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Volumn 11, Issue 5, 2012, Pages 443-452

Childhood spinal muscular atrophy: Controversies and challenges

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1;

EID: 84859816485     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(12)70061-3     Document Type: Review
Times cited : (297)

References (98)
  • 1
    • 0025260440 scopus 로고
    • Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
    • Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990, 344:540-541.
    • (1990) Nature , vol.344 , pp. 540-541
    • Brzustowicz, L.M.1    Lehner, T.2    Castilla, L.H.3
  • 2
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155-165.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3
  • 3
    • 0027057672 scopus 로고
    • International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)
    • Munsat TL, Davies KE International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992, 2:423-428.
    • (1992) Neuromuscul Disord , vol.2 , pp. 423-428
    • Munsat, T.L.1    Davies, K.E.2
  • 4
    • 77953893282 scopus 로고    scopus 로고
    • Spinal muscular atrophy: mechanisms and therapeutic strategies
    • Lorson CL, Rindt H, Shababi M Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet 2010, 19:R111-R118.
    • (2010) Hum Mol Genet , vol.19
    • Lorson, C.L.1    Rindt, H.2    Shababi, M.3
  • 5
    • 34548167361 scopus 로고    scopus 로고
    • Consensus statement for standard of care in spinal muscular atrophy
    • Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007, 22:1027-1049.
    • (2007) J Child Neurol , vol.22 , pp. 1027-1049
    • Wang, C.H.1    Finkel, R.S.2    Bertini, E.S.3
  • 7
    • 36049049285 scopus 로고    scopus 로고
    • The changing natural history of spinal muscular atrophy type 1
    • Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007, 69:1931-1936.
    • (2007) Neurology , vol.69 , pp. 1931-1936
    • Oskoui, M.1    Levy, G.2    Garland, C.J.3
  • 8
    • 65649093043 scopus 로고    scopus 로고
    • Equipment options for cough augmentation, ventilation, and noninvasive interfaces in neuromuscular respiratory management
    • Boitano LJ Equipment options for cough augmentation, ventilation, and noninvasive interfaces in neuromuscular respiratory management. Pediatrics 2009, 123(suppl 4):S226-S230.
    • (2009) Pediatrics , vol.123 , Issue.SUPPL. 4
    • Boitano, L.J.1
  • 9
    • 18244407748 scopus 로고    scopus 로고
    • Natural history of denervation in SMA: relation to age, SMN2 copy number, and function
    • Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005, 57:704-712.
    • (2005) Ann Neurol , vol.57 , pp. 704-712
    • Swoboda, K.J.1    Prior, T.W.2    Scott, C.B.3
  • 10
    • 79958724642 scopus 로고    scopus 로고
    • Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year
    • Kaufmann P, McDermott MP, Darras BT, et al. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol 2011, 68:779-786.
    • (2011) Arch Neurol , vol.68 , pp. 779-786
    • Kaufmann, P.1    McDermott, M.P.2    Darras, B.T.3
  • 11
    • 45249106162 scopus 로고    scopus 로고
    • Spinal muscular atrophy
    • Lunn MR, Wang CH Spinal muscular atrophy. Lancet 2008, 371:2120-2133.
    • (2008) Lancet , vol.371 , pp. 2120-2133
    • Lunn, M.R.1    Wang, C.H.2
  • 12
    • 0036154959 scopus 로고    scopus 로고
    • 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
    • Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002, 70:358-368.
    • (2002) Am J Hum Genet , vol.70 , pp. 358-368
    • Feldkotter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 13
    • 33845232467 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
    • Arkblad EL, Darin N, Berg K, et al. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord 2006, 16:830-838.
    • (2006) Neuromuscul Disord , vol.16 , pp. 830-838
    • Arkblad, E.L.1    Darin, N.2    Berg, K.3
  • 14
    • 0043094001 scopus 로고    scopus 로고
    • A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene
    • Cusco I, Lopez E, Soler-Botija C, Jesus Barcelo M, Baiget M, Tizzano EF A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Hum Mutat 2003, 22:136-143.
    • (2003) Hum Mutat , vol.22 , pp. 136-143
    • Cusco, I.1    Lopez, E.2    Soler-Botija, C.3    Jesus Barcelo, M.4    Baiget, M.5    Tizzano, E.F.6
  • 15
    • 83255187319 scopus 로고    scopus 로고
    • Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72400 specimens
    • Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72400 specimens. Eur J Hum Genet 2012, 20:27-32.
    • (2012) Eur J Hum Genet , vol.20 , pp. 27-32
    • Sugarman, E.A.1    Nagan, N.2    Zhu, H.3
  • 16
    • 79952157125 scopus 로고    scopus 로고
    • Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study
    • Su YN, Hung CC, Lin SY, et al. 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 2011, 6:e17067.
    • (2011) PLoS One , vol.6
    • Su, Y.N.1    Hung, C.C.2    Lin, S.Y.3
  • 17
    • 84857370952 scopus 로고    scopus 로고
    • Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients
    • Amara A, Adala L, Ben Charfeddine I, et al. Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients. Eur J Paediatr Neurol 2012, 16:167-174.
    • (2012) Eur J Paediatr Neurol , vol.16 , pp. 167-174
    • Amara, A.1    Adala, L.2    Ben Charfeddine, I.3
  • 18
    • 34247566138 scopus 로고    scopus 로고
    • The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study
    • Tiziano FD, Bertini E, Messina S, et al. The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study. Neuromuscul Disord 2007, 17:400-403.
    • (2007) Neuromuscul Disord , vol.17 , pp. 400-403
    • Tiziano, F.D.1    Bertini, E.2    Messina, S.3
  • 19
    • 65649150062 scopus 로고    scopus 로고
    • Special considerations in the respiratory management of spinal muscular atrophy
    • Schroth MK Special considerations in the respiratory management of spinal muscular atrophy. Pediatrics 2009, 123(suppl 4):S245-S249.
    • (2009) Pediatrics , vol.123 , Issue.SUPPL. 4
    • Schroth, M.K.1
  • 20
    • 34250856324 scopus 로고    scopus 로고
    • Respiratory support for the severely handicapped child with neuromuscular disease: ethics and practicality
    • Simonds AK Respiratory support for the severely handicapped child with neuromuscular disease: ethics and practicality. Semin Respir Crit Care Med 2007, 28:342-354.
    • (2007) Semin Respir Crit Care Med , vol.28 , pp. 342-354
    • Simonds, A.K.1
  • 21
    • 65649130500 scopus 로고    scopus 로고
    • The pathophysiology of respiratory impairment in pediatric neuromuscular diseases
    • Panitch HB The pathophysiology of respiratory impairment in pediatric neuromuscular diseases. Pediatrics 2009, 123(suppl 4):S215-S218.
    • (2009) Pediatrics , vol.123 , Issue.SUPPL. 4
    • Panitch, H.B.1
  • 22
    • 77957376761 scopus 로고    scopus 로고
    • 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
    • Roper H, Quinlivan R 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. Arch Dis Child 2010, 95:845-849.
    • (2010) Arch Dis Child , vol.95 , pp. 845-849
    • Roper, H.1    Quinlivan, R.2
  • 23
    • 54049121013 scopus 로고    scopus 로고
    • Congenital heart disease is a feature of severe infantile spinal muscular atrophy
    • Rudnik-Schoneborn S, Heller R, Berg C, et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet 2008, 45:635-638.
    • (2008) J Med Genet , vol.45 , pp. 635-638
    • Rudnik-Schoneborn, S.1    Heller, R.2    Berg, C.3
  • 25
    • 75149135123 scopus 로고    scopus 로고
    • The effect of long term ventilatory support on hemodynamics in children with spinal muscle atrophy (SMA) type II
    • Markstrom A, Cohen G, Katz-Salamon M The effect of long term ventilatory support on hemodynamics in children with spinal muscle atrophy (SMA) type II. Sleep Med 2010, 11:201-204.
    • (2010) Sleep Med , vol.11 , pp. 201-204
    • Markstrom, A.1    Cohen, G.2    Katz-Salamon, M.3
  • 26
    • 43449122152 scopus 로고    scopus 로고
    • Feeding problems and malnutrition in spinal muscular atrophy type II
    • Messina S, Pane M, De Rose P, et al. Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord 2008, 18:389-393.
    • (2008) Neuromuscul Disord , vol.18 , pp. 389-393
    • Messina, S.1    Pane, M.2    De Rose, P.3
  • 27
    • 84857060368 scopus 로고    scopus 로고
    • Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III
    • Chen YS, Shih HH, Chen TH, Kuo CH, Jong YJ Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III. J Pediatr 2012, 160:447-451.
    • (2012) J Pediatr , vol.160 , pp. 447-451
    • Chen, Y.S.1    Shih, H.H.2    Chen, T.H.3    Kuo, C.H.4    Jong, Y.J.5
  • 28
    • 77954027340 scopus 로고    scopus 로고
    • Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy
    • Sproule DM, Montes J, Dunaway S, et al. Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. Neuromuscul Disord 2010, 20:448-452.
    • (2010) Neuromuscul Disord , vol.20 , pp. 448-452
    • Sproule, D.M.1    Montes, J.2    Dunaway, S.3
  • 29
    • 78650203521 scopus 로고    scopus 로고
    • Bioelectrical impedance analysis can be a useful screen for excess adiposity in spinal muscular atrophy
    • Sproule DM, Montes J, Dunaway SL, et al. Bioelectrical impedance analysis can be a useful screen for excess adiposity in spinal muscular atrophy. J Child Neurol 2010, 25:1348-1354.
    • (2010) J Child Neurol , vol.25 , pp. 1348-1354
    • Sproule, D.M.1    Montes, J.2    Dunaway, S.L.3
  • 30
    • 67349115223 scopus 로고    scopus 로고
    • Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy
    • Sproule DM, Montes J, Montgomery M, et al. Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy. Neuromuscul Disord 2009, 19:391-396.
    • (2009) Neuromuscul Disord , vol.19 , pp. 391-396
    • Sproule, D.M.1    Montes, J.2    Montgomery, M.3
  • 31
    • 0034753468 scopus 로고    scopus 로고
    • Lung function measurements in young children with spinal muscle atrophy; a cross sectional survey on the effect of position and bracing
    • Tangsrud SE, Carlsen KC, Lund-Petersen I, Carlsen KH Lung function measurements in young children with spinal muscle atrophy; a cross sectional survey on the effect of position and bracing. Arch Dis Child 2001, 84:521-524.
    • (2001) Arch Dis Child , vol.84 , pp. 521-524
    • Tangsrud, S.E.1    Carlsen, K.C.2    Lund-Petersen, I.3    Carlsen, K.H.4
  • 33
    • 38549129749 scopus 로고    scopus 로고
    • Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood
    • Fujak A, Ingenhorst A, Heuser K, Forst R, Forst J Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood. Ortop Traumatol Rehabil 2005, 7:175-179.
    • (2005) Ortop Traumatol Rehabil , vol.7 , pp. 175-179
    • Fujak, A.1    Ingenhorst, A.2    Heuser, K.3    Forst, R.4    Forst, J.5
  • 35
    • 4444291534 scopus 로고    scopus 로고
    • Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III
    • Chng SY, Wong YQ, Hui JH, Wong HK, Ong HT, Goh DY Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. J Paediatr Child Health 2003, 39:673-676.
    • (2003) J Paediatr Child Health , vol.39 , pp. 673-676
    • Chng, S.Y.1    Wong, Y.Q.2    Hui, J.H.3    Wong, H.K.4    Ong, H.T.5    Goh, D.Y.6
  • 38
    • 24744443293 scopus 로고    scopus 로고
    • Dual growing rod technique for the treatment of progressive early-onset scoliosis: a multicenter study
    • Akbarnia BA, Boachie-Adjei O, Thompson AG, Asher MA Dual growing rod technique for the treatment of progressive early-onset scoliosis: a multicenter study. Spine (Phila Pa 1976) 2005, 30(17 suppl):S46-S57.
    • (2005) Spine (Phila Pa 1976) , vol.30 , Issue.17 SUPPL.
    • Akbarnia, B.A.1    Boachie-Adjei, O.2    Thompson, A.G.3    Asher, M.A.4
  • 39
    • 24744455883 scopus 로고    scopus 로고
    • The treatment of spine and chest wall deformities with fused ribs by expansion thoracostomy and insertion of vertical expandable prosthetic titanium rib: growth of thoracic spine and improvement of lung volumes
    • Emans JB, Ordonez CL, Lee EY, Ciarlo M The treatment of spine and chest wall deformities with fused ribs by expansion thoracostomy and insertion of vertical expandable prosthetic titanium rib: growth of thoracic spine and improvement of lung volumes. Spine (Phila Pa 1976) 2005, 30(17 suppl):S58-S68.
    • (2005) Spine (Phila Pa 1976) , vol.30 , Issue.17 SUPPL.
    • Emans, J.B.1    Ordonez, C.L.2    Lee, E.Y.3    Ciarlo, M.4
  • 40
    • 27244453819 scopus 로고    scopus 로고
    • The vertical expandable prosthetic titanium rib implant for the treatment of thoracic insufficiency syndrome associated with congenital and neuromuscular scoliosis in young children
    • Hell AK, Campbell RM, Hefti F The vertical expandable prosthetic titanium rib implant for the treatment of thoracic insufficiency syndrome associated with congenital and neuromuscular scoliosis in young children. J Pediatr Orthop B 2005, 14:287-293.
    • (2005) J Pediatr Orthop B , vol.14 , pp. 287-293
    • Hell, A.K.1    Campbell, R.M.2    Hefti, F.3
  • 41
    • 34147114380 scopus 로고    scopus 로고
    • Growing rod techniques in early-onset scoliosis
    • Thompson GH Growing rod techniques in early-onset scoliosis. J Pediatr Orthop 2007, 27:354-361.
    • (2007) J Pediatr Orthop , vol.27 , pp. 354-361
    • Thompson, G.H.1
  • 42
    • 79957707772 scopus 로고    scopus 로고
    • Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report
    • Chandran S, McCarthy J, Noonan K, Mann D, Nemeth B, Guiliani T Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report. J Pediatr Orthop 2011, 31:450-454.
    • (2011) J Pediatr Orthop , vol.31 , pp. 450-454
    • Chandran, S.1    McCarthy, J.2    Noonan, K.3    Mann, D.4    Nemeth, B.5    Guiliani, T.6
  • 43
    • 79960696744 scopus 로고    scopus 로고
    • Growing rods for scoliosis in spinal muscular atrophy: structural effects, complications, and hospital stays
    • McElroy MJ, Shaner AC, Crawford TO, et al. Growing rods for scoliosis in spinal muscular atrophy: structural effects, complications, and hospital stays. Spine (Phila Pa 1976) 2011, 36:1305-1311.
    • (2011) Spine (Phila Pa 1976) , vol.36 , pp. 1305-1311
    • McElroy, M.J.1    Shaner, A.C.2    Crawford, T.O.3
  • 46
    • 65849222556 scopus 로고    scopus 로고
    • Phase II open label study of valproic acid in spinal muscular atrophy
    • Swoboda KJ, Scott CB, Reyna SP, et al. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One 2009, 4:e5268.
    • (2009) PLoS One , vol.4
    • Swoboda, K.J.1    Scott, C.B.2    Reyna, S.P.3
  • 47
    • 68849104811 scopus 로고    scopus 로고
    • Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy
    • Shanmugarajan S, Tsuruga E, Swoboda KJ, Maria BL, Ries WL, Reddy SV Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol 2009, 219:52-60.
    • (2009) J Pathol , vol.219 , pp. 52-60
    • Shanmugarajan, S.1    Tsuruga, E.2    Swoboda, K.J.3    Maria, B.L.4    Ries, W.L.5    Reddy, S.V.6
  • 48
    • 0035044661 scopus 로고    scopus 로고
    • The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III
    • Rudnik-Schoneborn S, Hausmanowa-Petrusewicz I, Borkowska J, Zerres K The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III. Eur Neurol 2001, 45:174-181.
    • (2001) Eur Neurol , vol.45 , pp. 174-181
    • Rudnik-Schoneborn, S.1    Hausmanowa-Petrusewicz, I.2    Borkowska, J.3    Zerres, K.4
  • 50
    • 79956321751 scopus 로고    scopus 로고
    • Improving the transition between paediatric and adult healthcare: a systematic review
    • Crowley R, Wolfe I, Lock K, McKee M Improving the transition between paediatric and adult healthcare: a systematic review. Arch Dis Child 2011, 96:548-553.
    • (2011) Arch Dis Child , vol.96 , pp. 548-553
    • Crowley, R.1    Wolfe, I.2    Lock, K.3    McKee, M.4
  • 52
    • 9144269242 scopus 로고    scopus 로고
    • Pilot trial of phenylbutyrate in spinal muscular atrophy
    • Mercuri E, Bertini E, Messina S, et al. Pilot trial of phenylbutyrate in spinal muscular atrophy. Neuromuscul Disord 2004, 14:130-135.
    • (2004) Neuromuscul Disord , vol.14 , pp. 130-135
    • Mercuri, E.1    Bertini, E.2    Messina, S.3
  • 53
    • 33846114574 scopus 로고    scopus 로고
    • Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
    • Mercuri E, Bertini E, Messina S, et al. Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology 2007, 68:51-55.
    • (2007) Neurology , vol.68 , pp. 51-55
    • Mercuri, E.1    Bertini, E.2    Messina, S.3
  • 54
    • 46749083736 scopus 로고    scopus 로고
    • Daily salbutamol in young patients with SMA type II
    • Pane M, Staccioli S, Messina S, et al. Daily salbutamol in young patients with SMA type II. Neuromuscul Disord 2008, 18:536-540.
    • (2008) Neuromuscul Disord , vol.18 , pp. 536-540
    • Pane, M.1    Staccioli, S.2    Messina, S.3
  • 55
    • 78649636116 scopus 로고    scopus 로고
    • Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design
    • Tiziano FD, Lomastro R, Pinto AM, et al. Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. J Med Genet; 47: 856-58.
    • J Med Genet , vol.47 , pp. 856-58
    • Tiziano, F.D.1    Lomastro, R.2    Pinto, A.M.3
  • 56
    • 79959988589 scopus 로고    scopus 로고
    • SMA CARNIVAL Trial Part II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy
    • e21296
    • Kissel JT, Scott CB, Reyna SP, et al. SMA CARNIVAL Trial Part II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One; 6: e21296.
    • PLoS One , vol.6
    • Kissel, J.T.1    Scott, C.B.2    Reyna, S.P.3
  • 57
    • 0035886619 scopus 로고    scopus 로고
    • A placebo-controlled trial of gabapentin in spinal muscular atrophy
    • Miller RG, Moore DH, Dronsky V, et al. A placebo-controlled trial of gabapentin in spinal muscular atrophy. J Neurol Sci 2001, 191:127-131.
    • (2001) J Neurol Sci , vol.191 , pp. 127-131
    • Miller, R.G.1    Moore, D.H.2    Dronsky, V.3
  • 58
    • 77957929588 scopus 로고    scopus 로고
    • SMA CARNIVAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy
    • Swoboda KJ, Scott CB, Crawford TO, et al. SMA CARNIVAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One 2010, 5:e12140.
    • (2010) PLoS One , vol.5
    • Swoboda, K.J.1    Scott, C.B.2    Crawford, T.O.3
  • 59
    • 0037183535 scopus 로고    scopus 로고
    • Pilot trial of albuterol in spinal muscular atrophy
    • Kinali M, Mercuri E, Main M, et al. Pilot trial of albuterol in spinal muscular atrophy. Neurology 2002, 59:609-610.
    • (2002) Neurology , vol.59 , pp. 609-610
    • Kinali, M.1    Mercuri, E.2    Main, M.3
  • 60
    • 0042383467 scopus 로고    scopus 로고
    • Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study
    • Merlini L, Solari A, Vita G, et al. Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study. J Child Neurol 2003, 18:537-541.
    • (2003) J Child Neurol , vol.18 , pp. 537-541
    • Merlini, L.1    Solari, A.2    Vita, G.3
  • 61
    • 26944503463 scopus 로고    scopus 로고
    • 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands
    • Bertini E, Burghes A, Bushby K, et al. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord 2005, 15:802-816.
    • (2005) Neuromuscul Disord , vol.15 , pp. 802-816
    • Bertini, E.1    Burghes, A.2    Bushby, K.3
  • 63
    • 77956578919 scopus 로고    scopus 로고
    • Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenges for clinical development
    • Pruss RM, Giraudon-Paoli M, Morozova S, Berna P, Abitbol JL, Bordet T Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenges for clinical development. Future Med Chem 2010, 2:1429-1440.
    • (2010) Future Med Chem , vol.2 , pp. 1429-1440
    • Pruss, R.M.1    Giraudon-Paoli, M.2    Morozova, S.3    Berna, P.4    Abitbol, J.L.5    Bordet, T.6
  • 64
    • 79952277578 scopus 로고    scopus 로고
    • Therapeutics that directly increase SMN expression to treat spinal muscular atrophy
    • Shababi M, Mattis VB, Lorson CL Therapeutics that directly increase SMN expression to treat spinal muscular atrophy. Drug News Perspect 2010, 23:475-482.
    • (2010) Drug News Perspect , vol.23 , pp. 475-482
    • Shababi, M.1    Mattis, V.B.2    Lorson, C.L.3
  • 65
    • 53249098299 scopus 로고    scopus 로고
    • Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th-13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June-1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD
    • Mercuri E, Mayhew A, Muntoni F, et al. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th-13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June-1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France. Neuromuscul Disord 2008, 18:894-903.
    • (2008) Neuromuscul Disord , vol.18 , pp. 894-903
    • Mercuri, E.1    Mayhew, A.2    Muntoni, F.3
  • 67
    • 34548154298 scopus 로고    scopus 로고
    • Perspectives on clinical trials in spinal muscular atrophy
    • Swoboda KJ, Kissel JT, Crawford TO, et al. Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol 2007, 22:957-966.
    • (2007) J Child Neurol , vol.22 , pp. 957-966
    • Swoboda, K.J.1    Kissel, J.T.2    Crawford, T.O.3
  • 69
    • 79958724642 scopus 로고    scopus 로고
    • Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year
    • Kaufmann P, McDermott MP, Darras BT, et al. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol 2011, 68:779-786.
    • (2011) Arch Neurol , vol.68 , pp. 779-786
    • Kaufmann, P.1    McDermott, M.P.2    Darras, B.T.3
  • 70
    • 31944440025 scopus 로고    scopus 로고
    • Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study
    • Mercuri E, Messina S, Battini R, et al. Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord 2006, 16:93-98.
    • (2006) Neuromuscul Disord , vol.16 , pp. 93-98
    • Mercuri, E.1    Messina, S.2    Battini, R.3
  • 71
    • 1842529578 scopus 로고    scopus 로고
    • Motor function-muscle strength relationship in spinal muscular atrophy
    • Merlini L, Bertini E, Minetti C, et al. Motor function-muscle strength relationship in spinal muscular atrophy. Muscle Nerve 2004, 29:548-552.
    • (2004) Muscle Nerve , vol.29 , pp. 548-552
    • Merlini, L.1    Bertini, E.2    Minetti, C.3
  • 72
  • 73
    • 21244460238 scopus 로고    scopus 로고
    • A motor function measure for neuromuscular diseases. Construction and validation study
    • Berard C, Payan C, Hodgkinson I, Fermanian J A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord 2005, 15:463-470.
    • (2005) Neuromuscul Disord , vol.15 , pp. 463-470
    • Berard, C.1    Payan, C.2    Hodgkinson, I.3    Fermanian, J.4
  • 74
    • 33745027696 scopus 로고    scopus 로고
    • The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy
    • Nelson L, Owens H, Hynan LS, Iannaccone ST The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy. Neuromuscul Disord 2006, 16:374-380.
    • (2006) Neuromuscul Disord , vol.16 , pp. 374-380
    • Nelson, L.1    Owens, H.2    Hynan, L.S.3    Iannaccone, S.T.4
  • 75
    • 81855228689 scopus 로고    scopus 로고
    • Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
    • Glanzman AM, McDermott MP, Montes J, et al. Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther 2011, 23:322-326.
    • (2011) Pediatr Phys Ther , vol.23 , pp. 322-326
    • Glanzman, A.M.1    McDermott, M.P.2    Montes, J.3
  • 76
    • 56149090248 scopus 로고    scopus 로고
    • The test of infant motor performance: reliability in spinal muscular atrophy type I
    • Finkel RS, Hynan LS, Glanzman AM, et al. The test of infant motor performance: reliability in spinal muscular atrophy type I. Pediatr Phys Ther 2008, 20:242-246.
    • (2008) Pediatr Phys Ther , vol.20 , pp. 242-246
    • Finkel, R.S.1    Hynan, L.S.2    Glanzman, A.M.3
  • 77
    • 0043092414 scopus 로고    scopus 로고
    • The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation
    • Main M, Kairon H, Mercuri E, Muntoni F The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 2003, 7:155-159.
    • (2003) Eur J Paediatr Neurol , vol.7 , pp. 155-159
    • Main, M.1    Kairon, H.2    Mercuri, E.3    Muntoni, F.4
  • 78
    • 79956124923 scopus 로고    scopus 로고
    • Assessing upper limb function in nonambulant SMA patients: development of a new module
    • Mazzone E, Bianco F, Martinelli D, et al. Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord 2011, 21:406-412.
    • (2011) Neuromuscul Disord , vol.21 , pp. 406-412
    • Mazzone, E.1    Bianco, F.2    Martinelli, D.3
  • 79
    • 34548426950 scopus 로고    scopus 로고
    • An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
    • O'Hagen JM, Glanzman AM, McDermott MP, et al. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord 2007, 17:693-697.
    • (2007) Neuromuscul Disord , vol.17 , pp. 693-697
    • O'Hagen, J.M.1    Glanzman, A.M.2    McDermott, M.P.3
  • 80
    • 82455168056 scopus 로고    scopus 로고
    • Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III
    • Glanzman AM, O'Hagen JM, McDermott MP, et al. Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol 2011, 26:1499-1507.
    • (2011) J Child Neurol , vol.26 , pp. 1499-1507
    • Glanzman, A.M.1    O'Hagen, J.M.2    McDermott, M.P.3
  • 81
    • 33746355222 scopus 로고    scopus 로고
    • A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy
    • Krosschell KJ, Maczulski JA, Crawford TO, Scott C, Swoboda KJ A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul Disord 2006, 16:417-426.
    • (2006) Neuromuscul Disord , vol.16 , pp. 417-426
    • Krosschell, K.J.1    Maczulski, J.A.2    Crawford, T.O.3    Scott, C.4    Swoboda, K.J.5
  • 82
    • 79960553384 scopus 로고    scopus 로고
    • Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy
    • Krosschell KJ, Scott CB, Maczulski JA, Lewelt AJ, Reyna SP, Swoboda KJ Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy. Muscle Nerve 2011, 44:246-251.
    • (2011) Muscle Nerve , vol.44 , pp. 246-251
    • Krosschell, K.J.1    Scott, C.B.2    Maczulski, J.A.3    Lewelt, A.J.4    Reyna, S.P.5    Swoboda, K.J.6
  • 83
    • 77949369981 scopus 로고    scopus 로고
    • Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy
    • Montes J, McDermott MP, Martens WB, et al. Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy. Neurology 2010, 74:833-838.
    • (2010) Neurology , vol.74 , pp. 833-838
    • Montes, J.1    McDermott, M.P.2    Martens, W.B.3
  • 84
    • 0036726945 scopus 로고    scopus 로고
    • Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study
    • Steffensen BF, Lyager S, Werge B, Rahbek J, Mattsson E Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study. Dev Med Child Neurol 2002, 44:623-632.
    • (2002) Dev Med Child Neurol , vol.44 , pp. 623-632
    • Steffensen, B.F.1    Lyager, S.2    Werge, B.3    Rahbek, J.4    Mattsson, E.5
  • 85
    • 70449525150 scopus 로고    scopus 로고
    • The PedsQL in pediatric patients with spinal muscular atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module
    • Iannaccone ST, Hynan LS, Morton A, Buchanan R, Limbers CA, Varni JW The PedsQL in pediatric patients with spinal muscular atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module. Neuromuscul Disord 2009, 19:805-812.
    • (2009) Neuromuscul Disord , vol.19 , pp. 805-812
    • Iannaccone, S.T.1    Hynan, L.S.2    Morton, A.3    Buchanan, R.4    Limbers, C.A.5    Varni, J.W.6
  • 86
    • 70349991708 scopus 로고    scopus 로고
    • Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
    • Rudnik-Schoneborn S, Berg C, Zerres K, et al. Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling. Clin Genet 2009, 76:168-178.
    • (2009) Clin Genet , vol.76 , pp. 168-178
    • Rudnik-Schoneborn, S.1    Berg, C.2    Zerres, K.3
  • 87
    • 0042524580 scopus 로고    scopus 로고
    • Reliability of 4 outcome measures in pediatric spinal muscular atrophy
    • Iannaccone ST, Hynan LS Reliability of 4 outcome measures in pediatric spinal muscular atrophy. Arch Neurol 2003, 60:1130-1136.
    • (2003) Arch Neurol , vol.60 , pp. 1130-1136
    • Iannaccone, S.T.1    Hynan, L.S.2
  • 88
    • 77950521387 scopus 로고    scopus 로고
    • The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability
    • Glanzman AM, Mazzone E, Main M, et al. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord; 20: 155-61.
    • Neuromuscul Disord , vol.20 , pp. 155-61
    • Glanzman, A.M.1    Mazzone, E.2    Main, M.3
  • 89
    • 79960553384 scopus 로고    scopus 로고
    • Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy
    • Krosschell KJ, Scott CB, Maczulski JA, Lewelt AJ, Reyna SP, Swoboda KJ Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy. Muscle Nerve 2011, 44:246-251.
    • (2011) Muscle Nerve , vol.44 , pp. 246-251
    • Krosschell, K.J.1    Scott, C.B.2    Maczulski, J.A.3    Lewelt, A.J.4    Reyna, S.P.5    Swoboda, K.J.6
  • 90
    • 0036194714 scopus 로고    scopus 로고
    • Motor unit number estimation in infants and children with spinal muscular atrophy
    • Bromberg MB, Swoboda KJ Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve 2002, 25:445-447.
    • (2002) Muscle Nerve , vol.25 , pp. 445-447
    • Bromberg, M.B.1    Swoboda, K.J.2
  • 91
    • 0242302344 scopus 로고    scopus 로고
    • Counting motor units in chronic motor neuropathies
    • Bromberg MB, Swoboda KJ, Lawson VH Counting motor units in chronic motor neuropathies. Exp Neurol 2003, 184(suppl 1):S53-S57.
    • (2003) Exp Neurol , vol.184 , Issue.SUPPL. 1
    • Bromberg, M.B.1    Swoboda, K.J.2    Lawson, V.H.3
  • 92
    • 77954103716 scopus 로고    scopus 로고
    • Compound muscle action potential and motor function in children with spinal muscular atrophy
    • Lewelt A, Krosschell KJ, Scott C, et al. Compound muscle action potential and motor function in children with spinal muscular atrophy. Muscle Nerve 2010, 42:703-708.
    • (2010) Muscle Nerve , vol.42 , pp. 703-708
    • Lewelt, A.1    Krosschell, K.J.2    Scott, C.3
  • 93
    • 79956006620 scopus 로고    scopus 로고
    • Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy
    • Mayhew A, Cano S, Scott E, Eagle M, Bushby K, Muntoni F Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol 2011, 53:535-542.
    • (2011) Dev Med Child Neurol , vol.53 , pp. 535-542
    • Mayhew, A.1    Cano, S.2    Scott, E.3    Eagle, M.4    Bushby, K.5    Muntoni, F.6
  • 94
    • 33846820104 scopus 로고    scopus 로고
    • Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA
    • Simard LR, Belanger MC, Morissette S, Wride M, Prior TW, Swoboda KJ Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA. Neurology 2007, 68:451-456.
    • (2007) Neurology , vol.68 , pp. 451-456
    • Simard, L.R.1    Belanger, M.C.2    Morissette, S.3    Wride, M.4    Prior, T.W.5    Swoboda, K.J.6
  • 95
    • 79251613020 scopus 로고    scopus 로고
    • Biomarkers in rare disorders: the experience with spinal muscular atrophy
    • Tiziano FD, Neri G, Brahe C Biomarkers in rare disorders: the experience with spinal muscular atrophy. Int J Mol Sci 2010, 12:24-38.
    • (2010) Int J Mol Sci , vol.12 , pp. 24-38
    • Tiziano, F.D.1    Neri, G.2    Brahe, C.3
  • 96
    • 77449106557 scopus 로고    scopus 로고
    • SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
    • Tiziano FD, Pinto AM, Fiori S, et al. SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet 2010, 18:52-58.
    • (2010) Eur J Hum Genet , vol.18 , pp. 52-58
    • Tiziano, F.D.1    Pinto, A.M.2    Fiori, S.3
  • 97
    • 78651418883 scopus 로고    scopus 로고
    • [Preimplantation genetic diagnosis in prevention of genetic diseases-diagnostic of spinal muscular atrophy (SMA)]
    • (in Polish).
    • Liss J, Bruszczynska A, Lukaszuk K [Preimplantation genetic diagnosis in prevention of genetic diseases-diagnostic of spinal muscular atrophy (SMA)]. Ginekol Pol 2010, 81:918-921. (in Polish).
    • (2010) Ginekol Pol , vol.81 , pp. 918-921
    • Liss, J.1    Bruszczynska, A.2    Lukaszuk, K.3
  • 98
    • 80054823865 scopus 로고    scopus 로고
    • Are the kids really alright? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?
    • 16
    • Howard HC, Avard D, Borry P Are the kids really alright? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?. Eur J Hum Genet 2011, 19:1122. 16.
    • (2011) Eur J Hum Genet , vol.19 , pp. 1122
    • Howard, H.C.1    Avard, D.2    Borry, P.3


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