آتروفی عضلانی نخاعی (Persian Wikipedia)

Analysis of information sources in references of the Wikipedia article "آتروفی عضلانی نخاعی" in Persian language version.

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107nih.gov

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7archive.org

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acog.org

"Carrier Screening in the Age of Genomic Medicine - ACOG". www.acog.org. Retrieved 24 February 2017.

afm-telethon.fr

amyotrophies-spinales.blogs.afm-telethon.fr

"Riluzole: premiers résultats décevants" (به فرانسوی). AFM Téléthon. 2010-09-22. Archived from the original on 8 December 2017. Retrieved 8 December 2017.

afp.com

"SPINRAZA® (Nusinersen) Approved in the European Union as First Treatment for Spinal Muscular Atrophy". AFP. 2017-06-01. Retrieved 2017-06-01.

archive.org

Bach, J. R.; Niranjan, V.; Weaver, B. (2000). "Spinal Muscular Atrophy Type 1: A Noninvasive Respiratory Management Approach". Chest. 117 (4): 1100–1105. doi:10.1378/chest.117.4.1100. PMID 10767247.
Bach, J. R.; Saltstein, K.; Sinquee, D.; Weaver, B.; Komaroff, E. (2007). "Long-Term Survival in Werdnig–Hoffmann Disease". American Journal of Physical Medicine & Rehabilitation. 86 (5): 339–45 quiz 346–8, 379. doi:10.1097/PHM.0b013e31804a8505. PMID 17449977.
Tein, I.; Sloane, A. E.; Donner, E. J.; Lehotay, D. C.; Millington, D. S.; Kelley, R. I. (1995). "Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: Primary or secondary defect(s)?". Pediatric neurology. 12 (1): 21–30. doi:10.1016/0887-8994(94)00100-G. PMID 7748356.
Bach, J. R. (2007). "Medical Considerations of Long-Term Survival of Werdnig–Hoffmann Disease". American Journal of Physical Medicine & Rehabilitation. 86 (5): 349–55. doi:10.1097/PHM.0b013e31804b1d66. PMID 17449979.
Narver, H. L.; Kong, L.; Burnett, B. G.; Choe, D. W.; Bosch-Marcé, M.; Taye, A. A.; Eckhaus, M. A.; Sumner, C. J. (2008). "Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition". Annals of Neurology. 64 (4): 465–470. doi:10.1002/ana.21449. PMID 18661558.
Takeuchi, Y.; Miyanomae, Y.; Komatsu, H.; Oomizono, Y.; Nishimura, A.; Okano, S.; Nishiki, T.; Sawada, T. (1994). "Efficacy of Thyrotropin-Releasing Hormone in the Treatment of Spinal Muscular Atrophy". Journal of Child Neurology. 9 (3): 287–289. doi:10.1177/088307389400900313. PMID 7930408.
Haddad, Hafedh; Cifuentes-Diaz, Carmen; Miroglio, Audrey; Roblot, Natacha; Joshi, Vandana; Melki, Judith (2003). "Riluzole attenuates spinal muscular atrophy disease progression in a mouse model". Muscle & Nerve. 28 (4): 432–437. doi:10.1002/mus.10455.

childrenshospital.org

"Spinal Muscular Atrophy (SMA) | Boston Children's Hospital". www.childrenshospital.org. Retrieved 2020-10-25.

childrensnational.org

"Spinal Muscular Atrophy - Conditions | Children's National". childrensnational.org. Retrieved 2020-10-25.

clinicaltrials.gov

"Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy (STOPSMA)". Retrieved 28 December 2011.
"Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA)". ClinicalTrials.gov. Retrieved 2016-05-20.

curesma.org

Apkon, Susan (Summer 2017). "SMA CARE SERIES - Musculoskeletal System" (PDF). www.curesma.org. Archived from the original (PDF) on 19 February 2018.
"Biogen Releases Community Statement on Spinraza Access and New Data | Cure SMA". www.curesma.org. Archived from the original on 19 July 2019. Retrieved 2018-09-11.
"Novartis Releases Update on LMI070 (Branaplam) Clinical Trial". CureSMA. Archived from the original on 25 November 2017. Retrieved 2017-10-07.

cytokinetics.com

"CK-2127107". Archived from the original on 11 May 2017. Retrieved 8 December 2017.

doi.org

Verhaart, Ingrid E. C.; Robertson, Agata; Leary, Rebecca; McMacken, Grace; König, Kirsten; Kirschner, Janbernd; Jones, Cynthia C.; Cook, Suzanne F.; Lochmüller, Hanns (July 2017). "A multi-source approach to determine SMA incidence and research ready population". Journal of Neurology (به انگلیسی). 264 (7): 1465–1473. doi:10.1007/s00415-017-8549-1. ISSN 0340-5354. PMC 5502065. PMID 28634652.
Main, M.; Kairon, H.; Mercuri, E.; Muntoni, F. (2003). "The Hammersmith Functional Motor Scale for Children with Spinal Muscular Atrophy: A Scale to Test Ability and Monitor Progress in Children with Limited Ambulation". European Journal of Paediatric Neurology. 7 (4): 155–159. doi:10.1016/S1090-3798(03)00060-6. PMID 12865054.
Krosschell, K. J.; Maczulski, J. A.; Crawford, T. O.; Scott, C.; Swoboda, K. J. (2006). "A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy". Neuromuscular Disorders. 16 (7): 417–426. doi:10.1016/j.nmd.2006.03.015. PMC 3260054. PMID 16750368.
O'Hagen, J. M.; Glanzman, A. M.; McDermott, M. P.; Ryan, P. A.; Flickinger, J.; Quigley, J.; Riley, S.; Sanborn, E.; Irvine, C.; Martens, W. B.; Annis, C.; Tawil, R.; Oskoui, M.; Darras, B. T.; Finkel, R. S.; De Vivo, D. C. (2007). "An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients". Neuromuscular Disorders. 17 (9–10): 693–697. doi:10.1016/j.nmd.2007.05.009. PMID 17658255.
Glanzman, A. M.; O'Hagen, J. M.; McDermott, M. P.; Martens, W. B.; Flickinger, J.; Riley, S.; Quigley, J.; Montes, J.; Dunaway, S.; Deng, L.; Chung, W. K.; Tawil, R.; Darras, B. T.; De Vivo, D. C.; Kaufmann, P.; Finkel, R. S.; Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR) (2011). "Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III". Journal of Child Neurology. 26 (12): 1499–1507. doi:10.1177/0883073811420294. PMID 21940700.
Dubowitz, V. (2009). "Ramblings in the history of spinal muscular atrophy". Neuromuscular Disorders. 19 (1): 69–73. doi:10.1016/j.nmd.2008.10.004. PMID 18951794.
Brzustowicz, L. M.; Lehner, T.; Castilla, L. H.; Penchaszadeh, G. K.; Wilhelmsen, K. C.; Daniels, R.; Davies, K. E.; Leppert, M.; Ziter, F.; Wood, D.; Dubowitz, V.; Zerres, K.; Hausmanowa-Petrusewicz, I.; Ott, J.; Munsat, T. L.; Gilliam, T. C. (1990). "Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3". Nature. 344 (6266): 540–541. Bibcode:1990Natur.344..540B. doi:10.1038/344540a0. PMID 2320125.
Su, Y. N.; Hung, C. C.; Lin, S. Y.; Chen, F. Y.; Chern, J. P. S.; Tsai, C.; Chang, T. S.; Yang, C. C.; Li, H.; Ho, H. N.; Lee, C. N. (2011). Schrijver, Iris (ed.). "Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study". PLoS ONE. 6 (2): e17067. Bibcode:2011PLoSO...617067S. doi:10.1371/journal.pone.0017067. PMC 3045421. PMID 21364876.
Sugarman, E. A.; Nagan, N.; Zhu, H.; Akmaev, V. R.; Zhou, Z.; Rohlfs, E. M.; Flynn, K.; Hendrickson, B. C.; Scholl, T.; Sirko-Osadsa, D. A.; Allitto, B. A. (2011). "Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of>72 400 specimens". European Journal of Human Genetics. 20 (1): 27–32. doi:10.1038/ejhg.2011.134. PMC 3234503. PMID 21811307.
Ottesen EW (January 2017). "ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy". Translational Neuroscience. 8 (1): 1–6. doi:10.1515/tnsci-2017-0001. PMC 5382937. PMID 28400976.
Little, S. E.; Janakiraman, V.; Kaimal, A.; Musci, T.; Ecker, J.; Caughey, A. B. (2010). "The cost-effectiveness of prenatal screening for spinal muscular atrophy". American Journal of Obstetrics and Gynecology. 202 (3): 253.2e1. doi:10.1016/j.ajog.2010.01.032. PMID 20207244.
Prior, T. W.; Professional Practice Guidelines Committee (2008). "Carrier screening for spinal muscular atrophy". Genetics in Medicine. 10 (11): 840–842. doi:10.1097/GIM.0b013e318188d069. PMC 3110347. PMID 18941424.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. (November 2017). "Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy". New England Journal of Medicine. 377 (18): 1723–32. doi:10.1056/NEJMoa1702752. PMID 29091570. S2CID 4771819.
Wadman, Renske I.; van der Pol, W. Ludo; Bosboom, Wendy Mj; Asselman, Fay-Lynn; van den Berg, Leonard H.; Iannaccone, Susan T.; Vrancken, Alexander Fje (1 June 2020). "Drug treatment for spinal muscular atrophy types II and III". The Cochrane Database of Systematic Reviews. 1: CD006282. doi:10.1002/14651858.CD006282.pub5. ISSN 1469-493X. PMC 6995983. PMID 32006461.
Zhao X, Feng Z, Ling KK, Mollin A, Sheedy J, Yeh S, et al. (May 2016). "Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy". Human Molecular Genetics. 25 (10): 1885–1899. doi:10.1093/hmg/ddw062. PMC 5062580. PMID 26931466.
Bach, J. R.; Niranjan, V.; Weaver, B. (2000). "Spinal Muscular Atrophy Type 1: A Noninvasive Respiratory Management Approach". Chest. 117 (4): 1100–1105. doi:10.1378/chest.117.4.1100. PMID 10767247.
Bach, J. R.; Saltstein, K.; Sinquee, D.; Weaver, B.; Komaroff, E. (2007). "Long-Term Survival in Werdnig–Hoffmann Disease". American Journal of Physical Medicine & Rehabilitation. 86 (5): 339–45 quiz 346–8, 379. doi:10.1097/PHM.0b013e31804a8505. PMID 17449977.
Messina, S.; Pane, M.; De Rose, P.; Vasta, I.; Sorleti, D.; Aloysius, A.; Sciarra, F.; Mangiola, F.; Kinali, M.; Bertini, E.; Mercuri, E. (2008). "Feeding problems and malnutrition in spinal muscular atrophy type II". Neuromuscular Disorders. 18 (5): 389–393. doi:10.1016/j.nmd.2008.02.008. PMID 18420410.
Chen, Y. S.; Shih, H. H.; Chen, T. H.; Kuo, C. H.; Jong, Y. J. (2011). "Prevalence and Risk Factors for Feeding and Swallowing Difficulties in Spinal Muscular Atrophy Types II and III". The Journal of Pediatrics. 160 (3): 447–451.e1. doi:10.1016/j.jpeds.2011.08.016. PMID 21924737.
Tilton, A.; Miller, M.; Khoshoo, V. (1998). "Nutrition and swallowing in pediatric neuromuscular patients". Seminars in Pediatric Neurology. 5 (2): 106–115. doi:10.1016/S1071-9091(98)80026-0. PMID 9661244.
Tein, I.; Sloane, A. E.; Donner, E. J.; Lehotay, D. C.; Millington, D. S.; Kelley, R. I. (1995). "Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: Primary or secondary defect(s)?". Pediatric neurology. 12 (1): 21–30. doi:10.1016/0887-8994(94)00100-G. PMID 7748356.
Crawford, T. O.; Sladky, J. T.; Hurko, O.; Besner-Johnston, A.; Kelley, R. I. (1999). "Abnormal fatty acid metabolism in childhood spinal muscular atrophy". Annals of Neurology. 45 (3): 337–343. doi:10.1002/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U. PMID 10072048.
Rudnik-Schoneborn, S.; Heller, R.; Berg, C.; Betzler, C.; Grimm, T.; Eggermann, T.; Eggermann, K.; Wirth, R.; Wirth, B.; Zerres, K. (2008). "Congenital heart disease is a feature of severe infantile spinal muscular atrophy". Journal of Medical Genetics. 45 (10): 635–638. doi:10.1136/jmg.2008.057950. PMID 18662980.
Heier, C. R.; Satta, R.; Lutz, C.; Didonato, C. J. (2010). "Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice". Human Molecular Genetics. 19 (20): 3906–3918. doi:10.1093/hmg/ddq330. PMC 2947406. PMID 20693262.
Shababi, M.; Habibi, J.; Yang, H. T.; Vale, S. M.; Sewell, W. A.; Lorson, C. L. (2010). "Cardiac defects contribute to the pathology of spinal muscular atrophy models". Human Molecular Genetics. 19 (20): 4059–4071. doi:10.1093/hmg/ddq329. PMID 20696672.
Bevan, A. K.; Hutchinson, K. R.; Foust, K. D.; Braun, L.; McGovern, V. L.; Schmelzer, L.; Ward, J. G.; Petruska, J. C.; Lucchesi, P. A.; Burghes, A. H. M.; Kaspar, B. K. (2010). "Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery". Human Molecular Genetics. 19 (20): 3895–3905. doi:10.1093/hmg/ddq300. PMC 2947399. PMID 20639395.
Von Gontard, A.; Zerres, K.; Backes, M.; Laufersweiler-Plass, C.; Wendland, C.; Melchers, P.; Lehmkuhl, G.; Rudnik-Schöneborn, S. (2002). "Intelligence and cognitive function in children and adolescents with spinal muscular atrophy". Neuromuscular Disorders. 12 (2): 130–136. doi:10.1016/S0960-8966(01)00274-7. PMID 11738354.
Billard, C.; Gillet, P.; Signoret, J. L.; Uicaut, E.; Bertrand, P.; Fardeau, M.; Barthez-Carpentier, M. A.; Santini, J. J. (1992). "Cognitive functions in duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy". Neuromuscular Disorders. 2 (5–6): 371–378. doi:10.1016/S0960-8966(06)80008-8. PMID 1300185.
Laufersweiler-Plass, C.; Rudnik-Schöneborn, S.; Zerres, K.; Backes, M.; Lehmkuhl, G.; Von Gontard, A. (2002). "Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings". Developmental Medicine & Child Neurology. 45. doi:10.1017/S0012162203000082.
De Oliveira, C. M.; Araújo, A. P. D. Q. C. (2011). "Self-reported quality of life has no correlation with functional status in children and adolescents with spinal muscular atrophy". European Journal of Paediatric Neurology. 15 (1): 36–39. doi:10.1016/j.ejpn.2010.07.003. PMID 20800519.
Yuan, N.; Wang, C. H.; Trela, A.; Albanese, C. T. (2007). "Laparoscopic Nissen Fundoplication During Gastrostomy Tube Placement and Noninvasive Ventilation May Improve Survival in Type I and Severe Type II Spinal Muscular Atrophy". Journal of Child Neurology. 22 (6): 727–731. doi:10.1177/0883073807304009. PMID 17641258.
Bach, J. R. (2007). "Medical Considerations of Long-Term Survival of Werdnig–Hoffmann Disease". American Journal of Physical Medicine & Rehabilitation. 86 (5): 349–55. doi:10.1097/PHM.0b013e31804b1d66. PMID 17449979.
Oskoui, M; Levy, G; Garland, C. J.; Gray, J. M.; O'Hagen, J; De Vivo, D. C.; Kaufmann, P (2007). "The changing natural history of spinal muscular atrophy type 1". Neurology. 69 (20): 1931–6. doi:10.1212/01.wnl.0000290830.40544.b9. PMID 17998484.
Lefebvre, Suzie; Bürglen, Lydie; Reboullet, Sophie; Clermont, Olivier; Burlet, Philippe; Viollet, Louis; Benichou, Bernard; Cruaud, Corinne; Millasseau, Philippe (1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–165. doi:10.1016/0092-8674(95)90460-3. PMID 7813012.
d’Ydewalle, Constantin; Sumner, Charlotte J. (2015-01-29). "Spinal Muscular Atrophy Therapeutics: Where do we Stand?". Neurotherapeutics (به انگلیسی). 12 (2): 303–316. doi:10.1007/s13311-015-0337-y. ISSN 1933-7213. PMC 4404440. PMID 25631888.
Benkhelifa-Ziyyat, Sofia; Besse, Aurore; Roda, Marianne; Duque, Sandra; Astord, Stéphanie; Carcenac, Romain; Marais, Thibaut; Barkats, Martine (2013). "Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice". Molecular Therapy. 21 (2): 282–290. doi:10.1038/mt.2012.261. PMC 3594018. PMID 23295949.
Zhang, M. L.; Lorson, C. L.; Androphy, E. J.; Zhou, J. (2001). "An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA". Gene Therapy. 8 (20): 1532–1538. doi:10.1038/sj.gt.3301550. PMID 11704813.
Andreassi, C.; Jarecki, J.; Zhou, J.; Coovert, D. D.; Monani, U. R.; Chen, X.; Whitney, M.; Pollok, B.; Zhang, M.; Androphy, E.; Burghes, A. H. (2001). "Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients". Human Molecular Genetics. 10 (24): 2841–2849. doi:10.1093/hmg/10.24.2841. PMID 11734549.
Zhou, Haiyan; Meng, Jinhong; Marrosu, Elena; Janghra, Narinder; Morgan, Jennifer; Muntoni, Francesco (2015). "Repeated low doses of morpholino antisense oligomer: An intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response". Human Molecular Genetics. 24 (22): 6265–77, 6265. doi:10.1093/hmg/ddv329. PMC 4614699. PMID 26264577.
Hammond, Suzan M.; Hazell, Gareth; Shabanpoor, Fazel; Saleh, Amer F.; Bowerman, Melissa; Sleigh, James N.; Meijboom, Katharina E.; Zhou, Haiyan; Muntoni, Francesco (2016-09-27). "Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy". Proceedings of the National Academy of Sciences (به انگلیسی). 113 (39): 10962–10967. doi:10.1073/pnas.1605731113. ISSN 0027-8424. PMC 5047168. PMID 27621445.
Angelozzi, C.; Borgo, F.; Tiziano, F. D.; Martella, A.; Neri, G.; Brahe, C. (2007). "Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells". Journal of Medical Genetics. 45 (1): 29–31. doi:10.1136/jmg.2007.051177. PMID 17932121.
Pane, M.; Staccioli, S.; Messina, S.; d'Amico, A.; Pelliccioni, M.; Mazzone, E. S.; Cuttini, M.; Alfieri, P.; Battini, R.; Main, M.; Muntoni, F.; Bertini, E.; Villanova, M.; Mercuri, E. (2008). "Daily salbutamol in young patients with SMA type II". Neuromuscular Disorders. 18 (7): 536–540. doi:10.1016/j.nmd.2008.05.004. PMID 18579379.
Tiziano, F. D.; Lomastro, R.; Pinto, A. M.; Messina, S.; d'Amico, A.; Fiori, S.; Angelozzi, C.; Pane, M.; Mercuri, E.; Bertini, E.; Neri, G.; Brahe, C. (2010). "Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: Relevance for clinical trial design". Journal of Medical Genetics. 47 (12): 856–858. doi:10.1136/jmg.2010.080366. PMID 20837492.
Morandi, L. (2013). "P.6.4 Salbutamol tolerability and efficacy in adult type III SMA patients: Results of a multicentric, molecular and clinical, double-blind, placebo-controlled study". Neuromuscular Disorders. 23 (9–10): 771. doi:10.1016/j.nmd.2013.06.475.
Chang, J. -G.; Hsieh-Li, H. -M.; Jong, Y. -J.; Wang, N. M.; Tsai, C. -H.; Li, H. (2001). "Treatment of spinal muscular atrophy by sodium butyrate". Proceedings of the National Academy of Sciences. 98 (17): 9808–9813. Bibcode:2001PNAS...98.9808C. doi:10.1073/pnas.171105098.
Andreassi, C.; Angelozzi, C.; Tiziano, F. D.; Vitali, T.; De Vincenzi, E.; Boninsegna, A.; Villanova, M.; Bertini, E.; Pini, A.; Neri, G.; Brahe, C. (2003). "Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy". European Journal of Human Genetics. 12 (1): 59–65. doi:10.1038/sj.ejhg.5201102. PMID 14560316.
Brahe, C.; Vitali, T.; Tiziano, F. D.; Angelozzi, C.; Pinto, A. M.; Borgo, F.; Moscato, U.; Bertini, E.; Mercuri, E.; Neri, G. (2004). "Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients". European Journal of Human Genetics. 13 (2): 256–259. doi:10.1038/sj.ejhg.5201320. PMID 15523494.
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, F. D.; Villanova, M.; Vita, G.; Brahe, C. (2007). "Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy". Neurology. 68 (1): 51–55. doi:10.1212/01.wnl.0000249142.82285.d6. PMID 17082463.
Brichta, L.; Hofmann, Y.; Hahnen, E.; Siebzehnrubl, F. A.; Raschke, H.; Blumcke, I.; Eyupoglu, I. Y.; Wirth, B. (2003). "Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy". Human Molecular Genetics. 12 (19): 2481–2489. doi:10.1093/hmg/ddg256. PMID 12915451.
Tsai, L. K.; Tsai, M. S.; Ting, C. H.; Li, H. (2008). "Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice". Journal of Molecular Medicine. 86 (11): 1243–1254. doi:10.1007/s00109-008-0388-1. PMID 18649067.
Swoboda, K. J.; Scott, C. B.; Crawford, T. O.; Simard, L. R.; Reyna, S. P.; Krosschell, K. J.; Acsadi, G.; Elsheik, B.; Schroth, M. K.; d'Anjou, G.; Lasalle, B.; Prior, T. W.; Sorenson, S. L.; MacZulski, J. A.; Bromberg, M. B.; Chan, G. M.; Kissel, J. T.; Project Cure Spinal Muscular Atrophy Investigators Network (2010). Boutron, Isabelle (ed.). "SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy". PLoS ONE. 5 (8): e12140. Bibcode:2010PLoSO...512140S. doi:10.1371/journal.pone.0012140. PMC 2924376. PMID 20808854.
Kissel, J. T.; Scott, C. B.; Reyna, S. P.; Crawford, T. O.; Simard, L. R.; Krosschell, K. J.; Acsadi, G.; Elsheik, B.; Schroth, M. K.; d'Anjou, G.; Lasalle, B.; Prior, T. W.; Sorenson, S.; MacZulski, J. A.; Bromberg, M. B.; Chan, G. M.; Swoboda, K. J.; Project Cure Spinal Muscular Atrophy Investigators' Network (2011). Feany, Mel B. (ed.). "SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy". PLoS ONE. 6 (7): e21296. Bibcode:2011PLoSO...621296K. doi:10.1371/journal.pone.0021296. PMC 3130730. PMID 21754985.
Darbar, I. A.; Plaggert, P. G.; Resende, M. B. D.; Zanoteli, E.; Reed, U. C. (2011). "Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid". BMC Neurology. 11: 36. doi:10.1186/1471-2377-11-36. PMC 3078847. PMID 21435220.
Garbes, L.; Heesen, L.; Holker, I.; Bauer, T.; Schreml, J.; Zimmermann, K.; Thoenes, M.; Walter, M.; Dimos, J.; Peitz, M.; Brustle, O.; Heller, R.; Wirth, B. (2012). "VPA response in SMA is suppressed by the fatty acid translocase CD36". Human Molecular Genetics. 22 (2): 398–407. doi:10.1093/hmg/dds437. PMID 23077215.
Rak, K.; Lechner, B. D.; Schneider, C.; Drexl, H.; Sendtner, M.; Jablonka, S. (2009). "Valproic acid blocks excitability in SMA type I mouse motor neurons". Neurobiology of Disease. 36 (3): 477–487. doi:10.1016/j.nbd.2009.08.014. PMID 19733665.
Grzeschik, S. M.; Ganta, M.; Prior, T. W.; Heavlin, W. D.; Wang, C. H. (2010). "Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells". Annals of Neurology. 58 (2): 194–202. doi:10.1002/ana.20548. PMID 16049920.
Chen, T. - H.; Chang, J. - G.; Yang, Y. - H.; Mai, H. - H.; Liang, W. - C.; Wu, Y. - C.; Wang, H. - Y.; Huang, Y. - B.; Wu, S. - M.; Chen, Y. - C.; Yang, S. - N.; Jong, Y. - J. (2010). "Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy". Neurology. 75 (24): 2190–2197. doi:10.1212/WNL.0b013e3182020332. PMID 21172842.
Evans, M. C.; Cherry, J. J.; Androphy, E. J. (2011). "Differential regulation of the SMN2 gene by individual HDAC proteins". Biochemical and Biophysical Research Communications. 414 (1): 25–30. doi:10.1016/j.bbrc.2011.09.011. PMID 21925145.
Riessland, M.; Brichta, L.; Hahnen, E.; Wirth, B. (2006). "The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells". Human Genetics. 120 (1): 101–110. doi:10.1007/s00439-006-0186-1. PMID 16724231.
Garbes, L.; Riessland, M.; Hölker, I.; Heller, R.; Hauke, J.; Tränkle, C.; Coras, R.; Blümcke, I.; Hahnen, E.; Wirth, B. (2009). "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". Human Molecular Genetics. 18 (19): 3645–3658. doi:10.1093/hmg/ddp313. PMID 19584083.
Narver, H. L.; Kong, L.; Burnett, B. G.; Choe, D. W.; Bosch-Marcé, M.; Taye, A. A.; Eckhaus, M. A.; Sumner, C. J. (2008). "Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition". Annals of Neurology. 64 (4): 465–470. doi:10.1002/ana.21449. PMID 18661558.
Avila, A. M.; Burnett, B. G.; Taye, A. A.; Gabanella, F.; Knight, M. A.; Hartenstein, P.; Cizman, Z.; Di Prospero, N. A.; Pellizzoni, L.; Fischbeck, K. H.; Sumner, C. J. (2007). "Trichostatin a increases SMN expression and survival in a mouse model of spinal muscular atrophy". Journal of Clinical Investigation. 117 (3): 659–671. doi:10.1172/JCI29562. PMC 1797603. PMID 17318264.
Riessland, M.; Ackermann, B.; Förster, A.; Jakubik, M.; Hauke, J.; Garbes, L.; Fritzsche, I.; Mende, Y.; Blumcke, I.; Hahnen, E.; Wirth, B. (2010). "SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy". Human Molecular Genetics. 19 (8): 1492–1506. doi:10.1093/hmg/ddq023. PMID 20097677.
Farooq, F.; Molina, F. A. A.; Hadwen, J.; MacKenzie, D.; Witherspoon, L.; Osmond, M.; Holcik, M.; MacKenzie, A. (2011). "Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway". Journal of Clinical Investigation. 121 (8): 3042–3050. doi:10.1172/JCI46276. PMC 3148738. PMID 21785216.
Sakla, M. S.; Lorson, C. L. (2007). "Induction of full-length survival motor neuron by polyphenol botanical compounds". Human Genetics. 122 (6): 635–643. doi:10.1007/s00439-007-0441-0. PMID 17962980.
Dayangaç-Erden, D.; Bora, G.; Ayhan, P.; Kocaefe, Ç.; Dalkara, S.; Yelekçi, K.; Demir, A. S.; Erdem-Yurter, H. (2009). "Histone Deacetylase Inhibition Activity and Molecular Docking of (E)-Resveratrol: Its Therapeutic Potential in Spinal Muscular Atrophy". Chemical Biology & Drug Design. 73 (3): 355–364. doi:10.1111/j.1747-0285.2009.00781.x.
Farooq, F.; Abadia-Molina, F.; MacKenzie, D.; Hadwen, J.; Shamim, F.; O'Reilly, S.; Holcik, M.; MacKenzie, A. (2013). "Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation". Human Molecular Genetics. 22 (17): 3415–3424. doi:10.1093/hmg/ddt191. PMID 23656793.
Burnett, B. G.; Munoz, E.; Tandon, A.; Kwon, D. Y.; Sumner, C. J.; Fischbeck, K. H. (2008). "Regulation of SMN Protein Stability". Molecular and Cellular Biology. 29 (5): 1107–1115. doi:10.1128/MCB.01262-08. PMC 2643817. PMID 19103745.
Mattis, V. B.; Rai, R.; Wang, J.; Chang, C. W. T.; Coady, T.; Lorson, C. L. (2006). "Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts". Human Genetics. 120 (4): 589–601. doi:10.1007/s00439-006-0245-7. PMID 16951947.
Mattis, V. B.; Fosso, M. Y.; Chang, C. W.; Lorson, C. L. (2009). "Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA". BMC Neuroscience. 10: 142. doi:10.1186/1471-2202-10-142. PMC 2789732. PMID 19948047.
Lunn, M. R.; Root, D. E.; Martino, A. M.; Flaherty, S. P.; Kelley, B. P.; Coovert, D. D.; Burghes, A. H.; Thi Man, N.; Morris, G. E.; Zhou, J.; Androphy, E. J.; Sumner, C. J.; Stockwell, B. R. (2004). "Indoprofen Upregulates the Survival Motor Neuron Protein through a Cyclooxygenase-Independent Mechanism". Chemistry & Biology. 11 (11): 1489–1493. doi:10.1016/j.chembiol.2004.08.024. PMC 3160629. PMID 15555999.
Takeuchi, Y.; Miyanomae, Y.; Komatsu, H.; Oomizono, Y.; Nishimura, A.; Okano, S.; Nishiki, T.; Sawada, T. (1994). "Efficacy of Thyrotropin-Releasing Hormone in the Treatment of Spinal Muscular Atrophy". Journal of Child Neurology. 9 (3): 287–289. doi:10.1177/088307389400900313. PMID 7930408.
Tzeng, A. C.; Cheng, J.; Fryczynski, H.; Niranjan, V.; Stitik, T.; Sial, A.; Takeuchi, Y.; Foye, P.; Deprince, M.; Bach, J. R. (2000). "A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: A preliminary report". American Journal of Physical Medicine & Rehabilitation. 79 (5): 435–440. doi:10.1097/00002060-200009000-00005. PMID 10994885.
Kato, Z.; Okuda, M.; Okumura, Y.; Arai, T.; Teramoto, T.; Nishimura, M.; Kaneko, H.; Kondo, N. (2009). "Oral Administration of the Thyrotropin-Releasing Hormone (TRH) Analogue, Taltireline Hydrate, in Spinal Muscular Atrophy". Journal of Child Neurology. 24 (8): 1010–1012. doi:10.1177/0883073809333535. PMID 19666885.
Bosboom, W. M.; Vrancken, A. F. E.; Van Den Berg, L. H.; Wokke, J. H.; Iannaccone, S. T. (2009). Bosboom, Wendy MJ (ed.). "Drug treatment for spinal muscular atrophy type I". The Cochrane Library. doi:10.1002/14651858.CD006281.pub2.
Haddad, Hafedh; Cifuentes-Diaz, Carmen; Miroglio, Audrey; Roblot, Natacha; Joshi, Vandana; Melki, Judith (2003). "Riluzole attenuates spinal muscular atrophy disease progression in a mouse model". Muscle & Nerve. 28 (4): 432–437. doi:10.1002/mus.10455.
Dimitriadi, M.; Kye, M. J.; Kalloo, G.; Yersak, J. M.; Sahin, M.; Hart, A. C. (2013). "The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models". Journal of Neuroscience. 33 (15): 6557–62, p. 6557. doi:10.1523/JNEUROSCI.1536-12.2013. PMC 3652322. PMID 23575853.
Nizzardo, M.; Nardini, M.; Ronchi, D.; Salani, S.; Donadoni, C.; Fortunato, F.; Colciago, G.; Falcone, M.; Simone, C.; Riboldi, G.; Govoni, A.; Bresolin, N.; Comi, G. P.; Corti, S. (2011). "Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms". Experimental Neurology. 229 (2): 214–225. doi:10.1016/j.expneurol.2011.01.017. PMID 21295027.
Hedlund, E. (2011). "The protective effects of beta-lactam antibiotics in motor neuron disorders". Experimental Neurology. 231 (1): 14–18. doi:10.1016/j.expneurol.2011.06.002. PMID 21693120.
Rose, F. F.; Mattis, V. B.; Rindt, H.; Lorson, C. L. (2009). "Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy". Human Molecular Genetics. 18 (6): 997–1005. doi:10.1093/hmg/ddn426. PMC 2649020. PMID 19074460.
Carrozzi, Marco; Amaddeo, Alessandro; Biondi, Andrea; Zanus, Caterina; Monti, Fabrizio; Alessandro, Ventura (2012). "Stem cells in severe infantile spinal muscular atrophy (SMA1)". Neuromuscular Disorders. 22 (11): 1032–1034. doi:10.1016/j.nmd.2012.09.005.
Mercuri, Eugenio; Bertini, Enrico (2012). "Stem cells in severe infantile spinal muscular atrophy". Neuromuscular Disorders. 22 (12): 1105. doi:10.1016/j.nmd.2012.11.001.
Committee for Advanced Therapies CAT Scientific Secretariat. (2010). "Use of unregulated stem-cell based medicinal products". The Lancet. 376 (9740): 514. doi:10.1016/S0140-6736(10)61249-4. PMID 20709228.

elsevier.com

linkinghub.elsevier.com

Lefebvre, Suzie; Bürglen, Lydie; Reboullet, Sophie; Clermont, Olivier; Burlet, Philippe; Viollet, Louis; Benichou, Bernard; Cruaud, Corinne; Millasseau, Philippe (1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–165. doi:10.1016/0092-8674(95)90460-3. PMID 7813012.
Benkhelifa-Ziyyat, Sofia; Besse, Aurore; Roda, Marianne; Duque, Sandra; Astord, Stéphanie; Carcenac, Romain; Marais, Thibaut; Barkats, Martine (2013). "Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice". Molecular Therapy. 21 (2): 282–290. doi:10.1038/mt.2012.261. PMC 3594018. PMID 23295949.

europa.eu

ema.europa.eu

"Spinraza EPAR". European Medicines Agency (EMA). Retrieved 8 August 2020.
"Zolgensma EPAR". European Medicines Agency (EMA). 24 March 2020. Retrieved 8 August 2020.
European Medicines Agency (16 April 2010). "Concerns over unregulated medicinal products containing stem cells" (PDF). European Medicines Agency. Archived from the original (PDF) on 28 December 2013. Retrieved 8 December 2017.

fda.gov

"FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality". FDA (به انگلیسی). 24 May 2019. Retrieved 27 May 2019.
"FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality". U.S. Food and Drug Administration (FDA) (Press release). 24 May 2019. Retrieved 27 May 2019. This article incorporates text from this source, which is in the public domain.
"Zolgensma". U.S. Food and Drug Administration (FDA). 24 May 2019. Retrieved 8 August 2020.
"FDA Approves Oral Treatment for Spinal Muscular Atrophy". U.S. Food and Drug Administration (FDA) (Press release). 7 August 2020. Retrieved 7 August 2020.

accessdata.fda.gov

"Spinraza (nusinersen) Injection". U.S. Food and Drug Administration (FDA). 18 January 2017. Retrieved 8 August 2020.

gene.com

"Evrysdi (risdiplam) for oral solution" (PDF). Genentech. Retrieved 8 August 2020.

harvard.edu

ui.adsabs.harvard.edu

Brzustowicz, L. M.; Lehner, T.; Castilla, L. H.; Penchaszadeh, G. K.; Wilhelmsen, K. C.; Daniels, R.; Davies, K. E.; Leppert, M.; Ziter, F.; Wood, D.; Dubowitz, V.; Zerres, K.; Hausmanowa-Petrusewicz, I.; Ott, J.; Munsat, T. L.; Gilliam, T. C. (1990). "Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3". Nature. 344 (6266): 540–541. Bibcode:1990Natur.344..540B. doi:10.1038/344540a0. PMID 2320125.
Su, Y. N.; Hung, C. C.; Lin, S. Y.; Chen, F. Y.; Chern, J. P. S.; Tsai, C.; Chang, T. S.; Yang, C. C.; Li, H.; Ho, H. N.; Lee, C. N. (2011). Schrijver, Iris (ed.). "Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study". PLoS ONE. 6 (2): e17067. Bibcode:2011PLoSO...617067S. doi:10.1371/journal.pone.0017067. PMC 3045421. PMID 21364876.
Chang, J. -G.; Hsieh-Li, H. -M.; Jong, Y. -J.; Wang, N. M.; Tsai, C. -H.; Li, H. (2001). "Treatment of spinal muscular atrophy by sodium butyrate". Proceedings of the National Academy of Sciences. 98 (17): 9808–9813. Bibcode:2001PNAS...98.9808C. doi:10.1073/pnas.171105098.
Swoboda, K. J.; Scott, C. B.; Crawford, T. O.; Simard, L. R.; Reyna, S. P.; Krosschell, K. J.; Acsadi, G.; Elsheik, B.; Schroth, M. K.; d'Anjou, G.; Lasalle, B.; Prior, T. W.; Sorenson, S. L.; MacZulski, J. A.; Bromberg, M. B.; Chan, G. M.; Kissel, J. T.; Project Cure Spinal Muscular Atrophy Investigators Network (2010). Boutron, Isabelle (ed.). "SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy". PLoS ONE. 5 (8): e12140. Bibcode:2010PLoSO...512140S. doi:10.1371/journal.pone.0012140. PMC 2924376. PMID 20808854.
Kissel, J. T.; Scott, C. B.; Reyna, S. P.; Crawford, T. O.; Simard, L. R.; Krosschell, K. J.; Acsadi, G.; Elsheik, B.; Schroth, M. K.; d'Anjou, G.; Lasalle, B.; Prior, T. W.; Sorenson, S.; MacZulski, J. A.; Bromberg, M. B.; Chan, G. M.; Swoboda, K. J.; Project Cure Spinal Muscular Atrophy Investigators' Network (2011). Feany, Mel B. (ed.). "SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy". PLoS ONE. 6 (7): e21296. Bibcode:2011PLoSO...621296K. doi:10.1371/journal.pone.0021296. PMC 3130730. PMID 21754985.

medicines.org.uk

"Zolgensma 2 x 1013 vector genomes/mL solution for infusion". www.medicines.org.uk. Retrieved 8 August 2020.

medlineplus.gov

"Spinal muscular atrophy: MedlinePlus Genetics". medlineplus.gov (به انگلیسی). Retrieved 2020-10-24.

nhs.uk

"Spinal muscular atrophy". nhs.uk (به انگلیسی). 2017-10-23. Retrieved 2020-10-24.

nih.gov

pubmed.ncbi.nlm.nih.gov

Prior, Thomas W.; Leach, Meganne E.; Finanger, Erika (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Spinal Muscular Atrophy", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301526, retrieved 2020-10-25
Verhaart, Ingrid E. C.; Robertson, Agata; Leary, Rebecca; McMacken, Grace; König, Kirsten; Kirschner, Janbernd; Jones, Cynthia C.; Cook, Suzanne F.; Lochmüller, Hanns (July 2017). "A multi-source approach to determine SMA incidence and research ready population". Journal of Neurology (به انگلیسی). 264 (7): 1465–1473. doi:10.1007/s00415-017-8549-1. ISSN 0340-5354. PMC 5502065. PMID 28634652.
Main, M.; Kairon, H.; Mercuri, E.; Muntoni, F. (2003). "The Hammersmith Functional Motor Scale for Children with Spinal Muscular Atrophy: A Scale to Test Ability and Monitor Progress in Children with Limited Ambulation". European Journal of Paediatric Neurology. 7 (4): 155–159. doi:10.1016/S1090-3798(03)00060-6. PMID 12865054.
Krosschell, K. J.; Maczulski, J. A.; Crawford, T. O.; Scott, C.; Swoboda, K. J. (2006). "A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy". Neuromuscular Disorders. 16 (7): 417–426. doi:10.1016/j.nmd.2006.03.015. PMC 3260054. PMID 16750368.
O'Hagen, J. M.; Glanzman, A. M.; McDermott, M. P.; Ryan, P. A.; Flickinger, J.; Quigley, J.; Riley, S.; Sanborn, E.; Irvine, C.; Martens, W. B.; Annis, C.; Tawil, R.; Oskoui, M.; Darras, B. T.; Finkel, R. S.; De Vivo, D. C. (2007). "An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients". Neuromuscular Disorders. 17 (9–10): 693–697. doi:10.1016/j.nmd.2007.05.009. PMID 17658255.
Glanzman, A. M.; O'Hagen, J. M.; McDermott, M. P.; Martens, W. B.; Flickinger, J.; Riley, S.; Quigley, J.; Montes, J.; Dunaway, S.; Deng, L.; Chung, W. K.; Tawil, R.; Darras, B. T.; De Vivo, D. C.; Kaufmann, P.; Finkel, R. S.; Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR) (2011). "Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III". Journal of Child Neurology. 26 (12): 1499–1507. doi:10.1177/0883073811420294. PMID 21940700.
Dubowitz, V. (2009). "Ramblings in the history of spinal muscular atrophy". Neuromuscular Disorders. 19 (1): 69–73. doi:10.1016/j.nmd.2008.10.004. PMID 18951794.
Brzustowicz, L. M.; Lehner, T.; Castilla, L. H.; Penchaszadeh, G. K.; Wilhelmsen, K. C.; Daniels, R.; Davies, K. E.; Leppert, M.; Ziter, F.; Wood, D.; Dubowitz, V.; Zerres, K.; Hausmanowa-Petrusewicz, I.; Ott, J.; Munsat, T. L.; Gilliam, T. C. (1990). "Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3". Nature. 344 (6266): 540–541. Bibcode:1990Natur.344..540B. doi:10.1038/344540a0. PMID 2320125.
Jędrzejowska, M.; Milewski, M.; Zimowski, J.; Borkowska, J.; Kostera-Pruszczyk, A.; Sielska, D.; Jurek, M.; Hausmanowa-Petrusewicz, I. (2009). "Phenotype modifiers of spinal muscular atrophy: The number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease". Acta Biochimica Polonica. 56 (1): 103–108. PMID 19287802.
Su, Y. N.; Hung, C. C.; Lin, S. Y.; Chen, F. Y.; Chern, J. P. S.; Tsai, C.; Chang, T. S.; Yang, C. C.; Li, H.; Ho, H. N.; Lee, C. N. (2011). Schrijver, Iris (ed.). "Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study". PLoS ONE. 6 (2): e17067. Bibcode:2011PLoSO...617067S. doi:10.1371/journal.pone.0017067. PMC 3045421. PMID 21364876.
Sugarman, E. A.; Nagan, N.; Zhu, H.; Akmaev, V. R.; Zhou, Z.; Rohlfs, E. M.; Flynn, K.; Hendrickson, B. C.; Scholl, T.; Sirko-Osadsa, D. A.; Allitto, B. A. (2011). "Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of>72 400 specimens". European Journal of Human Genetics. 20 (1): 27–32. doi:10.1038/ejhg.2011.134. PMC 3234503. PMID 21811307.
Ottesen EW (January 2017). "ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy". Translational Neuroscience. 8 (1): 1–6. doi:10.1515/tnsci-2017-0001. PMC 5382937. PMID 28400976.
Little, S. E.; Janakiraman, V.; Kaimal, A.; Musci, T.; Ecker, J.; Caughey, A. B. (2010). "The cost-effectiveness of prenatal screening for spinal muscular atrophy". American Journal of Obstetrics and Gynecology. 202 (3): 253.2e1. doi:10.1016/j.ajog.2010.01.032. PMID 20207244.
Prior, T. W.; Professional Practice Guidelines Committee (2008). "Carrier screening for spinal muscular atrophy". Genetics in Medicine. 10 (11): 840–842. doi:10.1097/GIM.0b013e318188d069. PMC 3110347. PMID 18941424.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. (November 2017). "Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy". New England Journal of Medicine. 377 (18): 1723–32. doi:10.1056/NEJMoa1702752. PMID 29091570. S2CID 4771819.
Wadman, Renske I.; van der Pol, W. Ludo; Bosboom, Wendy Mj; Asselman, Fay-Lynn; van den Berg, Leonard H.; Iannaccone, Susan T.; Vrancken, Alexander Fje (1 June 2020). "Drug treatment for spinal muscular atrophy types II and III". The Cochrane Database of Systematic Reviews. 1: CD006282. doi:10.1002/14651858.CD006282.pub5. ISSN 1469-493X. PMC 6995983. PMID 32006461.
Zhao X, Feng Z, Ling KK, Mollin A, Sheedy J, Yeh S, et al. (May 2016). "Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy". Human Molecular Genetics. 25 (10): 1885–1899. doi:10.1093/hmg/ddw062. PMC 5062580. PMID 26931466.
Bach, J. R.; Niranjan, V.; Weaver, B. (2000). "Spinal Muscular Atrophy Type 1: A Noninvasive Respiratory Management Approach". Chest. 117 (4): 1100–1105. doi:10.1378/chest.117.4.1100. PMID 10767247.
Bach, J. R.; Saltstein, K.; Sinquee, D.; Weaver, B.; Komaroff, E. (2007). "Long-Term Survival in Werdnig–Hoffmann Disease". American Journal of Physical Medicine & Rehabilitation. 86 (5): 339–45 quiz 346–8, 379. doi:10.1097/PHM.0b013e31804a8505. PMID 17449977.
Messina, S.; Pane, M.; De Rose, P.; Vasta, I.; Sorleti, D.; Aloysius, A.; Sciarra, F.; Mangiola, F.; Kinali, M.; Bertini, E.; Mercuri, E. (2008). "Feeding problems and malnutrition in spinal muscular atrophy type II". Neuromuscular Disorders. 18 (5): 389–393. doi:10.1016/j.nmd.2008.02.008. PMID 18420410.
Chen, Y. S.; Shih, H. H.; Chen, T. H.; Kuo, C. H.; Jong, Y. J. (2011). "Prevalence and Risk Factors for Feeding and Swallowing Difficulties in Spinal Muscular Atrophy Types II and III". The Journal of Pediatrics. 160 (3): 447–451.e1. doi:10.1016/j.jpeds.2011.08.016. PMID 21924737.
Tilton, A.; Miller, M.; Khoshoo, V. (1998). "Nutrition and swallowing in pediatric neuromuscular patients". Seminars in Pediatric Neurology. 5 (2): 106–115. doi:10.1016/S1071-9091(98)80026-0. PMID 9661244.
Tein, I.; Sloane, A. E.; Donner, E. J.; Lehotay, D. C.; Millington, D. S.; Kelley, R. I. (1995). "Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: Primary or secondary defect(s)?". Pediatric neurology. 12 (1): 21–30. doi:10.1016/0887-8994(94)00100-G. PMID 7748356.
Crawford, T. O.; Sladky, J. T.; Hurko, O.; Besner-Johnston, A.; Kelley, R. I. (1999). "Abnormal fatty acid metabolism in childhood spinal muscular atrophy". Annals of Neurology. 45 (3): 337–343. doi:10.1002/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U. PMID 10072048.
Rudnik-Schoneborn, S.; Heller, R.; Berg, C.; Betzler, C.; Grimm, T.; Eggermann, T.; Eggermann, K.; Wirth, R.; Wirth, B.; Zerres, K. (2008). "Congenital heart disease is a feature of severe infantile spinal muscular atrophy". Journal of Medical Genetics. 45 (10): 635–638. doi:10.1136/jmg.2008.057950. PMID 18662980.
Heier, C. R.; Satta, R.; Lutz, C.; Didonato, C. J. (2010). "Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice". Human Molecular Genetics. 19 (20): 3906–3918. doi:10.1093/hmg/ddq330. PMC 2947406. PMID 20693262.
Shababi, M.; Habibi, J.; Yang, H. T.; Vale, S. M.; Sewell, W. A.; Lorson, C. L. (2010). "Cardiac defects contribute to the pathology of spinal muscular atrophy models". Human Molecular Genetics. 19 (20): 4059–4071. doi:10.1093/hmg/ddq329. PMID 20696672.
Bevan, A. K.; Hutchinson, K. R.; Foust, K. D.; Braun, L.; McGovern, V. L.; Schmelzer, L.; Ward, J. G.; Petruska, J. C.; Lucchesi, P. A.; Burghes, A. H. M.; Kaspar, B. K. (2010). "Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery". Human Molecular Genetics. 19 (20): 3895–3905. doi:10.1093/hmg/ddq300. PMC 2947399. PMID 20639395.
Von Gontard, A.; Zerres, K.; Backes, M.; Laufersweiler-Plass, C.; Wendland, C.; Melchers, P.; Lehmkuhl, G.; Rudnik-Schöneborn, S. (2002). "Intelligence and cognitive function in children and adolescents with spinal muscular atrophy". Neuromuscular Disorders. 12 (2): 130–136. doi:10.1016/S0960-8966(01)00274-7. PMID 11738354.
Billard, C.; Gillet, P.; Signoret, J. L.; Uicaut, E.; Bertrand, P.; Fardeau, M.; Barthez-Carpentier, M. A.; Santini, J. J. (1992). "Cognitive functions in duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy". Neuromuscular Disorders. 2 (5–6): 371–378. doi:10.1016/S0960-8966(06)80008-8. PMID 1300185.
De Oliveira, C. M.; Araújo, A. P. D. Q. C. (2011). "Self-reported quality of life has no correlation with functional status in children and adolescents with spinal muscular atrophy". European Journal of Paediatric Neurology. 15 (1): 36–39. doi:10.1016/j.ejpn.2010.07.003. PMID 20800519.
Yuan, N.; Wang, C. H.; Trela, A.; Albanese, C. T. (2007). "Laparoscopic Nissen Fundoplication During Gastrostomy Tube Placement and Noninvasive Ventilation May Improve Survival in Type I and Severe Type II Spinal Muscular Atrophy". Journal of Child Neurology. 22 (6): 727–731. doi:10.1177/0883073807304009. PMID 17641258.
Bach, J. R. (2007). "Medical Considerations of Long-Term Survival of Werdnig–Hoffmann Disease". American Journal of Physical Medicine & Rehabilitation. 86 (5): 349–55. doi:10.1097/PHM.0b013e31804b1d66. PMID 17449979.
Oskoui, M; Levy, G; Garland, C. J.; Gray, J. M.; O'Hagen, J; De Vivo, D. C.; Kaufmann, P (2007). "The changing natural history of spinal muscular atrophy type 1". Neurology. 69 (20): 1931–6. doi:10.1212/01.wnl.0000290830.40544.b9. PMID 17998484.
Lefebvre, Suzie; Bürglen, Lydie; Reboullet, Sophie; Clermont, Olivier; Burlet, Philippe; Viollet, Louis; Benichou, Bernard; Cruaud, Corinne; Millasseau, Philippe (1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–165. doi:10.1016/0092-8674(95)90460-3. PMID 7813012.
d’Ydewalle, Constantin; Sumner, Charlotte J. (2015-01-29). "Spinal Muscular Atrophy Therapeutics: Where do we Stand?". Neurotherapeutics (به انگلیسی). 12 (2): 303–316. doi:10.1007/s13311-015-0337-y. ISSN 1933-7213. PMC 4404440. PMID 25631888.
Benkhelifa-Ziyyat, Sofia; Besse, Aurore; Roda, Marianne; Duque, Sandra; Astord, Stéphanie; Carcenac, Romain; Marais, Thibaut; Barkats, Martine (2013). "Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice". Molecular Therapy. 21 (2): 282–290. doi:10.1038/mt.2012.261. PMC 3594018. PMID 23295949.
Zhang, M. L.; Lorson, C. L.; Androphy, E. J.; Zhou, J. (2001). "An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA". Gene Therapy. 8 (20): 1532–1538. doi:10.1038/sj.gt.3301550. PMID 11704813.
Andreassi, C.; Jarecki, J.; Zhou, J.; Coovert, D. D.; Monani, U. R.; Chen, X.; Whitney, M.; Pollok, B.; Zhang, M.; Androphy, E.; Burghes, A. H. (2001). "Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients". Human Molecular Genetics. 10 (24): 2841–2849. doi:10.1093/hmg/10.24.2841. PMID 11734549.
Zhou, Haiyan; Meng, Jinhong; Marrosu, Elena; Janghra, Narinder; Morgan, Jennifer; Muntoni, Francesco (2015). "Repeated low doses of morpholino antisense oligomer: An intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response". Human Molecular Genetics. 24 (22): 6265–77, 6265. doi:10.1093/hmg/ddv329. PMC 4614699. PMID 26264577.
Hammond, Suzan M.; Hazell, Gareth; Shabanpoor, Fazel; Saleh, Amer F.; Bowerman, Melissa; Sleigh, James N.; Meijboom, Katharina E.; Zhou, Haiyan; Muntoni, Francesco (2016-09-27). "Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy". Proceedings of the National Academy of Sciences (به انگلیسی). 113 (39): 10962–10967. doi:10.1073/pnas.1605731113. ISSN 0027-8424. PMC 5047168. PMID 27621445.
Angelozzi, C.; Borgo, F.; Tiziano, F. D.; Martella, A.; Neri, G.; Brahe, C. (2007). "Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells". Journal of Medical Genetics. 45 (1): 29–31. doi:10.1136/jmg.2007.051177. PMID 17932121.
Pane, M.; Staccioli, S.; Messina, S.; d'Amico, A.; Pelliccioni, M.; Mazzone, E. S.; Cuttini, M.; Alfieri, P.; Battini, R.; Main, M.; Muntoni, F.; Bertini, E.; Villanova, M.; Mercuri, E. (2008). "Daily salbutamol in young patients with SMA type II". Neuromuscular Disorders. 18 (7): 536–540. doi:10.1016/j.nmd.2008.05.004. PMID 18579379.
Tiziano, F. D.; Lomastro, R.; Pinto, A. M.; Messina, S.; d'Amico, A.; Fiori, S.; Angelozzi, C.; Pane, M.; Mercuri, E.; Bertini, E.; Neri, G.; Brahe, C. (2010). "Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: Relevance for clinical trial design". Journal of Medical Genetics. 47 (12): 856–858. doi:10.1136/jmg.2010.080366. PMID 20837492.
Andreassi, C.; Angelozzi, C.; Tiziano, F. D.; Vitali, T.; De Vincenzi, E.; Boninsegna, A.; Villanova, M.; Bertini, E.; Pini, A.; Neri, G.; Brahe, C. (2003). "Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy". European Journal of Human Genetics. 12 (1): 59–65. doi:10.1038/sj.ejhg.5201102. PMID 14560316.
Brahe, C.; Vitali, T.; Tiziano, F. D.; Angelozzi, C.; Pinto, A. M.; Borgo, F.; Moscato, U.; Bertini, E.; Mercuri, E.; Neri, G. (2004). "Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients". European Journal of Human Genetics. 13 (2): 256–259. doi:10.1038/sj.ejhg.5201320. PMID 15523494.
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, F. D.; Villanova, M.; Vita, G.; Brahe, C. (2007). "Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy". Neurology. 68 (1): 51–55. doi:10.1212/01.wnl.0000249142.82285.d6. PMID 17082463.
Brichta, L.; Hofmann, Y.; Hahnen, E.; Siebzehnrubl, F. A.; Raschke, H.; Blumcke, I.; Eyupoglu, I. Y.; Wirth, B. (2003). "Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy". Human Molecular Genetics. 12 (19): 2481–2489. doi:10.1093/hmg/ddg256. PMID 12915451.
Tsai, L. K.; Tsai, M. S.; Ting, C. H.; Li, H. (2008). "Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice". Journal of Molecular Medicine. 86 (11): 1243–1254. doi:10.1007/s00109-008-0388-1. PMID 18649067.
Swoboda, K. J.; Scott, C. B.; Crawford, T. O.; Simard, L. R.; Reyna, S. P.; Krosschell, K. J.; Acsadi, G.; Elsheik, B.; Schroth, M. K.; d'Anjou, G.; Lasalle, B.; Prior, T. W.; Sorenson, S. L.; MacZulski, J. A.; Bromberg, M. B.; Chan, G. M.; Kissel, J. T.; Project Cure Spinal Muscular Atrophy Investigators Network (2010). Boutron, Isabelle (ed.). "SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy". PLoS ONE. 5 (8): e12140. Bibcode:2010PLoSO...512140S. doi:10.1371/journal.pone.0012140. PMC 2924376. PMID 20808854.
Kissel, J. T.; Scott, C. B.; Reyna, S. P.; Crawford, T. O.; Simard, L. R.; Krosschell, K. J.; Acsadi, G.; Elsheik, B.; Schroth, M. K.; d'Anjou, G.; Lasalle, B.; Prior, T. W.; Sorenson, S.; MacZulski, J. A.; Bromberg, M. B.; Chan, G. M.; Swoboda, K. J.; Project Cure Spinal Muscular Atrophy Investigators' Network (2011). Feany, Mel B. (ed.). "SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy". PLoS ONE. 6 (7): e21296. Bibcode:2011PLoSO...621296K. doi:10.1371/journal.pone.0021296. PMC 3130730. PMID 21754985.
Darbar, I. A.; Plaggert, P. G.; Resende, M. B. D.; Zanoteli, E.; Reed, U. C. (2011). "Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid". BMC Neurology. 11: 36. doi:10.1186/1471-2377-11-36. PMC 3078847. PMID 21435220.
Garbes, L.; Heesen, L.; Holker, I.; Bauer, T.; Schreml, J.; Zimmermann, K.; Thoenes, M.; Walter, M.; Dimos, J.; Peitz, M.; Brustle, O.; Heller, R.; Wirth, B. (2012). "VPA response in SMA is suppressed by the fatty acid translocase CD36". Human Molecular Genetics. 22 (2): 398–407. doi:10.1093/hmg/dds437. PMID 23077215.
Rak, K.; Lechner, B. D.; Schneider, C.; Drexl, H.; Sendtner, M.; Jablonka, S. (2009). "Valproic acid blocks excitability in SMA type I mouse motor neurons". Neurobiology of Disease. 36 (3): 477–487. doi:10.1016/j.nbd.2009.08.014. PMID 19733665.
Grzeschik, S. M.; Ganta, M.; Prior, T. W.; Heavlin, W. D.; Wang, C. H. (2010). "Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells". Annals of Neurology. 58 (2): 194–202. doi:10.1002/ana.20548. PMID 16049920.
Chen, T. - H.; Chang, J. - G.; Yang, Y. - H.; Mai, H. - H.; Liang, W. - C.; Wu, Y. - C.; Wang, H. - Y.; Huang, Y. - B.; Wu, S. - M.; Chen, Y. - C.; Yang, S. - N.; Jong, Y. - J. (2010). "Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy". Neurology. 75 (24): 2190–2197. doi:10.1212/WNL.0b013e3182020332. PMID 21172842.
Evans, M. C.; Cherry, J. J.; Androphy, E. J. (2011). "Differential regulation of the SMN2 gene by individual HDAC proteins". Biochemical and Biophysical Research Communications. 414 (1): 25–30. doi:10.1016/j.bbrc.2011.09.011. PMID 21925145.
Riessland, M.; Brichta, L.; Hahnen, E.; Wirth, B. (2006). "The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells". Human Genetics. 120 (1): 101–110. doi:10.1007/s00439-006-0186-1. PMID 16724231.
Garbes, L.; Riessland, M.; Hölker, I.; Heller, R.; Hauke, J.; Tränkle, C.; Coras, R.; Blümcke, I.; Hahnen, E.; Wirth, B. (2009). "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". Human Molecular Genetics. 18 (19): 3645–3658. doi:10.1093/hmg/ddp313. PMID 19584083.
Narver, H. L.; Kong, L.; Burnett, B. G.; Choe, D. W.; Bosch-Marcé, M.; Taye, A. A.; Eckhaus, M. A.; Sumner, C. J. (2008). "Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition". Annals of Neurology. 64 (4): 465–470. doi:10.1002/ana.21449. PMID 18661558.
Avila, A. M.; Burnett, B. G.; Taye, A. A.; Gabanella, F.; Knight, M. A.; Hartenstein, P.; Cizman, Z.; Di Prospero, N. A.; Pellizzoni, L.; Fischbeck, K. H.; Sumner, C. J. (2007). "Trichostatin a increases SMN expression and survival in a mouse model of spinal muscular atrophy". Journal of Clinical Investigation. 117 (3): 659–671. doi:10.1172/JCI29562. PMC 1797603. PMID 17318264.
Riessland, M.; Ackermann, B.; Förster, A.; Jakubik, M.; Hauke, J.; Garbes, L.; Fritzsche, I.; Mende, Y.; Blumcke, I.; Hahnen, E.; Wirth, B. (2010). "SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy". Human Molecular Genetics. 19 (8): 1492–1506. doi:10.1093/hmg/ddq023. PMID 20097677.
Farooq, F.; Molina, F. A. A.; Hadwen, J.; MacKenzie, D.; Witherspoon, L.; Osmond, M.; Holcik, M.; MacKenzie, A. (2011). "Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway". Journal of Clinical Investigation. 121 (8): 3042–3050. doi:10.1172/JCI46276. PMC 3148738. PMID 21785216.
Sakla, M. S.; Lorson, C. L. (2007). "Induction of full-length survival motor neuron by polyphenol botanical compounds". Human Genetics. 122 (6): 635–643. doi:10.1007/s00439-007-0441-0. PMID 17962980.
Farooq, F.; Abadia-Molina, F.; MacKenzie, D.; Hadwen, J.; Shamim, F.; O'Reilly, S.; Holcik, M.; MacKenzie, A. (2013). "Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation". Human Molecular Genetics. 22 (17): 3415–3424. doi:10.1093/hmg/ddt191. PMID 23656793.
Burnett, B. G.; Munoz, E.; Tandon, A.; Kwon, D. Y.; Sumner, C. J.; Fischbeck, K. H. (2008). "Regulation of SMN Protein Stability". Molecular and Cellular Biology. 29 (5): 1107–1115. doi:10.1128/MCB.01262-08. PMC 2643817. PMID 19103745.
Mattis, V. B.; Rai, R.; Wang, J.; Chang, C. W. T.; Coady, T.; Lorson, C. L. (2006). "Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts". Human Genetics. 120 (4): 589–601. doi:10.1007/s00439-006-0245-7. PMID 16951947.
Mattis, V. B.; Fosso, M. Y.; Chang, C. W.; Lorson, C. L. (2009). "Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA". BMC Neuroscience. 10: 142. doi:10.1186/1471-2202-10-142. PMC 2789732. PMID 19948047.
Lunn, M. R.; Root, D. E.; Martino, A. M.; Flaherty, S. P.; Kelley, B. P.; Coovert, D. D.; Burghes, A. H.; Thi Man, N.; Morris, G. E.; Zhou, J.; Androphy, E. J.; Sumner, C. J.; Stockwell, B. R. (2004). "Indoprofen Upregulates the Survival Motor Neuron Protein through a Cyclooxygenase-Independent Mechanism". Chemistry & Biology. 11 (11): 1489–1493. doi:10.1016/j.chembiol.2004.08.024. PMC 3160629. PMID 15555999.
Takeuchi, Y.; Miyanomae, Y.; Komatsu, H.; Oomizono, Y.; Nishimura, A.; Okano, S.; Nishiki, T.; Sawada, T. (1994). "Efficacy of Thyrotropin-Releasing Hormone in the Treatment of Spinal Muscular Atrophy". Journal of Child Neurology. 9 (3): 287–289. doi:10.1177/088307389400900313. PMID 7930408.
Tzeng, A. C.; Cheng, J.; Fryczynski, H.; Niranjan, V.; Stitik, T.; Sial, A.; Takeuchi, Y.; Foye, P.; Deprince, M.; Bach, J. R. (2000). "A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: A preliminary report". American Journal of Physical Medicine & Rehabilitation. 79 (5): 435–440. doi:10.1097/00002060-200009000-00005. PMID 10994885.
Kato, Z.; Okuda, M.; Okumura, Y.; Arai, T.; Teramoto, T.; Nishimura, M.; Kaneko, H.; Kondo, N. (2009). "Oral Administration of the Thyrotropin-Releasing Hormone (TRH) Analogue, Taltireline Hydrate, in Spinal Muscular Atrophy". Journal of Child Neurology. 24 (8): 1010–1012. doi:10.1177/0883073809333535. PMID 19666885.
Dimitriadi, M.; Kye, M. J.; Kalloo, G.; Yersak, J. M.; Sahin, M.; Hart, A. C. (2013). "The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models". Journal of Neuroscience. 33 (15): 6557–62, p. 6557. doi:10.1523/JNEUROSCI.1536-12.2013. PMC 3652322. PMID 23575853.
Nizzardo, M.; Nardini, M.; Ronchi, D.; Salani, S.; Donadoni, C.; Fortunato, F.; Colciago, G.; Falcone, M.; Simone, C.; Riboldi, G.; Govoni, A.; Bresolin, N.; Comi, G. P.; Corti, S. (2011). "Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms". Experimental Neurology. 229 (2): 214–225. doi:10.1016/j.expneurol.2011.01.017. PMID 21295027.
Hedlund, E. (2011). "The protective effects of beta-lactam antibiotics in motor neuron disorders". Experimental Neurology. 231 (1): 14–18. doi:10.1016/j.expneurol.2011.06.002. PMID 21693120.
Rose, F. F.; Mattis, V. B.; Rindt, H.; Lorson, C. L. (2009). "Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy". Human Molecular Genetics. 18 (6): 997–1005. doi:10.1093/hmg/ddn426. PMC 2649020. PMID 19074460.
Committee for Advanced Therapies CAT Scientific Secretariat. (2010). "Use of unregulated stem-cell based medicinal products". The Lancet. 376 (9740): 514. doi:10.1016/S0140-6736(10)61249-4. PMID 20709228.

ncbi.nlm.nih.gov

Prior, Thomas W.; Leach, Meganne E.; Finanger, Erika (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Spinal Muscular Atrophy", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301526, retrieved 2020-10-25
Verhaart, Ingrid E. C.; Robertson, Agata; Leary, Rebecca; McMacken, Grace; König, Kirsten; Kirschner, Janbernd; Jones, Cynthia C.; Cook, Suzanne F.; Lochmüller, Hanns (July 2017). "A multi-source approach to determine SMA incidence and research ready population". Journal of Neurology (به انگلیسی). 264 (7): 1465–1473. doi:10.1007/s00415-017-8549-1. ISSN 0340-5354. PMC 5502065. PMID 28634652.
Krosschell, K. J.; Maczulski, J. A.; Crawford, T. O.; Scott, C.; Swoboda, K. J. (2006). "A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy". Neuromuscular Disorders. 16 (7): 417–426. doi:10.1016/j.nmd.2006.03.015. PMC 3260054. PMID 16750368.
Su, Y. N.; Hung, C. C.; Lin, S. Y.; Chen, F. Y.; Chern, J. P. S.; Tsai, C.; Chang, T. S.; Yang, C. C.; Li, H.; Ho, H. N.; Lee, C. N. (2011). Schrijver, Iris (ed.). "Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study". PLoS ONE. 6 (2): e17067. Bibcode:2011PLoSO...617067S. doi:10.1371/journal.pone.0017067. PMC 3045421. PMID 21364876.
Sugarman, E. A.; Nagan, N.; Zhu, H.; Akmaev, V. R.; Zhou, Z.; Rohlfs, E. M.; Flynn, K.; Hendrickson, B. C.; Scholl, T.; Sirko-Osadsa, D. A.; Allitto, B. A. (2011). "Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of>72 400 specimens". European Journal of Human Genetics. 20 (1): 27–32. doi:10.1038/ejhg.2011.134. PMC 3234503. PMID 21811307.
Ottesen EW (January 2017). "ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy". Translational Neuroscience. 8 (1): 1–6. doi:10.1515/tnsci-2017-0001. PMC 5382937. PMID 28400976.
Prior, T. W.; Professional Practice Guidelines Committee (2008). "Carrier screening for spinal muscular atrophy". Genetics in Medicine. 10 (11): 840–842. doi:10.1097/GIM.0b013e318188d069. PMC 3110347. PMID 18941424.
Wadman, Renske I.; van der Pol, W. Ludo; Bosboom, Wendy Mj; Asselman, Fay-Lynn; van den Berg, Leonard H.; Iannaccone, Susan T.; Vrancken, Alexander Fje (1 June 2020). "Drug treatment for spinal muscular atrophy types II and III". The Cochrane Database of Systematic Reviews. 1: CD006282. doi:10.1002/14651858.CD006282.pub5. ISSN 1469-493X. PMC 6995983. PMID 32006461.
Zhao X, Feng Z, Ling KK, Mollin A, Sheedy J, Yeh S, et al. (May 2016). "Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy". Human Molecular Genetics. 25 (10): 1885–1899. doi:10.1093/hmg/ddw062. PMC 5062580. PMID 26931466.
Heier, C. R.; Satta, R.; Lutz, C.; Didonato, C. J. (2010). "Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice". Human Molecular Genetics. 19 (20): 3906–3918. doi:10.1093/hmg/ddq330. PMC 2947406. PMID 20693262.
Bevan, A. K.; Hutchinson, K. R.; Foust, K. D.; Braun, L.; McGovern, V. L.; Schmelzer, L.; Ward, J. G.; Petruska, J. C.; Lucchesi, P. A.; Burghes, A. H. M.; Kaspar, B. K. (2010). "Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery". Human Molecular Genetics. 19 (20): 3895–3905. doi:10.1093/hmg/ddq300. PMC 2947399. PMID 20639395.
d’Ydewalle, Constantin; Sumner, Charlotte J. (2015-01-29). "Spinal Muscular Atrophy Therapeutics: Where do we Stand?". Neurotherapeutics (به انگلیسی). 12 (2): 303–316. doi:10.1007/s13311-015-0337-y. ISSN 1933-7213. PMC 4404440. PMID 25631888.
Benkhelifa-Ziyyat, Sofia; Besse, Aurore; Roda, Marianne; Duque, Sandra; Astord, Stéphanie; Carcenac, Romain; Marais, Thibaut; Barkats, Martine (2013). "Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice". Molecular Therapy. 21 (2): 282–290. doi:10.1038/mt.2012.261. PMC 3594018. PMID 23295949.
Zhou, Haiyan; Meng, Jinhong; Marrosu, Elena; Janghra, Narinder; Morgan, Jennifer; Muntoni, Francesco (2015). "Repeated low doses of morpholino antisense oligomer: An intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response". Human Molecular Genetics. 24 (22): 6265–77, 6265. doi:10.1093/hmg/ddv329. PMC 4614699. PMID 26264577.
Hammond, Suzan M.; Hazell, Gareth; Shabanpoor, Fazel; Saleh, Amer F.; Bowerman, Melissa; Sleigh, James N.; Meijboom, Katharina E.; Zhou, Haiyan; Muntoni, Francesco (2016-09-27). "Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy". Proceedings of the National Academy of Sciences (به انگلیسی). 113 (39): 10962–10967. doi:10.1073/pnas.1605731113. ISSN 0027-8424. PMC 5047168. PMID 27621445.
Swoboda, K. J.; Scott, C. B.; Crawford, T. O.; Simard, L. R.; Reyna, S. P.; Krosschell, K. J.; Acsadi, G.; Elsheik, B.; Schroth, M. K.; d'Anjou, G.; Lasalle, B.; Prior, T. W.; Sorenson, S. L.; MacZulski, J. A.; Bromberg, M. B.; Chan, G. M.; Kissel, J. T.; Project Cure Spinal Muscular Atrophy Investigators Network (2010). Boutron, Isabelle (ed.). "SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy". PLoS ONE. 5 (8): e12140. Bibcode:2010PLoSO...512140S. doi:10.1371/journal.pone.0012140. PMC 2924376. PMID 20808854.
Kissel, J. T.; Scott, C. B.; Reyna, S. P.; Crawford, T. O.; Simard, L. R.; Krosschell, K. J.; Acsadi, G.; Elsheik, B.; Schroth, M. K.; d'Anjou, G.; Lasalle, B.; Prior, T. W.; Sorenson, S.; MacZulski, J. A.; Bromberg, M. B.; Chan, G. M.; Swoboda, K. J.; Project Cure Spinal Muscular Atrophy Investigators' Network (2011). Feany, Mel B. (ed.). "SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy". PLoS ONE. 6 (7): e21296. Bibcode:2011PLoSO...621296K. doi:10.1371/journal.pone.0021296. PMC 3130730. PMID 21754985.
Darbar, I. A.; Plaggert, P. G.; Resende, M. B. D.; Zanoteli, E.; Reed, U. C. (2011). "Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid". BMC Neurology. 11: 36. doi:10.1186/1471-2377-11-36. PMC 3078847. PMID 21435220.
Avila, A. M.; Burnett, B. G.; Taye, A. A.; Gabanella, F.; Knight, M. A.; Hartenstein, P.; Cizman, Z.; Di Prospero, N. A.; Pellizzoni, L.; Fischbeck, K. H.; Sumner, C. J. (2007). "Trichostatin a increases SMN expression and survival in a mouse model of spinal muscular atrophy". Journal of Clinical Investigation. 117 (3): 659–671. doi:10.1172/JCI29562. PMC 1797603. PMID 17318264.
Farooq, F.; Molina, F. A. A.; Hadwen, J.; MacKenzie, D.; Witherspoon, L.; Osmond, M.; Holcik, M.; MacKenzie, A. (2011). "Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway". Journal of Clinical Investigation. 121 (8): 3042–3050. doi:10.1172/JCI46276. PMC 3148738. PMID 21785216.
Burnett, B. G.; Munoz, E.; Tandon, A.; Kwon, D. Y.; Sumner, C. J.; Fischbeck, K. H. (2008). "Regulation of SMN Protein Stability". Molecular and Cellular Biology. 29 (5): 1107–1115. doi:10.1128/MCB.01262-08. PMC 2643817. PMID 19103745.
Mattis, V. B.; Fosso, M. Y.; Chang, C. W.; Lorson, C. L. (2009). "Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA". BMC Neuroscience. 10: 142. doi:10.1186/1471-2202-10-142. PMC 2789732. PMID 19948047.
Lunn, M. R.; Root, D. E.; Martino, A. M.; Flaherty, S. P.; Kelley, B. P.; Coovert, D. D.; Burghes, A. H.; Thi Man, N.; Morris, G. E.; Zhou, J.; Androphy, E. J.; Sumner, C. J.; Stockwell, B. R. (2004). "Indoprofen Upregulates the Survival Motor Neuron Protein through a Cyclooxygenase-Independent Mechanism". Chemistry & Biology. 11 (11): 1489–1493. doi:10.1016/j.chembiol.2004.08.024. PMC 3160629. PMID 15555999.
Dimitriadi, M.; Kye, M. J.; Kalloo, G.; Yersak, J. M.; Sahin, M.; Hart, A. C. (2013). "The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models". Journal of Neuroscience. 33 (15): 6557–62, p. 6557. doi:10.1523/JNEUROSCI.1536-12.2013. PMC 3652322. PMID 23575853.
Rose, F. F.; Mattis, V. B.; Rindt, H.; Lorson, C. L. (2009). "Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy". Human Molecular Genetics. 18 (6): 997–1005. doi:10.1093/hmg/ddn426. PMC 2649020. PMID 19074460.

dailymed.nlm.nih.gov

"Spinraza- nusinersen injection, solution". DailyMed. 30 June 2020. Retrieved 8 August 2020.
"Zolgensma- onasemnogene abeparvovec-xioi kit". DailyMed. 24 May 2019. Retrieved 8 August 2020.

ninds.nih.gov

"Spinal Muscular Atrophy Fact Sheet | National Institute of Neurological Disorders and Stroke". NINDS. Retrieved 27 May 2019.

ghr.nlm.nih.gov

"Spinal muscular atrophy". Genetics Home Reference (به انگلیسی). Retrieved 27 May 2019.

rarediseases.info.nih.gov

"Spinal muscular atrophy". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 27 May 2019.

novartis.com

"Novartis receives approval from Japanese Ministry of Health, Labour and Welfare for Zolgensma the only gene therapy for patients with spinal muscular atrophy (SMA)". Novartis (Press release). Retrieved 8 August 2020.

pnas.org

Hammond, Suzan M.; Hazell, Gareth; Shabanpoor, Fazel; Saleh, Amer F.; Bowerman, Melissa; Sleigh, James N.; Meijboom, Katharina E.; Zhou, Haiyan; Muntoni, Francesco (2016-09-27). "Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy". Proceedings of the National Academy of Sciences (به انگلیسی). 113 (39): 10962–10967. doi:10.1073/pnas.1605731113. ISSN 0027-8424. PMC 5047168. PMID 27621445.

rarediseases.org

"Spinal Muscular Atrophy". NORD (National Organization for Rare Disorders). Retrieved 27 May 2019.

semanticscholar.org

api.semanticscholar.org

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. (November 2017). "Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy". New England Journal of Medicine. 377 (18): 1723–32. doi:10.1056/NEJMoa1702752. PMID 29091570. S2CID 4771819.

smanewstoday.com

Maria Joao Almeida (2016-09-08). "RG7916". BioNews Services. Retrieved 2017-10-08.

springer.com

link.springer.com

Verhaart, Ingrid E. C.; Robertson, Agata; Leary, Rebecca; McMacken, Grace; König, Kirsten; Kirschner, Janbernd; Jones, Cynthia C.; Cook, Suzanne F.; Lochmüller, Hanns (July 2017). "A multi-source approach to determine SMA incidence and research ready population". Journal of Neurology (به انگلیسی). 264 (7): 1465–1473. doi:10.1007/s00415-017-8549-1. ISSN 0340-5354. PMC 5502065. PMID 28634652.
d’Ydewalle, Constantin; Sumner, Charlotte J. (2015-01-29). "Spinal Muscular Atrophy Therapeutics: Where do we Stand?". Neurotherapeutics (به انگلیسی). 12 (2): 303–316. doi:10.1007/s13311-015-0337-y. ISSN 1933-7213. PMC 4404440. PMID 25631888.

ucl.ac.uk

discovery.ucl.ac.uk

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. (November 2017). "Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy". New England Journal of Medicine. 377 (18): 1723–32. doi:10.1056/NEJMoa1702752. PMID 29091570. S2CID 4771819.

uptodate.com

Bodamer, olaf (November 2017). "Spinal Muscular Atrophy". uptodate.com. Retrieved December 1, 2017.

web.archive.org

Apkon, Susan (Summer 2017). "SMA CARE SERIES - Musculoskeletal System" (PDF). www.curesma.org. Archived from the original (PDF) on 19 February 2018.
"Biogen Releases Community Statement on Spinraza Access and New Data | Cure SMA". www.curesma.org. Archived from the original on 19 July 2019. Retrieved 2018-09-11.
"Novartis Releases Update on LMI070 (Branaplam) Clinical Trial". CureSMA. Archived from the original on 25 November 2017. Retrieved 2017-10-07.
"Riluzole: premiers résultats décevants" (به فرانسوی). AFM Téléthon. 2010-09-22. Archived from the original on 8 December 2017. Retrieved 8 December 2017.
"CK-2127107". Archived from the original on 11 May 2017. Retrieved 8 December 2017.
European Medicines Agency (16 April 2010). "Concerns over unregulated medicinal products containing stem cells" (PDF). European Medicines Agency. Archived from the original (PDF) on 28 December 2013. Retrieved 8 December 2017.

worldcat.org

Verhaart, Ingrid E. C.; Robertson, Agata; Leary, Rebecca; McMacken, Grace; König, Kirsten; Kirschner, Janbernd; Jones, Cynthia C.; Cook, Suzanne F.; Lochmüller, Hanns (July 2017). "A multi-source approach to determine SMA incidence and research ready population". Journal of Neurology (به انگلیسی). 264 (7): 1465–1473. doi:10.1007/s00415-017-8549-1. ISSN 0340-5354. PMC 5502065. PMID 28634652.
Grant, Charley (2016-12-27). "Surprise Drug Approval Is Holiday Gift for Biogen". The Wall Street Journal. ISSN 0099-9660. Retrieved 2016-12-27.
Wadman, Renske I.; van der Pol, W. Ludo; Bosboom, Wendy Mj; Asselman, Fay-Lynn; van den Berg, Leonard H.; Iannaccone, Susan T.; Vrancken, Alexander Fje (1 June 2020). "Drug treatment for spinal muscular atrophy types II and III". The Cochrane Database of Systematic Reviews. 1: CD006282. doi:10.1002/14651858.CD006282.pub5. ISSN 1469-493X. PMC 6995983. PMID 32006461.
Grant, Charley (2016-12-27). "Surprise Drug Approval Is Holiday Gift for Biogen". Wall Street Journal. ISSN 0099-9660. Retrieved 2016-12-27.
d’Ydewalle, Constantin; Sumner, Charlotte J. (2015-01-29). "Spinal Muscular Atrophy Therapeutics: Where do we Stand?". Neurotherapeutics (به انگلیسی). 12 (2): 303–316. doi:10.1007/s13311-015-0337-y. ISSN 1933-7213. PMC 4404440. PMID 25631888.
"$2.1m Novartis gene therapy to become world's most expensive drug". The Guardian. Reuters. 2019-05-25. ISSN 0261-3077.
Hammond, Suzan M.; Hazell, Gareth; Shabanpoor, Fazel; Saleh, Amer F.; Bowerman, Melissa; Sleigh, James N.; Meijboom, Katharina E.; Zhou, Haiyan; Muntoni, Francesco (2016-09-27). "Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy". Proceedings of the National Academy of Sciences (به انگلیسی). 113 (39): 10962–10967. doi:10.1073/pnas.1605731113. ISSN 0027-8424. PMC 5047168. PMID 27621445.

wsj.com

Grant, Charley (2016-12-27). "Surprise Drug Approval Is Holiday Gift for Biogen". The Wall Street Journal. ISSN 0099-9660. Retrieved 2016-12-27.
Grant, Charley (2016-12-27). "Surprise Drug Approval Is Holiday Gift for Biogen". Wall Street Journal. ISSN 0099-9660. Retrieved 2016-12-27.