13450","article-title":"miRNA in spinal muscular atrophy pathogenesis and therapy","volume":"22","author":"Magri","year":"2018","journal-title":"J. Cell. Mol. Med."},{"key":"10.1016\/j.tins.2020.11.009_bb0680","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1177\/1073858417705059","article-title":"The actin cytoskeleton in SMA and ALS: how does it contribute to motoneuron degeneration?","volume":"24","author":"Hensel","year":"2018","journal-title":"Neuroscientist"},{"key":"10.1016\/j.tins.2020.11.009_bb0685","doi-asserted-by":"crossref","first-page":"3946","DOI":"10.1093\/hmg\/ddx282","article-title":"Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA)","volume":"26","author":"Rademacher","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0690","first-page":"4703","article-title":"Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in spinal muscular atrophy","volume":"25","author":"Tejero","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2020.11.009_bb0695","article-title":"Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in spinal muscular atrophy models","volume":"6","author":"O\u2019Hern","year":"2017","journal-title":"Elife"},{"key":"10.1016\/j.tins.2020.11.009_bb2005","article-title":"Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons","author":"Thelen","year":"2021","journal-title":"Acta Neuropathol. Commun."}],"container-title":["Trends in Neurosciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0166223620302745?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0166223620302745?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T12:18:34Z","timestamp":1759061914000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0166223620302745"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":140,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["S0166223620302745"],"URL":"https:\/\/doi.org\/10.1016\/j.tins.2020.11.009","relation":{},"ISSN":["0166-2236"],"issn-type":[{"value":"0166-2236","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Spinal Muscular Atrophy: In the Challenge Lies a Solution","name":"articletitle","label":"Article Title"},{"value":"Trends in Neurosciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.tins.2020.11.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}