Published SMA Research

Cure SMA and its partners publish papers concerning important research on spinal muscular atrophy (SMA). Below is the latest SMA Industry Collaboration and Cure SMA published research relevant to the treatment and care of SMA.

Cure SMA Publications

Be sure you check out additional published research and resources below.

2024

Curry MA, Cruz RE, Belter LT, Schroth MK, Jarecki J. Neurol Ther. 2024 Mar 2. Epub ahead of print.

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2023

Staunton H, Cleanthous S, Teodoro V, Barrett L, Braid J, Ewens B, Cano S, Baranello G, Kirschner J, Belter L, Mayhew A. J Neuromuscul Dis. 2023;10(6):1093-1109.

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Riley AG, Mulé CM, Lerner D, Belter L, et al. Cost Eff Resour Alloc. 2023 Aug 23;21(1):55.

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Glascock J, Darras BT, Crawford TO, et al. J Neuromuscul Dis. 2023 Jul 12.

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2021

Belter L, Jarecki J, Reyna SP, et al. Journal Neuromuscular Dis. 2021;8(1):109-123.

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2020

Glascock J, Sampson J, Connolly AM, et al. J Neuromuscul Dis. 2020;7(2):97-100.

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2018

Belter L, Cook SF, Crawford TO, Jarecki J, Jones CC, Kissel JT, Schroth M, Hobby K. J Neuromuscul Dis. 2018;5(2):167-176.

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Glascock J, Sampson J, Haidet-Phillips A, et al. J Neuromuscul Dis. 2018;5(2):145-158.

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2017

Glascock J, Lenz M, Hobby K, Jarecki J. Gene Ther. 2017 Sep;24(9):498-500.

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Cure SMA Funded Research Publications

Be sure you check out below additional published research and resources from the SMA Industry Collaboration

2023

Stimpson G, Ramsey D, Wolfe A, et al. J Clin Med. 2023 Feb 28;12(5):1920.

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Tejero R, Alsakkal M, Hennlein L, Lopez-Cabello AM, Jablonka S, Tabares L. Int J Mol Sci. 2023.

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Welby E, Ebert AD. Glia. 2023 May;71(5):1311-1332.

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Kim JK, Jha NN, Awano T, et al. Neuron. 2023 May 3;111(9):1423-1439.e4.

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Ojala KS, Kaufhold CJ, Davey MR, et al. Hum Mol Genet. 2023 May 18;32(11):1901-1911.

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Jha NN, Kim JK, Her YR, Monani UR. JCI Insight. 2023 Sep 22;8(18):e171878.

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Beaudin M, Kamali T, Tang W, et al. J Clin Med. 2023 Oct 23;12(20):6696.

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Kelly KM, Mizell J, Bigdeli L, et al. Ann Clin Transl Neurol. 2023 Dec;10(12):2208-2222.

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2022

Allison RL, Welby E, Khayrullina G, Burnett BG, Ebert AD. Glia. 2022;70(5):989-1004. https://onlinelibrary.wiley.com/doi/10.1002/glia.24153.

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Mazzella A, O'Brien S, Jarecki J. PLoS One. 2022;17(11):e0276756. https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0276756.

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Comley LH, Kline RA, Thomson AK, et al. Hum Mol Genet. 2022;31(18):3107-3119. https://academic.oup.com/hmg/article/31/18/3107/6584726.

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Duong T, Staunton H, Braid J, et al. Front. Neurol. 2021;12:770423. https://www.frontiersin.org/articles/10.3389/fneur.2021.770423/full.

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Hanna RB, Nahm N, Bent MA, et al. JB & JS Open Access. 2022;7(3). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9478277/.

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Khayrullina G, Alipio-Gloria ZA, Deguise MO, et al. Glia. 2022;70(7):1337-1358. https://onlinelibrary.wiley.com/doi/10.1002/glia.24177.

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Krosschell KJ, Dunaway Young S, Peterson I, et al. Phys Ther. 2022;102(10). https://academic.oup.com/ptj/article/102/10/pzac108/6651754.

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Krosschell KJ, Townsend EL, Kiefer M, et al. Neuromuscul Disord. 2022;32(2):125-134. https://www.nmd-journal.com/article/S0960-8966(21)00616-7/fulltext.

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Marasco LE, Dujardin G, Sousa-Luís R, et al. Cell. 2022;185(12):2057-2070.e2015. https://www.cell.com/cell/fulltext/S0092-8674(22)00529-3.

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Mazzella A, Cruz R, Belter L, et al. Muscle Nerve. 2022;66(3):276-281. https://onlinelibrary.wiley.com/doi/10.1002/mus.27644.

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2021

Welby E, Rehborg RJ, Harmelink M, Ebert AD. Hum Mol Genet. 2021 Dec 17:ddab365. doi: 10.1093/hmg/ddab365. Online ahead of print. PMID: 34919695.

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Rich KA,Wier CG, Russo J, Kong L, Heilman PL, Reynolds A, Knapp A, Pino MG, Keckley E, Mattox L, Malbrue RA, Sumner CJ, Buhimschi C, Kolb SJ. Gene Ther. 2021 Nov 22. doi: 10.1038/s41434-021-00305-2. Online
ahead of print. PMID: 34803165.

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Ravel-Chapuis A, Haghandish A, Daneshvar N, Jasmin BJ, Côté J. Hum Mol Genet. 2021 Nov 15:ddab333. doi: 10.1093/hmg/ddab333. Online ahead of print. PMID: 34791230.

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Gollapalli K, Kim JK, Monani UR.Neural Regen Res. 2021 Oct;16(10):1978-1984. doi: 10.4103/1673-
5374.308073.PMID: 33642371 Review.

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Riboldi GM, Faravelli I, Kuwajima T, Delestrée N, Dermentzaki G, De Planell-Saguer M, Rinchetti P, Hao LT, Beattie CC, Corti S, Przedborski S, Mentis GZ, Lotti F. Nat Commun. 2021 Aug 19;12(1):5040. doi: 10.1038/s41467-021-25272-
5. PMID: 34413305.

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Arnold WD, Severyn S, Zhao S, Kline D, Linsenmayer M, Kelly K, Tellez M, Bartlett A, Heintzman S, Reynolds J, Sterling G, Weaver T, Rajneesh K, Burghes AHM, Kolb SJ, Elsheikh B. BMJ Neurol Open. 2021 Aug 12;3(2):e000164. doi: 10.1136/bmjno-2021-000.

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Eichelberger EJ, Alves CRR, Zhang R, Petrillo M, Cullen P, Farwell W, Hurt JA, Staropoli JF, Swoboda KJ. Ann Clin Transl Neurol. 2021 Jul;8(7):1495-1501. doi: 10.1002/acn3.51377. Epub 2021 May 15. PMID: 33991176; PMCID: PMC8283166.

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Schilling M, Prusty AB, Boysen B, Oppermann FS, Riedel YL, Husedzinovic A, Rasouli H, König A, Ramanathan P, Reymann J, Erfle H, Daub H, Fischer U, Gruss OJ. Cell Rep. 2021 Jun 22;35(12):109277. doi:
10.1016/j.celrep.2021.109277.

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McCormack NM, Villalón E, Viollet C, Soltis AR, Dalgard CL, Lorson CL, Burnett BG. J Cachexia Sarcopenia Muscle. 2021 Jun 11. doi: 10.1002/jcsm.12740. Online ahead of print.
PMID: 34115448.

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Deguise MO, Chehade L, Kothary R. Int J Mol Sci. 2021 May 31;22(11):5913. doi: 10.3390/ijms22115913. PMID: 34072857; PMCID: PMC8198411.

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Elsheikh B, Severyn S, Zhao S, Kline D, Linsenmayer M, Kelly K, Tellez M, Bartlett A, Heintzman S, Reynolds J, Sterling G, Weaver T, Rajneesh K, Kolb SJ, Arnold WD. Front Neurol. 2021 May 20;12:650535. doi: 10.3389/fneur.2021.650535.
PMID: 34093395; PMCID: PMC8174580.

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Timmerberg JF, Krosschell KJ, Dunaway Young S, Uher D, Yun C, Montes J. PLoS One. 2021 Apr 22;16(4):e0249279. doi:
10.1371/journal.pone.0249279. PMID: 33886555; PMCID: PMC8062020.

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Elsheikh B, Severyn S, Zhao S, Kline D, Linsenmayer M, Kelly K, Tellez M, Bartlett A, Heintzman S, Reynolds J, Sterling G, Weaver T, Rajneesh K, Kolb SJ, Arnold WD. Front Neurol. 2021 Apr 16;12:650532. doi: 10.3389/fneur.2021.650532

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McGrattan KE, Graham RJ, DiDonato CJ, Darras BT. Am J Speech Lang Pathol. 2021 Apr 6:1-15. doi: 10.1044/2021_AJSLP-20-00217.

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Montes J, Goodwin AM, McDermott MP, Uher D, Hernandez FM, Coutts K, Cocchi J, Hauschildt M, Cornett KM, Rao AK, Monani UR, Ewing Garber C, De Vivo DC. Ann Clin Transl Neurol. 2021 Mar 31. doi: 10.1002/acn3.51353.
Online ahead of print.

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Veepaschit J, Viswanathan A, Bordonné R, Grimm C, Fischer U. Nucleic Acids Res. 2021 Mar 23:gkab158. doi: 10.1093/nar/gkab158.

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Kucera KS, Taylor JL, Robles VR, Clinard K, Migliore B, Boyea BL, Okoniewski KC, Duparc M, Rehder CW, Shone SM, Fan Z, Raspa M, Peay HL, Wheeler AC, Powell CM, Bailey DB Jr, Gehtland LM. Int J Neonatal Screen. 2021 Mar 21;7(1):20. doi: 10.3390/ijns7010020. PMID: 33801060; PMCID: PMC8006221.

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Mazzella A, Curry M, Belter L, Cruz R, Jarecki J.

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Ojala KS, Reedich EJ, DiDonato CJ, Meriney SD. Brain Sci. 2021 Feb 5;11(2):194. doi: 10.3390/brainsci11020194.

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Deguise MO, Pileggi C, De Repentigny Y, Beauvais A, Tierney A, Chehade L, Michaud J, Llavero-Hurtado M, Lamont D, Atrih A, Wishart TM, Gillingwater TH, Schneider BL, Harper ME, Parson SH, Kothary R.Cell Mol Gastroenterol Hepatol. 2021 Feb 2:S2352- 345X(21)00025-4. doi:
10.1016/j.jcmgh.2021.01.019. Online ahead of print. PMID: 33545428.

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Kong L, Valdivia DO, Simon CM, Hassinan CW, Delestrée N, Ramos DM, Park JH, Pilato CM, Xu X, Crowder M, Grzyb CC, King ZA, Petrillo M, Swoboda KJ, Davis C, Lutz CM, Stephan AH, Zhao X, Weetall M, Naryshkin NA, Crawford TO, Mentis GZ, Sumner CJ. Sci Transl Med. 2021 Jan 27;13(578):eabb6871. doi:
10.1126/scitranslmed.abb6871.PMID: 33504650.

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Ravi B, Chan-Cortés MH, Sumner CJ. Annu Rev Med. 2021 Jan 27;72:1-14. doi: 10.1146/annurev-med-070119-115459.

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Paquin RS, Lewis MA, Harper BA, Moultrie RR, Gwaltney A, Gehtland LM, Peay HL, Duparc M, Raspa M, Wheeler AC, Powell CM, King NMP, Shone SM, Bailey DB Jr. Clin Transl Sci. 2020 Dec 31. doi: 10.1111/cts.12950. Online ahead of print.

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Reedich EJ, Kalski M, Armijo N, Cox GA, DiDonato CJ. Exp Neurol. 2020 Dec 28:113587. doi: 10.1016/j.expneurol.2020.113587. Online ahead of print. PMID: 33382987.

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Rietz A, Hodgetts KJ, Lusic H, Quist KM, Osman EY, Lorson CL, Androphy EJ. Life Sci Alliance. 2020 Nov 24;4(1):e202000889. doi: 10.26508/lsa.202000889. Print 2021 Jan. PMID:
33234679.

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2020

Coratti G, Messina S, Lucibello S, Pera MC, Montes J, Pasternak A, Bovis F, Exposito Escudero J, Mazzone ES, Mayhew A, Glanzman AM, Young SD, Salazar R, Duong T, Muni Lofra R, De Sanctis R, Carnicella S, Milev E, Civitello M, Pane M, Scoto M, Bettolo CM, Antonaci L, Frongia A, Sframeli M, Vita GL, D’Amico A, Van Den Hauwe M, Albamonte E, Goemans N, Darras BT, Bertini E, Sansone V, Day J, Nascimento Osorio A, Bruno C, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Ann Neurol. 2020 Dec;88(6):1109-1117. doi: 10.1002/ana.25900. Epub 2020 Oct 2.

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Yeo CJJ, Simeone SD, Townsend EL, Zhang RZ, Swoboda KJ. J Neuromuscul Dis. 2020;7(3):257-268. doi: 10.3233/JND-190453.

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Belter L, Jarecki J, Reyna SP, Cruz R, Jones CC, Schroth M, O’Toole CM, O’Brien S, Hall SA, Johnson NB, Paradis AD.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7902958/.

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Glascock J, Sampson J, Connolly AM, Darras BT, Day JW, Finkel R, Howell RR, Klinger KW, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J.J Neuromuscul Dis. 2020;7(2):97-100. doi: 10.3233/JND-190468.

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Rodriguez-Torres, Rafaela; Fabiano, Julia; Goodwin, Ashley; Rao, Ashwini K; Kinirons, Stacy; De Vivo, Darryl; Montes, Jacqueline; J Neuromuscul Dis. 2020,vol. 7, no. 4, pp. 459-466. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344600/.

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Siranosian JJ, Nery FC, Alves CRR, Siranosian BA, Lyons NJ, Eichelberger EJ, Garner R, Da Silva Duarte Lepez S, Johnstone AJ, Subramanian A, Swoboda KJ. Ann Clin Transl Neurol. 2020 Jun 17. doi: 10.1002/acn3.51092.

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Townsend EL, Simeone SD, Krosschell KJ, Zhang RZ, Swoboda KJ; Project Cure SMA Investigatorʼs Network. Pediatr Phys Ther. 2020 Jun 16. doi: 10.1097/PEP.0000000000000713.

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Khayrullina G, Moritz KE, Schooley JF, Fatima N, Viollet C, McCormack NM, Smyth JT, Doughty ML, Dalgard CL, Flagg TP, Burnett BG. Skelet Muscle. 2020 May 8;10(1):16. doi: 10.1186/s13395-020-00232-7.

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Alves CRR, Zhang R, Johnstone AJ, Garner R, Eichelberger EJ, Da Silva Duarte Lepez S, Yi V, Stevens V, Poxson R, Schwartz R, Zaworski P, Swoboda KJ. Muscle Nerve. 2020 Jun 8. doi: 10.1002/mus.26995.

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Deguise MO, Beauvais A, Schneider BL, Kothary R. J Neuromuscul Dis. 2020 Apr 24. doi: 10.3233/JND-200493.

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Deguise MO, De Repentigny Y, Tierney A, Beauvais A, Michaud J, Chehade L, Thabet M, Paul B, Reilly A, Gagnon S, Renaud JM, Kothary R. EBioMedicine. 2020 Apr 24;55:102750. doi: 10.1016/j.ebiom.2020.102750.

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Sheng L, Rigo F, Bennett CF, Krainer AR, Hua Y. Nucleic Acids Res. 2020 Feb 27. pii: gkaa126. doi: 10.1093/nar/gkaa126.

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Kim JK, Jha NN, Feng Z, Faleiro MR, Chiriboga CA, Wei-Lapierre L, Dirksen RT, Ko CP, Monani UR. J Clin Invest. 2020 Feb 10. pii: 131989. doi: 10.1172/JCI131989.

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Tejero R, Balk S, Franco-Espin J, Ojeda J, Hennlein L, Drexl H, Dombert B, Clausen JD, Torres-Benito L, Saal- Bauernschubert L, Blum R, Briese M, Appenzeller S, Tabares L, Jablonka S.

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2019

Alves CRR, Zhang R, Johnstone AJ, Garner R, Nwe PH, Siranosian JJ, Swoboda KJ. Neurology. 2019 Dec 27. pii: 10.1212/WNL.0000000000008762. doi: 10.1212/WNL.0000000000008762.

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Antoine M, Patrick KL, Soret J, Duc P, Rage F, Cacciottolo R, Nissen KE, Cauchi RJ, Krogan NJ, Guthrie C, Gachet Y, Bordonné R. iScience. 2019 Dec 28;23(1):100809. doi: 10.1016/j.isci.2019.100809.

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Simon CM, Van Alstyne M, Lotti F, Bianchetti E, Tisdale S, Watterson DM, Mentis GZ, Pellizzoni L. Cell Rep. 2019 Dec 17;29(12):3885-3901.e5. doi:
10.1016/j.celrep.2019.11.058.

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Annapoorna Kannan, Xiaoting Jiang, Lan He, Saif Ahmad, Laxman Gangwani. Brain, awz373, https://doi.org/10.1093/brain/awz373. Published: 12 December 2019.

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Eshraghi M, Gombar R, De Repentigny Y, Vacratsis PO, Kothary R. J Proteome Res. 2019 Aug 2;18(8):3042-3051. doi:
10.1021/acs.jproteome.9b00159. Epub 2019 Jul 11.

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Nagy JA, DiDonato CJ, Rutkove SB, Sanchez B. Sci Data. 2019 Apr 18;6(1):37. doi: 10.1038/s41597-019-0045-2.

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Nery FC, Siranosian JJ, Rosales I, Deguise MO, Sharma A, Muhtaseb AW, Nwe P, Johnstone AJ, Zhang R, Fatouraei M, Huemer N, Alves CRR, Kothary R, Swoboda KJ. Neurol Genet. 2019 Aug 12;5(5):e353. doi: 10.1212/NXG.0000000000000353. eCollection 2019 Oct.

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Elsheikh B, King W, Peng J, Swoboda KJ, Reyna SP, LaSalle B, Prior TW, Arnold WD, Kissel JT, Kolb SJ. Muscle Nerve. 2019 Nov 14. doi: 10.1002/mus.26756. [Epub ahead of print]

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Jones CC, Cook SF, Jarecki J, Belter L, Reyna SP, Staropoli J, Farwell W, Hobby K. J Neuromuscul Dis. 2019 Nov 5. doi: 10.3233/JND-190399. [Epub ahead of print]

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Deguise MO, Chehade L, Tierney A, Beauvais A, Kothary R. Ann Clin Transl Neurol. 2019 Oct 13. doi: 10.1002/acn3.50920. [Epub ahead of print]

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Campagne S, Boigner S, Rüdisser S, Moursy A, Gillioz L, Knörlein A, Hall J, Ratni H, Cléry A, Allain FH. Nat Chem Biol.
2019 Oct 21. doi: 10.1038/s41589-019-0384-5.
[Epub ahead of print]

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Deguise MO, Baranello G, Mastella C, Beauvais A, Michaud J, Leone A, De Amicis R, Battezzati A, Dunham C, Selby K, Warman Chardon J, McMillan HJ, Huang YT, Courtney NL, Mole AJ, Kubinski S, Claus P, Murray LM, Bowerman M, Gillingwater TH, Bertoli S, Parson SH, Kothary R. Ann Clin Transl Neurol. 2019 Aug;6(8):1519-1532. doi: 10.1002/acn3.50855. Epub 2019 Jul 26.

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Al-Zaidy SA, Kolb SJ, Lowes L, Alfano LN, Shell R, Church KR, Nagendran S, Sproule DM, Feltner DE, Wells C, Ogrinc F, Menier M, L’Italien J, Arnold WD, Kissel JT, Kaspar BK, Mendell JR J Neuromuscul Dis. 2019 Jul 30. doi: 10.3233/JND-190403.

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Pilato CM, Park JH, Kong L, d’Ydewalle C, Valdivia D, Chen KS, Griswold-Prenner I, Sumner CJ. Hum Mol Genet. 2019 Jul 4. pii: ddz150. doi: 10.1093/hmg/ddz150.

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Courtney NL, Mole AJ, Thomson AK, Murray LM. Cell Death Dis. 2019 Jul 4;10(7):515. doi: 10.1038/s41419-019-1727-6.

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Gao X, Xu J, Chen H, Xue D, Pan W, Zhou C, Ma YC, Ma L. Front Genet. 2019 May 3;10:410. doi: 10.3389/fgene.2019.00410. eCollection 2019.

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Osman EY, Rietz A, Kline RA, Cherry JJ, Hodgetts KJ, Lorson CL, Androphy EJ. Sci Rep. 2019 Feb 7;9(1):1633. doi: 10.1038/s41598-018-38208-9.

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Alfano LN, Miller NF, Iammarino MA, Moore Clingenpeel M, Lowes SL, Dugan ME, Kissel JT, Al Zaidy S, Tsao CY, Lowes LP. Dev Med Child Neurol. 2019 Apr 8. doi: 10.1111/dmcn.14230.

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Custer SK, Astroski JW, Li HX, Androphy EJ. Biochem Biophys Res Commun. 2019 May 3. pii: S0006-291X(19)30833-2. doi:
10.1016/j.bbrc.2019.04.176. Orphanet J Rare Dis. 2021 Feb 22;16(1):96. doi: 10.1186/s13023-021-01701-y.

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Cure SMA Industry Collaboration (SMA-IC) Publications

See additional resources and materials below from the SMA Industry Collaboration.

2023

Peterson IS, Belter LT, Curry MA, Jarecki J. Telemed J E Health. 2023 Aug 11.

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Belter L, Peterson I, Jarecki J. Neurol Ther. 2023;12(6):2161-2175.

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Dunaway Young S, McGrattan K, Johnson E, et al. J Neuromuscul Dis. 2023;10(4):639-652.

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Curry M, Peterson I, Belter L, et al. Neurol Ther. 2023;10.1007/s40120-023-00516-2.

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Dunaway Young S, Pasternak A, Duong T, et al. J Neuromuscul Dis. 2023;10(2):199-209.

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2022

Belter L, Mazzella A, O'Brien S, Jarecki J. PLoS One. 2022;17(11):e0276756.

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Krosschell KJ, Dunaway Young S, Peterson I, et al. Phys Ther. 2022;102(10).

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Mazzella A, Cruz R, Belter L, et al. Muscle Nerve. 2022;66(3):276-281.

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Peterson IS, Mazzella AJ, Belter LT, Curry MA, Cruz RE, Jarecki J. Neurol Ther. 2022;11(3):1167-1181.

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Tizzano EF, Christie-Brown V, Baranello G, et al. Journal of Neuromuscular Diseases. 2022;9(6):809-820.

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2021

Zizzi CE, Luebbe E, Mongiovi P, et al. Muscle Nerve. 2021 Jun;63(6):837-844.

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Sansone VA, Pirola A, Lizio A, et al. Neuromuscul Disord. 2021 May;31(5):409-418.

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Curry, M., Cruz, R., Belter, L. et al. BMC Pediatr. 2021 May 17;21(1):236.

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Mazzella A, Curry M, Belter L, Cruz R, Jarecki J. Orphanet J Rare Dis. 2021 Feb 22;16(1):96.

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2020

Belter L, Cruz R, Kulas S, McGinnis E, Dabbous O, Jarecki J. J Mark Access Health Policy. 2020 Nov 8;8(1):1843277.

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Belter L, Cruz R, Jarecki J. Orphanet J Rare Dis. 2020 Aug 24;15(1):217.

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Peterson I, Cruz R, Sarr F, Stanley AM, Jarecki J. Orphanet J Rare Dis. 2020 May 22;15(1):118.

2019

Cruz R, Belter L, Wasnock M, Nazarelli A, Jarecki J. Clin Ther. 2019 May 3. pii: S0149-2918(19)30127-4.

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SMA-IC Online Resources and Materials

FDA Summary, October 2022.

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Published December 2023.

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Published August 2020.

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Supplement published in collaboration with Neurology Reviews, March 2020.

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Supplement published in collaboration with Neurology Reviews, December 2019.

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Part of Cure SMA Care Series Booklets, November 2019.

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Published November 2019.

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Published December 2018.

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Disseminated to the FDA January 2018.

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