Werdnig G: Zwei frühinfantile hereditäre Fälle von progressive Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage [Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis; in German]. Arch Psychiatr Nervenkr. 1891, 22: 437-480. 10.1007/BF01776636.
Article
Google Scholar
Hoffmann J: U" ber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis [On chronic spinal muscular atrophy in childhood, with a familial basis; in German]. Dtsch Z Nervenheilkd. 1893, 3: 427-470. 10.1007/BF01668496.
Article
Google Scholar
Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D, Dubowitz V, Zerres K, Hausmanowa-Petrusewicz I, Ott J, Munsat TL, Gilliam TC: Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990, 344: 540-41. 10.1038/344540a0.
Article
CAS
PubMed
Google Scholar
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A, Melki J: Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995, 80: 155-65. 10.1016/0092-8674(95)90460-3.
Article
CAS
PubMed
Google Scholar
Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB: Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002, 110: 301-07. 10.1002/ajmg.10425.
Article
PubMed
Google Scholar
Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, Conlan T, Schmalz B, Montgomery L, Ziegler K, Noonan C, Hashimoto S, Garner S: Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A. 2010, 152A: 1605-1607. 10.1002/ajmg.a.33519.
Article
Google Scholar
Munstat TL, Davies KE: International SMA consortium meeting. Neuromuscul Disord. 1992, 2: 423-428. 10.1016/S0960-8966(06)80015-5.
Article
Google Scholar
MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA: Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol. 1999, 3: 65-72.
Article
CAS
PubMed
Google Scholar
Dubowitz V: Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol. 1999, 3: 49-51.
Article
CAS
PubMed
Google Scholar
Felderhoff-Mueser U, Grohmann K, Harder A, Stadelmann C, Zerres K, Bührer C, Obladen M: Severe spinal muscular atrophy variant associated with congenital bone fractures. J Child Neurol. 2002, 17: 718-721. 10.1177/088307380201700915.
Article
PubMed
Google Scholar
Kelly TE, Amoroso K, Ferre M, Blanco J, Allinson P, Prior TW: Spinal muscular atrophy variant with congenital fractures. Am J Med Genet. 1999, 87: 65-68. 10.1002/(SICI)1096-8628(19991105)87:1<65::AID-AJMG13>3.0.CO;2-5.
Article
CAS
PubMed
Google Scholar
Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K: 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscular Disorders. 2005, 15: 802-816. 10.1016/j.nmd.2005.07.005.
Article
CAS
PubMed
Google Scholar
Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K: Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet. 2008, 45: 635-8. 10.1136/jmg.2008.057950.
Article
PubMed
Google Scholar
Shababi M, Habibi J, Yang HT, Vale SM, Sewell WA, Lorson CL: Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet. 2010, 19: 4059-4071. 10.1093/hmg/ddq329.
Article
CAS
PubMed
Google Scholar
Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Bertini E, Mercuri E: Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord. 2008, 18: 389-93. 10.1016/j.nmd.2008.02.008.
Article
PubMed
Google Scholar
Kinali M, Banks LM, Mercuri E, Manzur AY, Muntoni F: Bone mineral density in a paediatric spinal muscular atrophy population. Neuropediatrics. 2004, 35: 325-8. 10.1055/s-2004-830366.
Article
CAS
PubMed
Google Scholar
Khatri IA, Chaudhry US, Seikaly MG, Browne RH, Iannaccone ST: Low bone mineral density in spinal muscular atrophy. J Clin Neuromuscul Dis. 2008, 10: 11-7. 10.1097/CND.0b013e318183e0fa.
Article
PubMed
Google Scholar
Shanmugarajan S, Tsuruga E, Swoboda KJ, Maria BL, Ries WL, Reddy SV: Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol. 2009, 219: 52-60. 10.1002/path.2566.
Article
PubMed Central
CAS
PubMed
Google Scholar
Zerres K, Rudnik-Schöneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I: A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997, 146: 67-72. 10.1016/S0022-510X(96)00284-5.
Article
CAS
PubMed
Google Scholar
Vitte J, Fassier C, Tiziano FD, Dalard C, Soave S, Roblot N, Brahe C, Saugier-Veber P, Bonnefont JP, Melki J: Refined characterization of the expression and stability of the SMN gene products. Am J Pathol. 2007, 171: 1269-80. 10.2353/ajpath.2007.070399.
Article
PubMed Central
CAS
PubMed
Google Scholar
Wirth B: An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mut. 2000, 15: 228-237. 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9.
Article
CAS
PubMed
Google Scholar
Gavrilov DK, Shi X, Das K, Gilliam TC, Wang CH: Differential SMN2 expression associated with SMA severity. Nat Genet. 1998, 20: 230-31. 10.1038/3030.
Article
CAS
PubMed
Google Scholar
Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B: 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. Am J Hum Genet. 2002, 70: 358-68. 10.1086/338627.
Article
PubMed Central
PubMed
Google Scholar
Rudnik-Schöneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R: Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling. Clin Genet. 2009, 76: 168-178. 10.1111/j.1399-0004.2009.01200.x.
Article
PubMed
Google Scholar
Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH: The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 1997, 6: 1205-1214. 10.1093/hmg/6.8.1205.
Article
CAS
PubMed
Google Scholar
Liu Q, Dreyfuss G: A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 1996, 15: 3555-3565.
PubMed Central
CAS
PubMed
Google Scholar
Schmid A, DiDonato CJ: Animal models of spinal muscular atrophy. J Child Neurol. 2007, 22: 1004-1012. 10.1177/0883073807305667. Review.
Article
PubMed
Google Scholar
Monani UR, Pastore MT, Gavrilina TO, Jablonka S, Le TT, Andreassi C, DiCocco JM, Lorson C, Androphy EJ, Sendtner M, Podell M, Burghes AH: A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol. 2003, 160: 41-52. 10.1083/jcb.200208079.
Article
PubMed Central
CAS
PubMed
Google Scholar
Le TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH: 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. Hum Mol Genet. 2005, 14: 845-857. 10.1093/hmg/ddi078.
Article
CAS
PubMed
Google Scholar
Carvalho T, Almeida F, Calapez A, Lafarga M, Berciano MT, Carmo-Fonseca M: The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body. J Cell Biol. 1999, 147: 715-2836,39. 10.1083/jcb.147.4.715.
Article
PubMed Central
CAS
PubMed
Google Scholar
Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L: Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One. 2007, 2: e921. 10.1371/journal.pone.0000921.
Article
PubMed Central
PubMed
Google Scholar
Fan L, Simard LR: Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development. Hum Mol Genet. 2002, 11: 1605-14. 10.1093/hmg/11.14.1605.
Article
CAS
PubMed
Google Scholar
Zhang H, Xing L, Rossoll W, Wichterle H, Singer RH, Bassell GJ: Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci. 2006, 26: 8622-8632. 10.1523/JNEUROSCI.3967-05.2006.
Article
CAS
PubMed
Google Scholar
Lunn MR, Wang CH: Spinal muscular atrophy. Lancet. 2008, 371: 2120-2133. 10.1016/S0140-6736(08)60921-6. Review.
Article
PubMed
Google Scholar
Rossoll W, Jablonka S, Andreassi C, Kröning AK, Karle K, Monani UR, Sendtner M: Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motorneurons. J Cell Biol. 2003, 163: 801-812. 10.1083/jcb.200304128.
Article
PubMed Central
CAS
PubMed
Google Scholar
Zhang HL, Pan F, Hong D, Shenoy SM, Singer RH, Bassell GJ: Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci. 2003, 23: 6627-6637.
CAS
PubMed
Google Scholar
McWhorter ML, Monani UR, Burghes AH, Beattie CE: Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol. 2003, 162: 919-931. 10.1083/jcb.200303168.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lambrechts A, Braun A, Jonckheere V, Aszodi A, Lanier LM, Robbens J, Van Colen I, Vandekerckhove J, Fässler R, Ampe C: Profilin II is alternatively spliced, resulting in profilin isoforms that are differentially expressed and have distinct biochemical properties. Mol Cell Biol. 2000, 20: 8209-8219. 10.1128/MCB.20.21.8209-8219.2000.
Article
PubMed Central
CAS
PubMed
Google Scholar
Setola V, Terao M, Locatelli D, Bassanini S, Garattini E, Battaglia G: Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proc Natl Acad Sci USA. 2007, 104: 1959-1964. 10.1073/pnas.0610660104.
Article
PubMed Central
CAS
PubMed
Google Scholar
Simic G: Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta Neuropathol. 2008, 116: 223-234. 10.1007/s00401-008-0411-1.
Article
CAS
PubMed
Google Scholar
Sharma A, Lambrechts A, Hao le T, Le TT, Sewry CA, Ampe C, Burghes AH, Morris GE: A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells. Exp Cell Res. 2005, 309: 185-97. 10.1016/j.yexcr.2005.05.014.
Article
CAS
PubMed
Google Scholar
Mentis GZ, Blivis D, Liu W, Drobac E, Crowder ME, Kong L, Alvarez FJ, Sumner CJ, O'Donovan MJ: Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron. 2011, 69: 453-467. 10.1016/j.neuron.2010.12.032.
Article
PubMed Central
CAS
PubMed
Google Scholar
Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A: Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007, 22: 1027-1049. 10.1177/0883073807305788.
Article
PubMed
Google Scholar
Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M: Multiplex ligation-dependent probe amplification improbe diagnostics in spinal muscular atrophy. Neuromuscul Disord. 2006, 16: 830-838. 10.1016/j.nmd.2006.08.011.
Article
PubMed
Google Scholar
Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF: A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Hum Mutat. 2003, 22: 136-43. 10.1002/humu.10245.
Article
PubMed
Google Scholar
Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, Moscato U, Bertini E, Mercuri E, Neri G: Phenylbutyrate increases SMN gene expression in spinal muscular atrophy Patients. Eur J Hum Genet. 2005, 13: 356-259.
Article
Google Scholar
Weihl CC, Connolly AM, Pestronk A: Valproate may improve strength and function in patients with type III/IV spinal muscular atrophy. Neurology. 2006, 67: 500-501. 10.1212/01.wnl.0000231139.26253.d0.
Article
CAS
PubMed
Google Scholar
Brichita L, Holker I, Huang K, Klockgether T, Wirth B: In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol. 2006, 59: 970-9. 10.1002/ana.20836.
Article
Google Scholar
Tsai LK, Yang CC, Hwu WL, Li H: Valproic acid treatment in six patients with spinal muscular atrophy. Eur J N Neurol. 2007, 14: e8-e9.
Article
Google Scholar
Swoboda KJ, Scott CB, Reyna SP, Prior TW, LaSalle B, Sorenson SL, Wood J, Acsadi G, Crawford TO, Kissel JT, Krosschell KJ, D'Anjou G, Bromberg MB, Schroth MK, Chan GM, Elsheikh B, Simard LR: Phase II open label study of valproic acid in spinal muscular atrophy. 2009, PLoS ONE 4: e5268.
Google Scholar
Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, Bromberg MB: Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function. Ann Neurol. 2005, 57: 704-712. 10.1002/ana.20473.
Article
PubMed Central
CAS
PubMed
Google Scholar
Mellies U, Dohna-Schwake C, Stehling F, Voit T: Sleep disordered breathing in spinal muscular atrophy. Neuromuscul Disord. 2004, 14: 797-803. 10.1016/j.nmd.2004.09.004.
Article
PubMed
Google Scholar
Mellies U, Ragette R, Dohna Schwake C, Boehm H, Voit T, Teschler H: Long-term noninvasive ventilation in children and adolescents with neuromuscular disorders. Eur Respir J. 2003, 22: 631-636. 10.1183/09031936.03.00044303a.
Article
CAS
PubMed
Google Scholar
Ragette R, Mellies U, Schwake C, Voit T, Teschler H: Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax. 2002, 57: 724-728. 10.1136/thorax.57.8.724.
Article
PubMed Central
CAS
PubMed
Google Scholar
Akbarnia BA, Marks DS, Boachie-Adjei O, Thompson AG, Asher MA: Dual growing rod technique for the treatment of progressive early-onset scoliosis: a multicenter study. Spine. 2005, 30 (17 Suppl): S46-57.
Article
PubMed
Google Scholar
Hell AK, Campbell RM, Hefti F: The vertical expandable prosthetic titanium rib implant for the treatment of thoracic insufficiency syndrome associated with congenital and neuromuscular scoliosis in young children. J Pediatr Orthop B. 2005, 14: 287-293. 10.1097/01202412-200507000-00011.
Article
PubMed
Google Scholar
Lorson CL, Rindt H, Shababi M: Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet. 2010, 19: R111-118. 10.1093/hmg/ddq147.
Article
PubMed Central
CAS
PubMed
Google Scholar
Tiziano FD, Lomastro R, Pinto AM, Messina S, D'Amico A, Fiori S, Angelozzi C, Pane M, Mercuri E, Bertini E, Neri G, Brahe C: Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. J Med Genet. 2010, 47: 856-858. 10.1136/jmg.2010.080366.
Article
CAS
PubMed
Google Scholar
Lim SR, Hertel KJ: Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing. J Biol Chem. 2001, 276: 45476-45483. 10.1074/jbc.M107632200.
Article
CAS
PubMed
Google Scholar
Madocsai C, Lim SR, Geib T, Lam BJ, Hertel KJ: Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs. Mol Ther. 2005, 12: 1013-1022. 10.1016/j.ymthe.2005.08.022.
Article
CAS
PubMed
Google Scholar
Geib T, Hertel KJ: Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs. PLoS One. 2009, 4: e8204. 10.1371/journal.pone.0008204.
Article
PubMed Central
PubMed
Google Scholar
Jarecki J, Chen X, Bernardino A, Coovert DD, Whitney M, Burghes A, Stack J, Pollok BA: Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Hum Mol Genet. 2005, 14: 2003-18. 10.1093/hmg/ddi205.
Article
CAS
PubMed
Google Scholar
Butchbach ME, Singh J, Thorsteinsdóttir M, Saieva L, Slominski E, Thurmond J, Andrésson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME: Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet. 2010, 19: 454-467. 10.1093/hmg/ddp510.
Article
PubMed Central
CAS
PubMed
Google Scholar
Mattis VB, Rai R, Wang J, Chang CW, Coady T, Lorson CL: Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts. Hum Genet. 2006, 120: 589-601. 10.1007/s00439-006-0245-7.
Article
CAS
PubMed
Google Scholar
Kerem E, Hirawat S, Armoni S, Yaakov Y, Shoseyov D, Cohen M, Nissim-Rafinia M, Blau H, Rivlin J, Elfring GL, Northcutt VJ, Miller LL, Kerem B, Wilschanski M: Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet. 2008, 372: 719-727. 10.1016/S0140-6736(08)61168-X.
Article
CAS
PubMed
Google Scholar
Chuang DM, Leng Y, H J, Chiu CT: Multiple roles of HDAC inhibition in neurodegenerative conditions. Trends Neurosci. 2009, 32: 591-601. 10.1016/j.tins.2009.06.002.
Article
PubMed Central
CAS
PubMed
Google Scholar
Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, Sumner CJ: Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest. 2007, 117: 659-671. 10.1172/JCI29562.
Article
PubMed Central
CAS
PubMed
Google Scholar
Narver HL, Kong L, Burnet BG, Choe DW, Bosch-Marce M, Taye AA, Eckhaus MA, Sumner CJ: Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition. Ann Neurol. 2008, 64: 465-470. 10.1002/ana.21449.
Article
PubMed
Google Scholar
Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H: Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci USA. 2001, 98: 9808-9813. 10.1073/pnas.171105098.
Article
PubMed Central
CAS
PubMed
Google Scholar
Mercuri E, Bertini E, Messina S, Solari A, D'Amico A, Angelozzi C, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Colitto F, Kinali M, Minetti C, Mongini T, Morandi L, Neri G, Orcesi S, Pane M, Pelliccioni M, Pini A, Tiziano FD, Villanova M, Vita G, Brahe C: Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology. 2007, 68: 51-55. 10.1212/01.wnl.0000249142.82285.d6.
Article
CAS
PubMed
Google Scholar
Garbes L, Riessland M, Holker I, Heller R, Hauke J, Trankle C, Coras R, Blumcke I, Hahnen E, Wirth B: LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Hum Mol Genet. 2009, 18: 3645-3658. 10.1093/hmg/ddp313.
Article
CAS
PubMed
Google Scholar
Riessland M, Ackermann B, Forster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blumcke I, Hahnen E, Wirth B: SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet. 2010, 19: 1492-1506. 10.1093/hmg/ddq023.
Article
CAS
PubMed
Google Scholar
Passini MA, Cheng SH: Prospects for the gene therapy of spinal muscular atrophy. Trends Mo Med 2011. 2011, 17: 259-65.
CAS
Google Scholar
Passini MA, Bu J, Roskelley EM, Richards AM, Sardi SP, O'Riordan CR, Klinger KW, Shihabuddin LS, Cheng SH: CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest. 2010, 120: 1253-1264. 10.1172/JCI41615.
Article
PubMed Central
CAS
PubMed
Google Scholar
Dominguez E, Marais T, Chatauret N, Benkhelifa-Ziyyat S, Duque S, Ravassard P, Carcenac R, Astord S, de Moura AP, Voit T, Barkats M: Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet. 2011, 20: 681-693. 10.1093/hmg/ddq514.
Article
CAS
PubMed
Google Scholar
Foust KD, Wang X, McGovern VL, Braun L, Bevan AK, Haidet AM, Le TT, Morales PR, Rich MM, Burghes AH, Kaspar BK: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol. 2010, 28: 271-274. 10.1038/nbt.1610.
Article
PubMed Central
CAS
PubMed
Google Scholar
Passini MA, Bu J, Richards AM, Kinnecom C, Sardi SP, Stanek LM, Hua Y, Rigo F, Matson J, Hung G, Kaye EM, Shihabuddin LS, Krainer AR, Bennett CF, Cheng SH: Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med. 2011, 3: 72ra18. 10.1126/scitranslmed.3001777.
Article
PubMed Central
PubMed
Google Scholar
Harper JM, Krishnan C, Darman JS, Deshpande DM, Peck S, Shats I, Backovic S, Rothstein JD, Kerr DA: Axonal growth of embryonic stem cell-derived motoneurons in vitro and in motoneuron- injured adult rats. Proc Natl Acad Sci USA. 2004, 101: 7123-7128. 10.1073/pnas.0401103101.
Article
PubMed Central
CAS
PubMed
Google Scholar
Deshpande DM, Kim YS, Martinez T, Carmen J, Dike S, Shats I, Rubin LL, Drummond J, Krishnan C, Hoke A, Maragakis N, Shefner J, Rothstein JD, Kerr DA: Recovery from paralysis in adult rats using embryonic stem cells. Ann Neurol. 2006, 60: 32-44. 10.1002/ana.20901.
Article
CAS
PubMed
Google Scholar
Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Simone C, Falcone M, Papadimitriou D, Locatelli F, Mezzina N, Gianni F, Bresolin N, Comi GP: Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain. 2010, 133: 465-481. 10.1093/brain/awp318.
Article
PubMed
Google Scholar
Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Del Bo R, Papadimitriou D, Locatelli F, Mezzina N, Gianni F, Bresolin N, Comi GP: Motorneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1). J Neurosci. 2009, 29: 11761-11771. 10.1523/JNEUROSCI.2734-09.2009.
Article
CAS
PubMed
Google Scholar
Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, Chung W, Croft GF, Saphier G, Leibel R, Goland R, Wichterle H, Henderson CE, Eggan K: Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science. 2008, 321: 1218-1221. 10.1126/science.1158799.
Article
CAS
PubMed
Google Scholar