TY - JOUR AU - Lunn, M. R. AU - Wang, C. H. PY - 2008 DA - 2008// TI - Spinal muscular atrophy JO - Lancet VL - 371 UR - https://doi.org/10.1016/S0140-6736(08)60921-6 DO - 10.1016/S0140-6736(08)60921-6 ID - Lunn2008 ER - TY - STD TI - Spinal muscular atrophy. GeneReviews®. http://www.ncbi.nlm.nih.gov/books/NBK1352/. Accessed 24 Aug 2017. UR - http://www.ncbi.nlm.nih.gov/books/NBK1352 ID - ref2 ER - TY - STD TI - Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A. 1999;96(11):6307–11. ID - ref3 ER - TY - JOUR AU - Lefebvre, S. AU - Burglen, L. AU - Reboullet, S. AU - Clermont, O. AU - Burlet, P. AU - Viollet, L. AU - Benichou, B. AU - Cruaud, C. AU - Millasseau, P. AU - Zeviani, M. PY - 1995 DA - 1995// TI - Identification and characterization of a spinal muscular atrophy-determining gene JO - Cell VL - 80 UR - https://doi.org/10.1016/0092-8674(95)90460-3 DO - 10.1016/0092-8674(95)90460-3 ID - Lefebvre1995 ER - TY - JOUR AU - Feldkötter, M. AU - Schwarzer, V. AU - Wirth, R. AU - Wienker, T. F. AU - Wirth, B. PY - 2002 DA - 2002// TI - Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy JO - Am J Hum Genet VL - 70 UR - https://doi.org/10.1086/338627 DO - 10.1086/338627 ID - Feldkötter2002 ER - TY - JOUR AU - Kolb, S. J. AU - Kissel, J. T. PY - 2015 DA - 2015// TI - Spinal muscular atrophy JO - Neurol Clin VL - 33 UR - https://doi.org/10.1016/j.ncl.2015.07.004 DO - 10.1016/j.ncl.2015.07.004 ID - Kolb2015 ER - TY - JOUR AU - Wang, C. H. AU - Finkel, R. S. AU - Bertini, E. S. AU - Schroth, M. AU - Simonds, A. AU - Wong, B. AU - Aloysius, A. AU - Morrison, L. AU - Main, M. AU - Crawford, T. O. PY - 2007 DA - 2007// TI - Consensus statement for standard of care in spinal muscular atrophy JO - J Child Neurol VL - 22 UR - https://doi.org/10.1177/0883073807305788 DO - 10.1177/0883073807305788 ID - Wang2007 ER - TY - STD TI - Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015;62(3):743–66. ID - ref8 ER - TY - JOUR AU - Finkel, R. S. AU - McDermott, M. P. AU - Kaufmann, P. AU - Darras, B. T. AU - Chung, W. K. AU - Sproule, D. M. AU - Kang, P. B. AU - Foley, A. R. AU - Yang, M. L. AU - Martens, W. B. PY - 2014 DA - 2014// TI - Observational study of spinal muscular atrophy type I and implications for clinical trials JO - Neurology VL - 83 UR - https://doi.org/10.1212/WNL.0000000000000741 DO - 10.1212/WNL.0000000000000741 ID - Finkel2014 ER - TY - JOUR AU - Markowitz, J. A. AU - Singh, P. AU - Darras, B. T. PY - 2012 DA - 2012// TI - Spinal muscular atrophy: a clinical and research update JO - Pediatr Neurol VL - 46 UR - https://doi.org/10.1016/j.pediatrneurol.2011.09.001 DO - 10.1016/j.pediatrneurol.2011.09.001 ID - Markowitz2012 ER - TY - STD TI - Lally C, Jones CC, Cook SF, Farwell W, Staropoli J, Flanders WD. Genetic causes of death in US infants: findings from the National Center for health Statisitcs. Presented at: The 67th annual meeting of the American Society of Human Genetics. Orlando; 2017. ID - ref11 ER - TY - STD TI - Finkel R, Chiriboga C, Vasjar J, Day J, Montes J, De Vivo DC, Yamashita M, Rigo F, Hung G, Schneider E et al. Interim results of a phase 2 clinical study of nusinersen (ISIS-SMNRx) in patients with infantile-onset spinal muscular atrophy.Presented at: 2016 Annual SMA Researcher Meeting: 16–19 June 2016; Anaheim; 2016:53. ID - ref12 ER - TY - STD TI - Spinraza [prescribing Information]. Cambridge: Biogen; 2017. https://www.spinraza.com/content/dam/commercial/specialty/spinraza/caregiver/en_us/pdf/spinrazaprescribing-information.pdf. Accessed 24 July 2017. UR - https://www.spinraza.com/content/dam/commercial/specialty/spinraza/caregiver/en_us/pdf/spinrazaprescribing-information.pdf ID - ref13 ER - TY - STD TI - Hickman M, Taylor C: Indirect methods to estimate prevalence. Epidemiology of drug abuse. Sloboda Z, ed. Boston: Springer; 2005:113–131. ID - ref14 ER - TY - JOUR AU - Verhaart, I. E. C. AU - Robertson, A. AU - Wilson, I. J. AU - Aartsma-Rus, A. AU - Cameron, S. AU - Jones, C. C. AU - Cook, S. F. AU - Lochmuller, H. PY - 2017 DA - 2017// TI - Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review JO - Orphanet J Rare Dis VL - 12 UR - https://doi.org/10.1186/s13023-017-0671-8 DO - 10.1186/s13023-017-0671-8 ID - Verhaart2017 ER - TY - JOUR AU - Arkblad, E. AU - Tulinius, M. AU - Kroksmark, A. K. AU - Henricsson, M. AU - Darin, N. PY - 2009 DA - 2009// TI - A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy JO - Acta Paediatr VL - 98 UR - https://doi.org/10.1111/j.1651-2227.2008.01201.x DO - 10.1111/j.1651-2227.2008.01201.x ID - Arkblad2009 ER - TY - JOUR AU - Tassie, B. AU - Isaacs, D. AU - Kilham, H. AU - Kerridge, I. PY - 2013 DA - 2013// TI - Management of children with spinal muscular atrophy type 1 in Australia JO - J Paediatr Child Health VL - 49 UR - https://doi.org/10.1111/jpc.12291 DO - 10.1111/jpc.12291 ID - Tassie2013 ER - TY - JOUR AU - Hendrickson, B. C. AU - Donohoe, C. AU - Akmaev, V. R. AU - Sugarman, E. A. AU - Labrousse, P. AU - Boguslavskiy, L. AU - Flynn, K. AU - Rohlfs, E. M. AU - Walker, A. AU - Allitto, B. PY - 2009 DA - 2009// TI - Differences in SMN1 allele frequencies among ethnic groups within North America JO - J Med Genet VL - 46 UR - https://doi.org/10.1136/jmg.2009.066969 DO - 10.1136/jmg.2009.066969 ID - Hendrickson2009 ER - TY - JOUR AU - Sugarman, E. A. AU - Nagan, N. AU - Zhu, H. AU - Akmaev, V. R. AU - Zhou, Z. AU - Rohlfs, E. M. AU - Flynn, K. AU - Hendrickson, B. C. AU - Scholl, T. AU - Sirko-Osadsa, D. A. PY - 2012 DA - 2012// TI - Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens JO - Eur J Hum Genet VL - 20 UR - https://doi.org/10.1038/ejhg.2011.134 DO - 10.1038/ejhg.2011.134 ID - Sugarman2012 ER - TY - JOUR AU - Oskoui, M. AU - Ng, P. AU - Liben, S. AU - Zielinski, D. PY - 2017 DA - 2017// TI - Physician driven variation in the care of children with spinal muscular atrophy type 1 JO - Pediatr Pulmonol VL - 52 UR - https://doi.org/10.1002/ppul.23616 DO - 10.1002/ppul.23616 ID - Oskoui2017 ER - TY - JOUR AU - Roper, H. AU - Quinlivan, R. PY - 2010 DA - 2010// TI - Implementation of "the consensus statement for the standard of care in spinal muscular atrophy" when applied to infants with severe type 1 SMA in the UK JO - Arch Dis Child VL - 95 UR - https://doi.org/10.1136/adc.2009.166512 DO - 10.1136/adc.2009.166512 ID - Roper2010 ER - TY - JOUR AU - Benson, R. C. AU - Hardy, K. A. AU - Gildengorin, G. AU - Hsia, D. PY - 2012 DA - 2012// TI - International survey of physician recommendation for tracheostomy for spinal muscular atrophy type I JO - Pediatr Pulmonol VL - 47 UR - https://doi.org/10.1002/ppul.21617 DO - 10.1002/ppul.21617 ID - Benson2012 ER - TY - STD TI - Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, et al. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol. 2014;261(1):152–63. ID - ref23 ER - TY - JOUR AU - Ogino, S. AU - Wilson, R. B. PY - 2004 DA - 2004// TI - Spinal muscular atrophy: molecular genetics and diagnostics JO - Expert Rev Mol Diagn VL - 4 UR - https://doi.org/10.1586/14737159.4.1.15 DO - 10.1586/14737159.4.1.15 ID - Ogino2004 ER - TY - JOUR AU - Finkel, R. AU - Bertini, E. AU - Muntoni, F. AU - Mercuri, E. PY - 2015 DA - 2015// TI - 209th ENMC international workshop: outcome measures and clinical trial readiness in spinal muscular atrophy 7-9 November 2014, Heemskerk, The Netherlands JO - Neuromuscul Disord VL - 25 UR - https://doi.org/10.1016/j.nmd.2015.04.009 DO - 10.1016/j.nmd.2015.04.009 ID - Finkel2015 ER - TY - STD TI - National population projections: United States by age, gender, ethnicity and race for the years 2014-2060. https://wonder.cdc.gov/wonder/help/PopulationProjections-2060.html. Accessed 14 June 2017. UR - https://wonder.cdc.gov/wonder/help/PopulationProjections-2060.html ID - ref26 ER - TY - JOUR AU - Arias, E. PY - 2014 DA - 2014// TI - United States life tables, 2010 JO - Natl Vital Stat Rep VL - 63 ID - Arias2014 ER - TY - JOUR AU - Jedrzejowska, M. AU - Milewski, M. AU - Zimowski, J. AU - Zagozdzon, P. AU - Kostera-Pruszczyk, A. AU - Borkowska, J. AU - Sielska, D. AU - Jurek, M. AU - Hausmanowa-Petrusewicz, I. PY - 2010 DA - 2010// TI - Incidence of spinal muscular atrophy in Poland–more frequent than predicted? JO - Neuroepidemiology VL - 34 UR - https://doi.org/10.1159/000275492 DO - 10.1159/000275492 ID - Jedrzejowska2010 ER - TY - JOUR AU - Prior, T. W. AU - Snyder, P. J. AU - Rink, B. D. AU - Pearl, D. K. AU - Pyatt, R. E. AU - Mihal, D. C. AU - Conlan, T. AU - Schmalz, B. AU - Montgomery, L. AU - Ziegler, K. PY - 2010 DA - 2010// TI - Newborn and carrier screening for spinal muscular atrophy JO - Am J Med Genet A VL - 152A UR - https://doi.org/10.1002/ajmg.a.33474 DO - 10.1002/ajmg.a.33474 ID - Prior2010 ER - TY - JOUR AU - Kaufmann, P. AU - McDermott, M. P. AU - Darras, B. T. AU - Finkel, R. S. AU - Sproule, D. M. AU - Kang, P. B. AU - Oskoui, M. AU - Constantinescu, A. AU - Gooch, C. L. AU - Foley, A. R. PY - 2012 DA - 2012// TI - Prospective cohort study of spinal muscular atrophy types 2 and 3 JO - Neurology VL - 79 UR - https://doi.org/10.1212/WNL.0b013e318271f7e4 DO - 10.1212/WNL.0b013e318271f7e4 ID - Kaufmann2012 ER - TY - JOUR AU - Lemoine, T. J. AU - Swoboda, K. J. AU - Bratton, S. L. AU - Holubkov, R. AU - Mundorff, M. AU - Srivastava, R. PY - 2012 DA - 2012// TI - Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival? JO - Pediatr Crit Care Med VL - 13 UR - https://doi.org/10.1097/PCC.0b013e3182388ad1 DO - 10.1097/PCC.0b013e3182388ad1 ID - Lemoine2012 ER - TY - JOUR AU - Oskoui, M. AU - Levy, G. AU - Garland, C. J. AU - Gray, J. M. AU - O'Hagen, J. AU - De Vivo, D. C. AU - Kaufmann, P. PY - 2007 DA - 2007// TI - The changing natural history of spinal muscular atrophy type 1 JO - Neurology VL - 69 UR - https://doi.org/10.1212/01.wnl.0000290830.40544.b9 DO - 10.1212/01.wnl.0000290830.40544.b9 ID - Oskoui2007 ER - TY - JOUR AU - Mannaa, M. M. AU - Kalra, M. AU - Wong, B. AU - Cohen, A. P. AU - Amin, R. S. PY - 2009 DA - 2009// TI - Survival probabilities of patients with childhood spinal muscle atrophy JO - J Clin Neuromuscul Dis VL - 10 UR - https://doi.org/10.1097/CND.0b013e318190310f DO - 10.1097/CND.0b013e318190310f ID - Mannaa2009 ER - TY - JOUR AU - Ge, X. AU - Bai, J. AU - Lu, Y. AU - Qu, Y. AU - Song, F. PY - 2012 DA - 2012// TI - The natural history of infant spinal muscular atrophy in China: a study of 237 patients JO - J Child Neurol VL - 27 UR - https://doi.org/10.1177/0883073811420152 DO - 10.1177/0883073811420152 ID - Ge2012 ER - TY - JOUR AU - Zerres, K. AU - Rudnik-Schöneborn, S. PY - 1995 DA - 1995// TI - Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications JO - Arch Neurol VL - 52 UR - https://doi.org/10.1001/archneur.1995.00540290108025 DO - 10.1001/archneur.1995.00540290108025 ID - Zerres1995 ER - TY - JOUR AU - Chung, B. H. AU - Wong, V. C. AU - Ip, P. PY - 2004 DA - 2004// TI - Spinal muscular atrophy: survival pattern and functional status JO - Pediatrics VL - 114 UR - https://doi.org/10.1542/peds.2004-0668 DO - 10.1542/peds.2004-0668 ID - Chung2004 ER - TY - JOUR AU - Farrar, M. A. AU - Vucic, S. AU - Johnston, H. M. AU - du Sart, D. AU - Kiernan, M. C. PY - 2013 DA - 2013// TI - Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy JO - J Pediatr VL - 162 UR - https://doi.org/10.1016/j.jpeds.2012.05.067 DO - 10.1016/j.jpeds.2012.05.067 ID - Farrar2013 ER -