메뉴 건너뛰기




Volumn , Issue , 2015, Pages 117-145

Spinal Muscular Atrophies

Author keywords

5q SMA; Dubowitz disease; Kugelberg Welander disease; Non 5q SMAs; Spinal muscular atrophy; Survival of motor neuron protein; Werdnig Hoffman disease

Indexed keywords


EID: 84929956868     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-417044-5.00008-1     Document Type: Chapter
Times cited : (51)

References (223)
  • 1
    • 0001269734 scopus 로고
    • Zwei fruihnfantile hereditare Falle von progressive Muskelatrophie unter dem Bilde der Dystrophie,aber auf neurotischer Grundlage
    • Werdnig G. Zwei fruihnfantile hereditare Falle von progressive Muskelatrophie unter dem Bilde der Dystrophie,aber auf neurotischer Grundlage. Arch Psychiatr Neurol 1891, 22:437-481.
    • (1891) Arch Psychiatr Neurol , vol.22 , pp. 437-481
    • Werdnig, G.1
  • 2
    • 0000020061 scopus 로고
    • Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis
    • Hoffmann J. Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis. Deutsch Z Nervenheilk 1893, 3:427-470.
    • (1893) Deutsch Z Nervenheilk , vol.3 , pp. 427-470
    • Hoffmann, J.1
  • 3
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • Monani U.R., Lorson C.L., Parsons D.W., Prior T.W., Androphy E.J., Burghes A.H., et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999, 8:1177-1183.
    • (1999) Hum Mol Genet , vol.8 , pp. 1177-1183
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3    Prior, T.W.4    Androphy, E.J.5    Burghes, A.H.6
  • 4
    • 0018238065 scopus 로고
    • Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
    • Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978, 15:409-413.
    • (1978) J Med Genet , vol.15 , pp. 409-413
    • Pearn, J.1
  • 5
    • 0037100098 scopus 로고    scopus 로고
    • Genetic risk assessment in carrier testing for spinal muscular atrophy
    • Ogino S., Leonard D.G., Rennert H., Ewens W.J., Wilson R.B. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet 2002, 110:301-307.
    • (2002) Am J Med Genet , vol.110 , pp. 301-307
    • Ogino, S.1    Leonard, D.G.2    Rennert, H.3    Ewens, W.J.4    Wilson, R.B.5
  • 6
    • 10044220623 scopus 로고    scopus 로고
    • New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations
    • Ogino S., Wilson R.B., Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet 2004, 12:1015-1023.
    • (2004) Eur J Hum Genet , vol.12 , pp. 1015-1023
    • Ogino, S.1    Wilson, R.B.2    Gold, B.3
  • 7
    • 83255187319 scopus 로고    scopus 로고
    • Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens
    • Sugarman E.A., Nagan N., Zhu H., Akmaev V.R., Zhou Z., Rohlfs E.M., et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 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    Akmaev, V.R.4    Zhou, Z.5    Rohlfs, E.M.6
  • 9
    • 0027175977 scopus 로고
    • Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen)
    • Thieme A., Mitulla B., Schulze F., Spiegler A.W. Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen). Hum Genet 1993, 91:295-297.
    • (1993) Hum Genet , vol.91 , pp. 295-297
    • Thieme, A.1    Mitulla, B.2    Schulze, F.3    Spiegler, A.W.4
  • 10
    • 0036368287 scopus 로고    scopus 로고
    • Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
    • Mailman M.D., Heinz J.W., Papp A.C., Snyder P.J., Sedra M.S., Wirth B., et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002, 4:20-26.
    • (2002) Genet Med , vol.4 , pp. 20-26
    • Mailman, M.D.1    Heinz, J.W.2    Papp, A.C.3    Snyder, P.J.4    Sedra, M.S.5    Wirth, B.6
  • 11
    • 23844516090 scopus 로고    scopus 로고
    • Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population
    • Zaldivar T., Montejo Y., Acevedo A.M., Guerra R., Vargas J., Garofalo N., et al. Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population. Neurology 2005, 65:636-638.
    • (2005) Neurology , vol.65 , pp. 636-638
    • Zaldivar, T.1    Montejo, Y.2    Acevedo, A.M.3    Guerra, R.4    Vargas, J.5    Garofalo, N.6
  • 14
    • 0032991013 scopus 로고    scopus 로고
    • 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria. 17-19 April 1998, Soestduinen, The Netherlands
    • Zerres K., Davies K.E. 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria. 17-19 April 1998, Soestduinen, The Netherlands. Neuromuscul Disord 1999, 9:272-278.
    • (1999) Neuromuscul Disord , vol.9 , pp. 272-278
    • Zerres, K.1    Davies, K.E.2
  • 15
    • 0028813584 scopus 로고
    • Chaos in the classification of SMA: a possible resolution
    • Dubowitz V. Chaos in the classification of SMA: a possible resolution. Neuromuscul Disord 1995, 5:3-5.
    • (1995) Neuromuscul Disord , vol.5 , pp. 3-5
    • Dubowitz, V.1
  • 18
    • 0000220374 scopus 로고
    • Infantile muscular atrophy
    • Byers R.K., Banker B.Q. Infantile muscular atrophy. Arch Neurol 1961, 5:140-164.
    • (1961) Arch Neurol , vol.5 , pp. 140-164
    • Byers, R.K.1    Banker, B.Q.2
  • 19
    • 0032954263 scopus 로고    scopus 로고
    • Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype
    • Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol 1999, 3:49-51.
    • (1999) Eur J Paediatr Neurol , vol.3 , pp. 49-51
    • Dubowitz, V.1
  • 21
    • 0028067907 scopus 로고
    • The natural history of type I (severe) spinal muscular atrophy
    • Thomas N.H., Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord 1994, 4:497-502.
    • (1994) Neuromuscul Disord , vol.4 , pp. 497-502
    • Thomas, N.H.1    Dubowitz, V.2
  • 23
    • 0028904953 scopus 로고
    • Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications
    • Zerres K., Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995, 52:518-523.
    • (1995) Arch Neurol , vol.52 , pp. 518-523
    • Zerres, K.1    Rudnik-Schöneborn, S.2
  • 24
    • 0029914932 scopus 로고    scopus 로고
    • Spinal muscular atrophy. 32nd ENMC International Workshop. Naarden, the Netherlands, 10-12 March 1995
    • Munsat T., Davies K. Spinal muscular atrophy. 32nd ENMC International Workshop. Naarden, the Netherlands, 10-12 March 1995. Neuromuscul Disord 1996, 6:125-127.
    • (1996) Neuromuscul Disord , vol.6 , pp. 125-127
    • Munsat, T.1    Davies, K.2
  • 26
    • 40449084094 scopus 로고    scopus 로고
    • Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature
    • Menke L.A., Poll-The B.T., Clur S.A., Bilardo C.M., van der Wal A.C., Lemmink H.H., et al. Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. Am J Med Genet A 2008, 146A:740-744.
    • (2008) Am J Med Genet A , vol.146A , pp. 740-744
    • Menke, L.A.1    Poll-The, B.T.2    Clur, S.A.3    Bilardo, C.M.4    van der Wal, A.C.5    Lemmink, H.H.6
  • 28
    • 77957735974 scopus 로고    scopus 로고
    • Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
    • Heier C.R., Satta R., Lutz C., DiDonato C.J. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet 2010, 19:3906-3918.
    • (2010) Hum Mol Genet , vol.19 , pp. 3906-3918
    • Heier, C.R.1    Satta, R.2    Lutz, C.3    DiDonato, C.J.4
  • 29
    • 77957741150 scopus 로고    scopus 로고
    • Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
    • Bevan A.K., Hutchinson K.R., Foust K.D., Braun L., McGovern V.L., Schmelzer L., et al. Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet 2010, 19:3895-3905.
    • (2010) Hum Mol Genet , vol.19 , pp. 3895-3905
    • Bevan, A.K.1    Hutchinson, K.R.2    Foust, K.D.3    Braun, L.4    McGovern, V.L.5    Schmelzer, L.6
  • 30
  • 31
    • 77954132733 scopus 로고    scopus 로고
    • Digital necroses and vascular thrombosis in severe spinal muscular atrophy
    • Rudnik-Schöneborn S., Vogelgesang S., Armbrust S., et al. Digital necroses and vascular thrombosis in severe spinal muscular atrophy. Muscle Nerve 2010, 42:144-147.
    • (2010) Muscle Nerve , vol.42 , pp. 144-147
    • Rudnik-Schöneborn, S.1    Vogelgesang, S.2    Armbrust, S.3
  • 32
    • 67651083652 scopus 로고    scopus 로고
    • Vascular perfusion abnormalities in infants with spinal muscular atrophy
    • Araujo Ade Q., Araujo M., Swoboda K.J. Vascular perfusion abnormalities in infants with spinal muscular atrophy. J Pediatr 2009, 155:292-294.
    • (2009) J Pediatr , vol.155 , pp. 292-294
    • Araujo Ade, Q.1    Araujo, M.2    Swoboda, K.J.3
  • 34
    • 58849112774 scopus 로고
    • Progressive muscular atrophy in a child with a spinal lesion
    • Thompson J., Bruce A. Progressive muscular atrophy in a child with a spinal lesion. Edinb Hosp Rep 1893, 1:372.
    • (1893) Edinb Hosp Rep , vol.1 , pp. 372
    • Thompson, J.1    Bruce, A.2
  • 35
    • 0000757971 scopus 로고
    • Infantile muscular atrophy: A prospective study with particular reference to a slowly progressive variety
    • Dubowitz V. Infantile muscular atrophy: A prospective study with particular reference to a slowly progressive variety. Brain 1964, 87:707-718.
    • (1964) Brain , vol.87 , pp. 707-718
    • Dubowitz, V.1
  • 36
    • 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 D.M., Montes J., Montgomery M., Battista V., Koenigsberger D., Shen W., 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    Battista, V.4    Koenigsberger, D.5    Shen, W.6
  • 38
    • 0031587699 scopus 로고    scopus 로고
    • A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients
    • Zerres K., Rudnik-Schöneborn S., Forrest E., Lusakowska A., Borkowska J., Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci 1997, 146:67-72.
    • (1997) J Neurol Sci , vol.146 , pp. 67-72
    • Zerres, K.1    Rudnik-Schöneborn, S.2    Forrest, E.3    Lusakowska, A.4    Borkowska, J.5    Hausmanowa-Petrusewicz, I.6
  • 39
    • 0000089061 scopus 로고
    • Heredofamilial juvenile muscular atrophy simulating muscular dystrophy
    • Kugelberg E., Welander L. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. AMA Arch Neurol Psychiatry 1956, 75:500-509.
    • (1956) AMA Arch Neurol Psychiatry , vol.75 , pp. 500-509
    • Kugelberg, E.1    Welander, L.2
  • 41
    • 0030870721 scopus 로고    scopus 로고
    • Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene
    • Bingham P.M., Shen N., Rennert H., Rorke L.B., Black A.W., Marin-Padilla M.M., et al. Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene. Neurology 1997, 49:848-851.
    • (1997) Neurology , vol.49 , pp. 848-851
    • Bingham, P.M.1    Shen, N.2    Rennert, H.3    Rorke, L.B.4    Black, A.W.5    Marin-Padilla, M.M.6
  • 42
    • 0030750954 scopus 로고    scopus 로고
    • Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region
    • Korinthenberg R., Sauer M., Ketelsen U.P., Hanemann C.O., Stoll G., Graf M., et al. Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region. Ann Neurol 1997, 42:364-368.
    • (1997) Ann Neurol , vol.42 , pp. 364-368
    • Korinthenberg, R.1    Sauer, M.2    Ketelsen, U.P.3    Hanemann, C.O.4    Stoll, G.5    Graf, M.6
  • 43
    • 34548190615 scopus 로고    scopus 로고
    • Spinal muscular atrophy: clinical classification and disease heterogeneity
    • Russman B.S. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol 2007, 22:946-951.
    • (2007) J Child Neurol , vol.22 , pp. 946-951
    • Russman, B.S.1
  • 45
    • 80051539024 scopus 로고    scopus 로고
    • Non-5q spinal muscular atrophies: The alphanumeric soup thickens
    • Darras B.T. Non-5q spinal muscular atrophies: The alphanumeric soup thickens. Neurology 2011, 77:312-314.
    • (2011) Neurology , vol.77 , pp. 312-314
    • Darras, B.T.1
  • 46
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S., Burglen L., Reboullet S., Clermont O., Burlet P., Viollet L., 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    Clermont, O.4    Burlet, P.5    Viollet, L.6
  • 47
    • 0033983258 scopus 로고    scopus 로고
    • An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
    • Lorson C.L., Androphy E.J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 2000, 9:259-265.
    • (2000) Hum Mol Genet , vol.9 , pp. 259-265
    • Lorson, C.L.1    Androphy, E.J.2
  • 48
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • Lefebvre S., Burlet P., Liu Q., Bertrandy S., Clermont O., Munnich A., et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997, 16:265-269.
    • (1997) Nat Genet , vol.16 , pp. 265-269
    • Lefebvre, S.1    Burlet, P.2    Liu, Q.3    Bertrandy, S.4    Clermont, O.5    Munnich, A.6
  • 49
    • 34548149015 scopus 로고    scopus 로고
    • Spinal muscular atrophy diagnostics
    • Prior T.W. Spinal muscular atrophy diagnostics. J Child Neurol 2007, 22:952-956.
    • (2007) J Child Neurol , vol.22 , pp. 952-956
    • Prior, T.W.1
  • 50
    • 0031059705 scopus 로고    scopus 로고
    • Deletions and conversion in spinal muscular atrophy patients: is there a relationship to severity?
    • DiDonato C.J., Ingraham S.E., Mendell J.R., Prior T.W., Lenard S., Moxley R.T., et al. Deletions and conversion in spinal muscular atrophy patients: is there a relationship to severity?. Ann Neurol 1997, 41:230-237.
    • (1997) Ann Neurol , vol.41 , pp. 230-237
    • DiDonato, C.J.1    Ingraham, S.E.2    Mendell, J.R.3    Prior, T.W.4    Lenard, S.5    Moxley, R.T.6
  • 51
    • 0029819241 scopus 로고    scopus 로고
    • Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
    • van der Steege G., Grootscholten P.M., Cobben J.M., Zappata S., Scheffer H., den Dunnen J.T., et al. Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet 1996, 59:834-838.
    • (1996) Am J Hum Genet , vol.59 , pp. 834-838
    • van der Steege, G.1    Grootscholten, P.M.2    Cobben, J.M.3    Zappata, S.4    Scheffer, H.5    den Dunnen, J.T.6
  • 52
    • 0030818315 scopus 로고    scopus 로고
    • Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype
    • Campbell L., Potter A., Ignatius J., Dubowitz V., Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997, 61:40-50.
    • (1997) Am J Hum Genet , vol.61 , pp. 40-50
    • Campbell, L.1    Potter, A.2    Ignatius, J.3    Dubowitz, V.4    Davies, K.5
  • 53
    • 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 T.F., 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
  • 54
    • 64149093241 scopus 로고    scopus 로고
    • A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy
    • Arkblad E., Tulinius M., Kroksmark A.K., Henricsson M., Darin N. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr 2009, 98:865-872.
    • (2009) Acta Paediatr , vol.98 , pp. 865-872
    • Arkblad, E.1    Tulinius, M.2    Kroksmark, A.K.3    Henricsson, M.4    Darin, N.5
  • 55
    • 25144523447 scopus 로고    scopus 로고
    • [Quantitative analysis of SMN2 based on real-time PCR: correlation of clinical severity and SMN2 gene dosage]
    • Saito M., Chen Y., Mizuguchi M., Igarashi T. [Quantitative analysis of SMN2 based on real-time PCR: correlation of clinical severity and SMN2 gene dosage]. No To Hattatsu 2005, 37:407-412.
    • (2005) No To Hattatsu , vol.37 , pp. 407-412
    • Saito, M.1    Chen, Y.2    Mizuguchi, M.3    Igarashi, T.4
  • 56
    • 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-Schöneborn S., Berg C., Zerres K., Betzler C., Grimm T., Eggermann T., 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-Schöneborn, S.1    Berg, C.2    Zerres, K.3    Betzler, C.4    Grimm, T.5    Eggermann, T.6
  • 57
    • 4744368810 scopus 로고    scopus 로고
    • Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
    • Prior T.W., Swoboda K.J., Scott H.D., Hejmanowski A.Q. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A 2004, 130A:307-310.
    • (2004) Am J Med Genet A , vol.130A , pp. 307-310
    • Prior, T.W.1    Swoboda, K.J.2    Scott, H.D.3    Hejmanowski, A.Q.4
  • 58
    • 0034639645 scopus 로고    scopus 로고
    • The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
    • Monani U.R., Sendtner M., Coovert D.D., Parsons D.W., Andreassi C., Le T.T., et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 2000, 9:333-339.
    • (2000) Hum Mol Genet , vol.9 , pp. 333-339
    • Monani, U.R.1    Sendtner, M.2    Coovert, D.D.3    Parsons, D.W.4    Andreassi, C.5    Le, T.T.6
  • 60
    • 20144385587 scopus 로고    scopus 로고
    • SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
    • Le T.T., Pham L.T., Butchbach M.E., Zhang H.L., Monani U.R., Coovert D.D., et al. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 2005, 14:845-857.
    • (2005) Hum Mol Genet , vol.14 , pp. 845-857
    • Le, T.T.1    Pham, L.T.2    Butchbach, M.E.3    Zhang, H.L.4    Monani, U.R.5    Coovert, D.D.6
  • 62
    • 74049115526 scopus 로고    scopus 로고
    • A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
    • Vezain M., Saugier-Veber P., Goina E., Touraine R., Manel V., Toutain A., et al. A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Hum Mutat 2010, 31:E1110-E1125.
    • (2010) Hum Mutat , vol.31 , pp. E1110-E1125
    • Vezain, M.1    Saugier-Veber, P.2    Goina, E.3    Touraine, R.4    Manel, V.5    Toutain, A.6
  • 63
    • 77956105943 scopus 로고    scopus 로고
    • The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
    • Bernal S., Alias L., Barcelo M.J., Also-Rallo E., Martinez-Hernandez R., Gamez J., et al. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J Med Genet 2010, 47:640-642.
    • (2010) J Med Genet , vol.47 , pp. 640-642
    • Bernal, S.1    Alias, L.2    Barcelo, M.J.3    Also-Rallo, E.4    Martinez-Hernandez, R.5    Gamez, J.6
  • 64
  • 65
    • 0028785098 scopus 로고
    • Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals
    • Hahnen E., Forkert R., Marke C., Rudnik-Schoneborn S., Schonling J., Zerres K., et al. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995, 4:1927-1933.
    • (1995) Hum Mol Genet , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3    Rudnik-Schoneborn, S.4    Schonling, J.5    Zerres, K.6
  • 67
    • 42549088649 scopus 로고    scopus 로고
    • Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
    • Oprea G.E., Krober S., McWhorter M.L., Rossoll W., Muller S., Krawczak M., et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 2008, 320:524-527.
    • (2008) Science , vol.320 , pp. 524-527
    • Oprea, G.E.1    Krober, S.2    McWhorter, M.L.3    Rossoll, W.4    Muller, S.5    Krawczak, M.6
  • 68
    • 77957939276 scopus 로고    scopus 로고
    • Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females
    • Stratigopoulos G., Lanzano P., Deng L., Guo J., Kaufmann P., Darras B., et al. Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch Neurol 2010, 67:1252-1256.
    • (2010) Arch Neurol , vol.67 , pp. 1252-1256
    • Stratigopoulos, G.1    Lanzano, P.2    Deng, L.3    Guo, J.4    Kaufmann, P.5    Darras, B.6
  • 70
    • 84890898281 scopus 로고    scopus 로고
    • Spinal muscular atrophy: development and implementation of potential treatments
    • Arnold W.D., Burghes A.H. Spinal muscular atrophy: development and implementation of potential treatments. Ann Neurol 2013, 74:348-362.
    • (2013) Ann Neurol , vol.74 , pp. 348-362
    • Arnold, W.D.1    Burghes, A.H.2
  • 71
    • 77956639960 scopus 로고    scopus 로고
    • Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy
    • Bebee T.W., Gladman J.T., Chandler D.S. Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy. Front Biosci (Landmark Ed) 2010, 15:1191-1204.
    • (2010) Front Biosci (Landmark Ed) , vol.15 , pp. 1191-1204
    • Bebee, T.W.1    Gladman, J.T.2    Chandler, D.S.3
  • 72
    • 33646121056 scopus 로고    scopus 로고
    • SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials
    • Sumner C.J., Kolb S.J., Harmison G.G., Jeffries N.O., Schadt K., Finkel R.S., et al. SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology 2006, 66:1067-1073.
    • (2006) Neurology , vol.66 , pp. 1067-1073
    • Sumner, C.J.1    Kolb, S.J.2    Harmison, G.G.3    Jeffries, N.O.4    Schadt, K.5    Finkel, R.S.6
  • 73
    • 84867329095 scopus 로고
    • Spinal muscular atrophy.
    • In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. Seattle, WA: University of Washington, Seattle, Feb 24 [updated 2013 Nov 14].
    • Prior TW, Russman BS, Spinal muscular atrophy. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle, 1993-2000. Feb 24 [updated 2013 Nov 14].
    • (1993) GeneReviews [Internet].
    • Prior, T.W.1    Russman, B.S.2
  • 74
    • 0030985898 scopus 로고    scopus 로고
    • Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
    • McAndrew P.E., Parsons D.W., Simard L.R., Rochette C., Ray P.N., Mendell J.R., et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997, 60:1411-1422.
    • (1997) Am J Hum Genet , vol.60 , pp. 1411-1422
    • McAndrew, P.E.1    Parsons, D.W.2    Simard, L.R.3    Rochette, C.4    Ray, P.N.5    Mendell, J.R.6
  • 77
    • 18244407748 scopus 로고    scopus 로고
    • Natural history of denervation in SMA: relation to age, SMN2 copy number, and function
    • Swoboda K.J., Prior T.W., Scott C.B., McNaught T.P., Wride M.C., Reyna S.P., 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    McNaught, T.P.4    Wride, M.C.5    Reyna, S.P.6
  • 78
    • 66149090002 scopus 로고    scopus 로고
    • Spinal muscular atrophy
    • ACOG Committee opinion No.432 Spinal muscular atrophy. Obstet Gynecol 2009, 113:1194-1196.
    • (2009) Obstet Gynecol , vol.113 , pp. 1194-1196
  • 80
  • 81
    • 0029954338 scopus 로고    scopus 로고
    • A novel nuclear structure containing the survival of motor neurons protein
    • Liu Q., Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996, 15:3555-3565.
    • (1996) EMBO J , vol.15 , pp. 3555-3565
    • Liu, Q.1    Dreyfuss, G.2
  • 82
    • 33748186105 scopus 로고    scopus 로고
    • Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons
    • Zhang H., Xing L., Rossoll W., Wichterle H., Singer R.H., Bassell G.J. Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci 2006, 26:8622-8632.
    • (2006) J Neurosci , vol.26 , pp. 8622-8632
    • Zhang, H.1    Xing, L.2    Rossoll, W.3    Wichterle, H.4    Singer, R.H.5    Bassell, G.J.6
  • 83
    • 0035341214 scopus 로고    scopus 로고
    • SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome
    • Meister G., Hannus S., Plottner O., Baars T., Hartmann E., Fakan S., et al. SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome. EMBO J 2001, 20:2304-2314.
    • (2001) EMBO J , vol.20 , pp. 2304-2314
    • Meister, G.1    Hannus, S.2    Plottner, O.3    Baars, T.4    Hartmann, E.5    Fakan, S.6
  • 84
    • 2242443509 scopus 로고    scopus 로고
    • Essential role for the SMN complex in the specificity of snRNP assembly
    • Pellizzoni L., Yong J., Dreyfuss G. Essential role for the SMN complex in the specificity of snRNP assembly. Science 2002, 298:1775-1779.
    • (2002) Science , vol.298 , pp. 1775-1779
    • Pellizzoni, L.1    Yong, J.2    Dreyfuss, G.3
  • 85
  • 86
    • 34047148903 scopus 로고    scopus 로고
    • Chaperoning ribonucleoprotein biogenesis in health and disease
    • Pellizzoni L. Chaperoning ribonucleoprotein biogenesis in health and disease. EMBO Rep 2007, 8:340-345.
    • (2007) EMBO Rep , vol.8 , pp. 340-345
    • Pellizzoni, L.1
  • 87
    • 33846001366 scopus 로고    scopus 로고
    • The arginine methyltransferase CARM1 regulates the coupling of transcription and mRNA processing
    • Cheng D., Cote J., Shaaban S., Bedford M.T. The arginine methyltransferase CARM1 regulates the coupling of transcription and mRNA processing. Mol Cell 2007, 25:71-83.
    • (2007) Mol Cell , vol.25 , pp. 71-83
    • Cheng, D.1    Cote, J.2    Shaaban, S.3    Bedford, M.T.4
  • 88
    • 0345599021 scopus 로고    scopus 로고
    • Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons
    • Rossoll W., Jablonka S., Andreassi C., Kroning A.K., Karle K., Monani U.R., et al. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 2003, 163:801-812.
    • (2003) J Cell Biol , vol.163 , pp. 801-812
    • Rossoll, W.1    Jablonka, S.2    Andreassi, C.3    Kroning, A.K.4    Karle, K.5    Monani, U.R.6
  • 89
    • 34548164132 scopus 로고    scopus 로고
    • Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy
    • Beattie C.E., Carrel T.L., McWhorter M.L. Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy. J Child Neurol 2007, 22:995-1003.
    • (2007) J Child Neurol , vol.22 , pp. 995-1003
    • Beattie, C.E.1    Carrel, T.L.2    McWhorter, M.L.3
  • 90
    • 0042887389 scopus 로고    scopus 로고
    • Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
    • McWhorter M.L., Monani U.R., Burghes A.H., Beattie C.E. Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol 2003, 162:919-931.
    • (2003) J Cell Biol , vol.162 , pp. 919-931
    • McWhorter, M.L.1    Monani, U.R.2    Burghes, A.H.3    Beattie, C.E.4
  • 91
    • 84863011418 scopus 로고    scopus 로고
    • A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy
    • Ruggiu M., McGovern V.L., Lotti F., Saieva L., Li D.K., Kariya S., et al. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol 2012, 32:126-138.
    • (2012) Mol Cell Biol , vol.32 , pp. 126-138
    • Ruggiu, M.1    McGovern, V.L.2    Lotti, F.3    Saieva, L.4    Li, D.K.5    Kariya, S.6
  • 92
    • 84867555865 scopus 로고    scopus 로고
    • An SMN-dependent U12 splicing event essential for motor circuit function
    • Lotti F., Imlach W.L., Saieva L., Beck E.S., Hao le T., Li D.K., et al. An SMN-dependent U12 splicing event essential for motor circuit function. Cell 2012, 151:440-454.
    • (2012) Cell , vol.151 , pp. 440-454
    • Lotti, F.1    Imlach, W.L.2    Saieva, L.3    Beck, E.S.4    Hao le, T.5    Li, D.K.6
  • 94
    • 77957322783 scopus 로고    scopus 로고
    • Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing
    • Voigt T., Meyer K., Baum O., Schumperli D. Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing. Neuromuscul Disord 2010, 20:744-752.
    • (2010) Neuromuscul Disord , vol.20 , pp. 744-752
    • Voigt, T.1    Meyer, K.2    Baum, O.3    Schumperli, D.4
  • 96
    • 58849103600 scopus 로고    scopus 로고
    • Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
    • Kong L., Wang X., Choe D.W., Polley M., Burnett B.G., Bosch-Marce M., et al. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 2009, 29:842-851.
    • (2009) J Neurosci , vol.29 , pp. 842-851
    • Kong, L.1    Wang, X.2    Choe, D.W.3    Polley, M.4    Burnett, B.G.5    Bosch-Marce, M.6
  • 97
    • 70350754456 scopus 로고    scopus 로고
    • Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects
    • Boon K.L., Xiao S., McWhorter M.L., Donn T., Wolf-Saxon E., Bohnsack M.T., et al. Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects. Hum Mol Genet 2009, 18:3615-3625.
    • (2009) Hum Mol Genet , vol.18 , pp. 3615-3625
    • Boon, K.L.1    Xiao, S.2    McWhorter, M.L.3    Donn, T.4    Wolf-Saxon, E.5    Bohnsack, M.T.6
  • 98
    • 70249095607 scopus 로고    scopus 로고
    • Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes
    • Rossoll W., Bassell G.J. Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. Results Probl Cell Differ 2009, 48:289-326.
    • (2009) Results Probl Cell Differ , vol.48 , pp. 289-326
    • Rossoll, W.1    Bassell, G.J.2
  • 99
    • 48249145306 scopus 로고    scopus 로고
    • Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
    • Kariya S., Park G.H., Maeno-Hikichi Y., Leykekhman O., Lutz C., Arkovitz M.S., et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 2008, 17:2552-2569.
    • (2008) Hum Mol Genet , vol.17 , pp. 2552-2569
    • Kariya, S.1    Park, G.H.2    Maeno-Hikichi, Y.3    Leykekhman, O.4    Lutz, C.5    Arkovitz, M.S.6
  • 100
    • 84871257650 scopus 로고    scopus 로고
    • Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3
    • Wadman R.I., Vrancken A.F., van den Berg L.H., van der Pol W.L. Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3. Neurology 2012, 79:2050-2055.
    • (2012) Neurology , vol.79 , pp. 2050-2055
    • Wadman, R.I.1    Vrancken, A.F.2    van den Berg, L.H.3    van der Pol, W.L.4
  • 101
    • 0037304531 scopus 로고    scopus 로고
    • 93rd ENMC International Workshop: non-5q-spinal muscular atrophies (SMA)-clinical picture (6-8 April 2001, Naarden, the Netherlands)
    • Zerres K., Rudnik-Schöneborn S. 93rd ENMC International Workshop: non-5q-spinal muscular atrophies (SMA)-clinical picture (6-8 April 2001, Naarden, the Netherlands). Neuromuscul Disord 2003, 13:179-183.
    • (2003) Neuromuscul Disord , vol.13 , pp. 179-183
    • Zerres, K.1    Rudnik-Schöneborn, S.2
  • 102
    • 77955443964 scopus 로고    scopus 로고
    • Washington University, St. Louis, MO, [updated 21 Dec 2013; cited 27 Dec 2013]
    • Pestronk A. Hereditary motor syndromes 1996, Washington University, St. Louis, MO, [updated 21 Dec 2013; cited 27 Dec 2013]; Available from: .
    • (1996) Hereditary motor syndromes
    • Pestronk, A.1
  • 104
    • 34548022629 scopus 로고    scopus 로고
    • Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis
    • Guenther U.P., Varon R., Schlicke M., Dutrannoy V., Volk A., Hubner C., et al. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat 2007, 28:808-815.
    • (2007) Hum Mutat , vol.28 , pp. 808-815
    • Guenther, U.P.1    Varon, R.2    Schlicke, M.3    Dutrannoy, V.4    Volk, A.5    Hubner, C.6
  • 105
    • 84878653760 scopus 로고    scopus 로고
    • Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands
    • Stalpers X.L., Verrips A., Poll-The B.T., Cobben J.M., Snoeck I.N., de Coo I.F., et al. Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands. Neuromuscul Disord 2013, 23:461-468.
    • (2013) Neuromuscul Disord , vol.23 , pp. 461-468
    • Stalpers, X.L.1    Verrips, A.2    Poll-The, B.T.3    Cobben, J.M.4    Snoeck, I.N.5    de Coo, I.F.6
  • 107
    • 84870392607 scopus 로고    scopus 로고
    • Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study
    • Ciccolella M., Catteruccia M., Benedetti S., Moroni I., Uziel G., Pantaleoni C., et al. Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study. Neuromuscul Disord 2012, 22:1075-1082.
    • (2012) Neuromuscul Disord , vol.22 , pp. 1075-1082
    • Ciccolella, M.1    Catteruccia, M.2    Benedetti, S.3    Moroni, I.4    Uziel, G.5    Pantaleoni, C.6
  • 108
    • 79960175586 scopus 로고    scopus 로고
    • Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia
    • Namavar Y., Barth P.G., Poll-The B.T., Baas F. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis 2011, 6:50.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 50
    • Namavar, Y.1    Barth, P.G.2    Poll-The, B.T.3    Baas, F.4
  • 109
    • 68249087651 scopus 로고    scopus 로고
    • Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene
    • Renbaum P., Kellerman E., Jaron R., Geiger D., Segel R., Lee M., et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet 2009, 85:281-289.
    • (2009) Am J Hum Genet , vol.85 , pp. 281-289
    • Renbaum, P.1    Kellerman, E.2    Jaron, R.3    Geiger, D.4    Segel, R.5    Lee, M.6
  • 111
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 112
    • 38749120297 scopus 로고    scopus 로고
    • Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy
    • Ramser J., Ahearn M.E., Lenski C., Yariz K.O., Hellebrand H., von Rhein M., et al. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet 2008, 82:188-193.
    • (2008) Am J Hum Genet , vol.82 , pp. 188-193
    • Ramser, J.1    Ahearn, M.E.2    Lenski, C.3    Yariz, K.O.4    Hellebrand, H.5    von Rhein, M.6
  • 113
    • 84876078704 scopus 로고    scopus 로고
    • Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene
    • Dlamini N., Josifova D.J., Paine S.M., Wraige E., Pitt M., Murphy A.J., et al. Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. Neuromuscul Disord 2013, 23:391-398.
    • (2013) Neuromuscul Disord , vol.23 , pp. 391-398
    • Dlamini, N.1    Josifova, D.J.2    Paine, S.M.3    Wraige, E.4    Pitt, M.5    Murphy, A.J.6
  • 114
    • 85080012465 scopus 로고    scopus 로고
    • Washington University. Neuromuscular Disease Center [website].
    • Washington University. Neuromuscular Disease Center [website]. 2014. Available from: <>. http://neuromuscular.wustl.edu.
    • (2014)
  • 115
    • 85079962822 scopus 로고    scopus 로고
    • [website]
    • Johns Hopkins University School of Medicine. McKusick-Nathans Institute of Genetic Medicine. Online Mendelian Inheritance in Man (OMIM). [website]. 2014. Available from: <>. http://www.ncbi.nlm.nih.gov/omim.
    • (2014)
  • 116
    • 85079971961 scopus 로고    scopus 로고
    • GeneTests [website].
    • GeneTests [website]. 2014. Available from <>. http://www.genetests.org.
    • (2014)
  • 117
    • 13844309674 scopus 로고    scopus 로고
    • Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients
    • Neudorfer O., Pastores G.M., Zeng B.J., Gianutsos J., Zaroff C.M., Kolodny E.H. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 2005, 7:119-123.
    • (2005) Genet Med , vol.7 , pp. 119-123
    • Neudorfer, O.1    Pastores, G.M.2    Zeng, B.J.3    Gianutsos, J.4    Zaroff, C.M.5    Kolodny, E.H.6
  • 118
    • 0027733668 scopus 로고
    • Motor neuron diseases resulting from hexosaminidase deficiency
    • Johnson W.G. Motor neuron diseases resulting from hexosaminidase deficiency. Semin Neurol 1993, 13:369-374.
    • (1993) Semin Neurol , vol.13 , pp. 369-374
    • Johnson, W.G.1
  • 120
    • 0001401756 scopus 로고
    • Juvenile muscular atrophy of unilateral upper extremity: a new clinical entity
    • Hirayama K., Toyokura Y., Tsubaki T. Juvenile muscular atrophy of unilateral upper extremity: a new clinical entity. Psychiatr Neurol Jpn 1959, 61:2190-2197.
    • (1959) Psychiatr Neurol Jpn , vol.61 , pp. 2190-2197
    • Hirayama, K.1    Toyokura, Y.2    Tsubaki, T.3
  • 121
    • 0015471375 scopus 로고
    • Juvenile non-progressive muscular atrophy localized in hand and forearm: observation in 38 cases
    • Hirayama K. Juvenile non-progressive muscular atrophy localized in hand and forearm: observation in 38 cases. Clin Neurol (Tokyo) 1972, 12:313-324.
    • (1972) Clin Neurol (Tokyo) , vol.12 , pp. 313-324
    • Hirayama, K.1
  • 122
    • 17644397793 scopus 로고    scopus 로고
    • Juvenile muscular atrophy of distal upper extremity (Hirayama's disease)
    • Butterworth-Heinemann, Philadelphia, H.R.J. Jones, D.C. De Vivo, B.T. Darras (Eds.), 1st ed.
    • Kikuchi S., Tashiro K. Juvenile muscular atrophy of distal upper extremity (Hirayama's disease). Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach 2003, Butterworth-Heinemann, Philadelphia, 167-81. 1st ed. H.R.J. Jones, D.C. De Vivo, B.T. Darras (Eds.).
    • (2003) Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach , pp. 167-181
    • Kikuchi, S.1    Tashiro, K.2
  • 123
    • 0001596952 scopus 로고
    • Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease)
    • Elsevier, Amsterdam, P.J. Vinken, G.W. Bruyn, H.L. Klawans (Eds.)
    • Hirayama K. Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease). Diseases of the Motor System; Handbook of Clinical Neurology 1991, Elsevier, Amsterdam, 107-20. P.J. Vinken, G.W. Bruyn, H.L. Klawans (Eds.).
    • (1991) Diseases of the Motor System; Handbook of Clinical Neurology , pp. 107-120
    • Hirayama, K.1
  • 124
    • 84864241724 scopus 로고    scopus 로고
    • Neuroelectrophysiological characteristics of Hirayama disease: report of 14 cases
    • Guo X.M., Qin X.Y., Huang C. Neuroelectrophysiological characteristics of Hirayama disease: report of 14 cases. Chin Med J (Engl) 2012, 125:2440-2443.
    • (2012) Chin Med J (Engl) , vol.125 , pp. 2440-2443
    • Guo, X.M.1    Qin, X.Y.2    Huang, C.3
  • 126
    • 0023323164 scopus 로고
    • [A mechanism of juvenile muscular atrophy localized in the hand and forearm (Hirayama's disease)-flexion myelopathy with tight dural canal in flexion]
    • Kikuchi S., Tashiro K., Kitagawa M., Iwasaki Y., Abe H. [A mechanism of juvenile muscular atrophy localized in the hand and forearm (Hirayama's disease)-flexion myelopathy with tight dural canal in flexion]. Rinsho Shinkeigaku 1987, 27:412-419.
    • (1987) Rinsho Shinkeigaku , vol.27 , pp. 412-419
    • Kikuchi, S.1    Tashiro, K.2    Kitagawa, M.3    Iwasaki, Y.4    Abe, H.5
  • 127
    • 0023196652 scopus 로고
    • Cervical flexion myelopathy: a "tight dural canal mechanism." Case report
    • Iwasaki Y., Tashiro K., Kikuchi S., Kitagawa M., Isu T., Abe H. Cervical flexion myelopathy: a "tight dural canal mechanism." Case report. J Neurosurg 1987, 66:935-937.
    • (1987) J Neurosurg , vol.66 , pp. 935-937
    • Iwasaki, Y.1    Tashiro, K.2    Kikuchi, S.3    Kitagawa, M.4    Isu, T.5    Abe, H.6
  • 129
    • 0023117121 scopus 로고
    • Focal cervical poliopathy causing juvenile muscular atrophy of distal upper extremity: a pathological study
    • Hirayama K., Tomonaga M., Kitano K., Yamada T., Kojima S., Arai K. Focal cervical poliopathy causing juvenile muscular atrophy of distal upper extremity: a pathological study. J Neurol Neurosurg Psychiatry 1987, 50:285-290.
    • (1987) J Neurol Neurosurg Psychiatry , vol.50 , pp. 285-290
    • Hirayama, K.1    Tomonaga, M.2    Kitano, K.3    Yamada, T.4    Kojima, S.5    Arai, K.6
  • 130
    • 0033781378 scopus 로고    scopus 로고
    • Juvenile muscular atrophy of distal upper extremity (Hirayama disease): focal cervical ischemic poliomyelopathy
    • Hirayama K. Juvenile muscular atrophy of distal upper extremity (Hirayama disease): focal cervical ischemic poliomyelopathy. Neuropathology 2000, 20(Suppl):S91-S94.
    • (2000) Neuropathology , vol.20 , Issue.SUPPL , pp. S91-S94
    • Hirayama, K.1
  • 131
    • 67649774524 scopus 로고    scopus 로고
    • Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family
    • Andreadou E, Christodoulou K, Manta P, Karandreas N, Loukaidis P, Sfagos C, et al. Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family. Neurologist 2009, 15:156-160.
    • (2009) Neurologist , vol.15 , pp. 156-160
    • Andreadou, E.1    Christodoulou, K.2    Manta, P.3    Karandreas, N.4    Loukaidis, P.5    Sfagos, C.6
  • 132
    • 84893340158 scopus 로고    scopus 로고
    • A severe case of Hirayama disease successfully treated by anterior cervical fusion
    • Paredes I., Esteban J., Ramos A., Gonzalez P., Rivas J.J. A severe case of Hirayama disease successfully treated by anterior cervical fusion. J Neurosurg Spine 2013, 20:191-195.
    • (2013) J Neurosurg Spine , vol.20 , pp. 191-195
    • Paredes, I.1    Esteban, J.2    Ramos, A.3    Gonzalez, P.4    Rivas, J.J.5
  • 135
    • 84872193657 scopus 로고    scopus 로고
    • Hirayama disease: a frequently undiagnosed condition with simple inexpensive treatment
    • ID: 23220833
    • Verma R, Lalla R, Patil TB, Gupta A. Hirayama disease: a frequently undiagnosed condition with simple inexpensive treatment. BMJ Case Rep 2012, 2012. ID: 23220833.
    • (2012) BMJ Case Rep , pp. 2012
    • Verma, R.1    Lalla, R.2    Patil, T.B.3    Gupta, A.4
  • 136
    • 84890901142 scopus 로고    scopus 로고
    • Neurodegeneration in spinal muscular atrophy: From disease phenotype and animal models to therapeutic strategies and beyond
    • Monani U.R., De Vivo D.C. Neurodegeneration in spinal muscular atrophy: From disease phenotype and animal models to therapeutic strategies and beyond. Future Neurol 2014, 9:49-65.
    • (2014) Future Neurol , vol.9 , pp. 49-65
    • Monani, U.R.1    De Vivo, D.C.2
  • 137
    • 0030130574 scopus 로고    scopus 로고
    • The neurobiology of childhood spinal muscular atrophy
    • Crawford T.O., Pardo C.A. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 1996, 3:97-110.
    • (1996) Neurobiol Dis , vol.3 , pp. 97-110
    • Crawford, T.O.1    Pardo, C.A.2
  • 138
  • 140
    • 36248963510 scopus 로고    scopus 로고
    • A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy
    • Nadeau A., D'Anjou G., Debray G., Robitaille Y., Simard L.R., Vanasse M. A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. J Child Neurol 2007, 22:1301-1304.
    • (2007) J Child Neurol , vol.22 , pp. 1301-1304
    • Nadeau, A.1    D'Anjou, G.2    Debray, G.3    Robitaille, Y.4    Simard, L.R.5    Vanasse, M.6
  • 142
    • 34548157546 scopus 로고    scopus 로고
    • Animal models of spinal muscular atrophy
    • Schmid A., DiDonato C.J. Animal models of spinal muscular atrophy. J Child Neurol 2007, 22:1004-1012.
    • (2007) J Child Neurol , vol.22 , pp. 1004-1012
    • Schmid, A.1    DiDonato, C.J.2
  • 143
    • 77956603926 scopus 로고    scopus 로고
    • Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene
    • Park G.H., Maeno-Hikichi Y., Awano T., Landmesser L.T., Monani U.R. Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci 2010, 30:12005-12019.
    • (2010) J Neurosci , vol.30 , pp. 12005-12019
    • Park, G.H.1    Maeno-Hikichi, Y.2    Awano, T.3    Landmesser, L.T.4    Monani, U.R.5
  • 144
    • 78649723966 scopus 로고    scopus 로고
    • Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy
    • Ling K.K., Lin M.Y., Zingg B., Feng Z., Ko C.P. Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. PLOS ONE 2010, 5:e15457.
    • (2010) PLOS ONE , vol.5 , pp. e15457
    • Ling, K.K.1    Lin, M.Y.2    Zingg, B.3    Feng, Z.4    Ko, C.P.5
  • 145
    • 79551663958 scopus 로고    scopus 로고
    • Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy
    • Mentis G.Z., Blivis D., Liu W., Drobac E., Crowder M.E., Kong L. Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron 2011, 69:453-467.
    • (2011) Neuron , vol.69 , pp. 453-467
    • Mentis, G.Z.1    Blivis, D.2    Liu, W.3    Drobac, E.4    Crowder, M.E.5    Kong, L.6
  • 146
    • 77957878494 scopus 로고    scopus 로고
    • SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy
    • Wishart T.M., Huang J.P., Murray L.M., Lamont D.J., Mutsaers C.A., Ross J., et al. SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Hum Mol Genet 2010, 19:4216-4228.
    • (2010) Hum Mol Genet , vol.19 , pp. 4216-4228
    • Wishart, T.M.1    Huang, J.P.2    Murray, L.M.3    Lamont, D.J.4    Mutsaers, C.A.5    Ross, J.6
  • 148
    • 84862883258 scopus 로고    scopus 로고
    • Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy
    • Martinez T.L., Kong L., Wang X., Osborne M.A., Crowder M.E., Van Meerbeke J.P., et al. Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J Neurosci 2012, 32:8703-8715.
    • (2012) J Neurosci , vol.32 , pp. 8703-8715
    • Martinez, T.L.1    Kong, L.2    Wang, X.3    Osborne, M.A.4    Crowder, M.E.5    Van Meerbeke, J.P.6
  • 149
    • 84858054407 scopus 로고    scopus 로고
    • Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction
    • Gogliotti R.G., Quinlan K.A., Barlow C.B., Heier C.R., Heckman C.J., Didonato C.J. Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci 2012, 32:3818-3829.
    • (2012) J Neurosci , vol.32 , pp. 3818-3829
    • Gogliotti, R.G.1    Quinlan, K.A.2    Barlow, C.B.3    Heier, C.R.4    Heckman, C.J.5    Didonato, C.J.6
  • 150
    • 84866934033 scopus 로고    scopus 로고
    • Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy
    • Lee A.J., Awano T., Park G.H., Monani U.R. Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLOS ONE 2012, 7:e46353.
    • (2012) PLOS ONE , vol.7 , pp. e46353
    • Lee, A.J.1    Awano, T.2    Park, G.H.3    Monani, U.R.4
  • 151
    • 41849090089 scopus 로고    scopus 로고
    • Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
    • Gavrilina T.O., McGovern V.L., Workman E., Crawford T.O., Gogliotti R.G., DiDonato C.J., et al. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet 2008, 17:1063-1075.
    • (2008) Hum Mol Genet , vol.17 , pp. 1063-1075
    • Gavrilina, T.O.1    McGovern, V.L.2    Workman, E.3    Crawford, T.O.4    Gogliotti, R.G.5    DiDonato, C.J.6
  • 153
    • 79960987691 scopus 로고    scopus 로고
    • Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy
    • Lutz C.M., Kariya S., Patruni S., Osborne M.A., Liu D., Henderson C.E., et al. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest 2011, 121:3029-3041.
    • (2011) J Clin Invest , vol.121 , pp. 3029-3041
    • Lutz, C.M.1    Kariya, S.2    Patruni, S.3    Osborne, M.A.4    Liu, D.5    Henderson, C.E.6
  • 154
    • 84893819754 scopus 로고    scopus 로고
    • Requirement of enhanced survival motor neuron protein imposed during neuromuscular junction maturation
    • Kariya S., Obis T., Garone C., Akay T., Sera F., Iwata S., et al. Requirement of enhanced survival motor neuron protein imposed during neuromuscular junction maturation. J Clin Invest 2014, 124:785-800.
    • (2014) J Clin Invest , vol.124 , pp. 785-800
    • Kariya, S.1    Obis, T.2    Garone, C.3    Akay, T.4    Sera, F.5    Iwata, S.6
  • 155
    • 84555218229 scopus 로고    scopus 로고
    • Spinal muscular atrophy: a clinical and research update
    • Markowitz J.A., Singh P., Darras B.T. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol 2012, 46:1-12.
    • (2012) Pediatr Neurol , vol.46 , pp. 1-12
    • Markowitz, J.A.1    Singh, P.2    Darras, B.T.3
  • 156
    • 79958724642 scopus 로고    scopus 로고
    • Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year
    • Kaufmann P., McDermott M.P., Darras B.T., Finkel R., Kang P., Oskoui M., 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    Finkel, R.4    Kang, P.5    Oskoui, M.6
  • 158
    • 4344647889 scopus 로고    scopus 로고
    • Concerns about the design of clinical trials for spinal muscular atrophy
    • Crawford T.O. Concerns about the design of clinical trials for spinal muscular atrophy. Neuromuscul Disord 2004, 14:456-460.
    • (2004) Neuromuscul Disord , vol.14 , pp. 456-460
    • Crawford, T.O.1
  • 160
    • 77950521387 scopus 로고    scopus 로고
    • The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability
    • Glanzman A.M., Mazzone E., Main M., Pelliccioni M., Wood J., Swoboda K.J., et al. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord 2010, 20:155-161.
    • (2010) Neuromuscul Disord , vol.20 , pp. 155-161
    • Glanzman, A.M.1    Mazzone, E.2    Main, M.3    Pelliccioni, M.4    Wood, J.5    Swoboda, K.J.6
  • 161
    • 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 L.S., Iannaccone S.T. 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
  • 162
    • 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
  • 163
    • 33746355222 scopus 로고    scopus 로고
    • A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy
    • Krosschell K.J., Maczulski J.A., Crawford T.O., Scott C., Swoboda K.J. 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
  • 166
    • 58149516736 scopus 로고    scopus 로고
    • Correlation of survival motor neuron expression in leukocytes and spinal cord in spinal muscular atrophy
    • Tsai L.K., Yang C.C., Ting C.H., Su Y.N., Hwu W.L., Li H. Correlation of survival motor neuron expression in leukocytes and spinal cord in spinal muscular atrophy. J Pediatr 2009, 154:303-305.
    • (2009) J Pediatr , vol.154 , pp. 303-305
    • Tsai, L.K.1    Yang, C.C.2    Ting, C.H.3    Su, Y.N.4    Hwu, W.L.5    Li, H.6
  • 167
    • 77449106557 scopus 로고    scopus 로고
    • SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
    • Tiziano F.D., Pinto A.M., Fiori S., Lomastro R., Messina S., Bruno C., 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    Lomastro, R.4    Messina, S.5    Bruno, C.6
  • 168
    • 36349023761 scopus 로고    scopus 로고
    • Clinical trials in spinal muscular atrophy
    • Darras B.T., Kang P.B. Clinical trials in spinal muscular atrophy. Curr Opin Pediatr 2007, 19:675-679.
    • (2007) Curr Opin Pediatr , vol.19 , pp. 675-679
    • Darras, B.T.1    Kang, P.B.2
  • 169
    • 84888132737 scopus 로고    scopus 로고
    • Current advances in drug development in spinal muscular atrophy
    • Singh P., Liew W.K., Darras B.T. Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr 2013, 25:682-688.
    • (2013) Curr Opin Pediatr , vol.25 , pp. 682-688
    • Singh, P.1    Liew, W.K.2    Darras, B.T.3
  • 170
    • 65949122541 scopus 로고    scopus 로고
    • The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy
    • Lunke S., El-Osta A. The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy. J Neurochem 2009, 109:1557-1569.
    • (2009) J Neurochem , vol.109 , pp. 1557-1569
    • Lunke, S.1    El-Osta, A.2
  • 172
  • 173
    • 13544258982 scopus 로고    scopus 로고
    • Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
    • Brahe C., Vitali T., Tiziano F.D., Angelozzi C., Pinto A.M., Borgo F., et al. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 2005, 13:256-259.
    • (2005) Eur J Hum Genet , vol.13 , pp. 256-259
    • Brahe, C.1    Vitali, T.2    Tiziano, F.D.3    Angelozzi, C.4    Pinto, A.M.5    Borgo, F.6
  • 175
    • 33846114574 scopus 로고    scopus 로고
    • Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
    • Mercuri E., Bertini E., Messina S., Solari A., D'Amico A., Angelozzi C., 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    Solari, A.4    D'Amico, A.5    Angelozzi, C.6
  • 177
    • 0141506887 scopus 로고    scopus 로고
    • Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy
    • Brichta L., Hofmann Y., Hahnen E., Siebzehnrubl F.A., Raschke H., Blumcke I., et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 2003, 12:2481-2489.
    • (2003) Hum Mol Genet , vol.12 , pp. 2481-2489
    • Brichta, L.1    Hofmann, Y.2    Hahnen, E.3    Siebzehnrubl, F.A.4    Raschke, H.5    Blumcke, I.6
  • 179
    • 77957929588 scopus 로고    scopus 로고
    • SMA CARNI-VAL 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, Simard LR, Reyna SP, Krosschell KJ, et al. SMA CARNI-VAL 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 , pp. e12140
    • Swoboda, K.J.1    Scott, C.B.2    Crawford, T.O.3    Simard, L.R.4    Reyna, S.P.5    Krosschell, K.J.6
  • 180
    • 23244458683 scopus 로고    scopus 로고
    • Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
    • Grzeschik S.M., Ganta M., Prior T.W., Heavlin W.D., Wang C.H. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol 2005, 58:194-202.
    • (2005) Ann Neurol , vol.58 , pp. 194-202
    • Grzeschik, S.M.1    Ganta, M.2    Prior, T.W.3    Heavlin, W.D.4    Wang, C.H.5
  • 181
    • 40849083780 scopus 로고    scopus 로고
    • The effect of hydroxyurea in spinal muscular atrophy cells and patients
    • Liang W.C., Yuo C.Y., Chang J.G., Chen Y.C., Chang Y.F., Wang H.Y., et al. The effect of hydroxyurea in spinal muscular atrophy cells and patients. J Neurol Sci 2008, 268:87-94.
    • (2008) J Neurol Sci , vol.268 , pp. 87-94
    • Liang, W.C.1    Yuo, C.Y.2    Chang, J.G.3    Chen, Y.C.4    Chang, Y.F.5    Wang, H.Y.6
  • 182
    • 79951549405 scopus 로고    scopus 로고
    • Hydroxyurea enhances SMN2 gene expression through nitric oxide release
    • Xu C., Chen X., Grzeschik S.M., Ganta M., Wang C.H. Hydroxyurea enhances SMN2 gene expression through nitric oxide release. Neurogenetics 2011, 12:19-24.
    • (2011) Neurogenetics , vol.12 , pp. 19-24
    • Xu, C.1    Chen, X.2    Grzeschik, S.M.3    Ganta, M.4    Wang, C.H.5
  • 183
    • 78650809695 scopus 로고    scopus 로고
    • Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy
    • Chen T.H., Chang J.G., Yang Y.H., Mai H.H., Liang W.C., Wu Y.C., et al. Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy. Neurology 2010, 75:2190-2197.
    • (2010) Neurology , vol.75 , pp. 2190-2197
    • Chen, T.H.1    Chang, J.G.2    Yang, Y.H.3    Mai, H.H.4    Liang, W.C.5    Wu, Y.C.6
  • 186
    • 38349090169 scopus 로고    scopus 로고
    • Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
    • Angelozzi C., Borgo F., Tiziano F.D., Martella A., Neri G., Brahe C. Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. J Med Genet 2008, 45:29-31.
    • (2008) J Med Genet , vol.45 , pp. 29-31
    • Angelozzi, C.1    Borgo, F.2    Tiziano, F.D.3    Martella, A.4    Neri, G.5    Brahe, C.6
  • 187
    • 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 F.D., Lomastro R., Pinto A.M., Messina S., D'Amico A., Fiori S., 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 2010, 47:856-858.
    • (2010) J Med Genet , vol.47 , pp. 856-858
    • Tiziano, F.D.1    Lomastro, R.2    Pinto, A.M.3    Messina, S.4    D'Amico, A.5    Fiori, S.6
  • 188
    • 77949889553 scopus 로고    scopus 로고
    • Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
    • Butchbach M.E., Singh J., Thorsteinsdottir M., Saieva L., Slominski E., Thurmond J., et al. Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet 2010, 19:454-467.
    • (2010) Hum Mol Genet , vol.19 , pp. 454-467
    • Butchbach, M.E.1    Singh, J.2    Thorsteinsdottir, M.3    Saieva, L.4    Slominski, E.5    Thurmond, J.6
  • 189
    • 84929966209 scopus 로고    scopus 로고
    • The therapeutic effects of RG3039 in severe spinal muscular atrophy mice and normal human volunteers [abstract]
    • Van Meerbeke J., Gibbs R., Plasterer H., Feng Z., Lin M., Wee C., et al. The therapeutic effects of RG3039 in severe spinal muscular atrophy mice and normal human volunteers [abstract]. Neurology 2012, 78(S25):003.
    • (2012) Neurology , vol.78 , pp. 003
    • Van Meerbeke, J.1    Gibbs, R.2    Plasterer, H.3    Feng, Z.4    Lin, M.5    Wee, C.6
  • 190
    • 70350749543 scopus 로고    scopus 로고
    • 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
    • Garbes L., Riessland M., Holker I., Heller R., Hauke J., Trankle C., et al. LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Hum Mol Genet 2009, 18:3645-3658.
    • (2009) Hum Mol Genet , vol.18 , pp. 3645-3658
    • Garbes, L.1    Riessland, M.2    Holker, I.3    Heller, R.4    Hauke, J.5    Trankle, C.6
  • 191
    • 34047124905 scopus 로고    scopus 로고
    • Stat5 constitutive activation rescues defects in spinal muscular atrophy
    • Ting C.H., Lin C.W., Wen S.L., Hsieh-Li H.M., Li H. Stat5 constitutive activation rescues defects in spinal muscular atrophy. Hum Mol Genet 2007, 16:499-514.
    • (2007) Hum Mol Genet , vol.16 , pp. 499-514
    • Ting, C.H.1    Lin, C.W.2    Wen, S.L.3    Hsieh-Li, H.M.4    Li, H.5
  • 192
    • 79960985352 scopus 로고    scopus 로고
    • Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway
    • Farooq F., Molina F.A., Hadwen J., MacKenzie D., Witherspoon L., Osmond M., et al. Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. J Clin Invest 2011, 121:3042-3050.
    • (2011) J Clin Invest , vol.121 , pp. 3042-3050
    • Farooq, F.1    Molina, F.A.2    Hadwen, J.3    MacKenzie, D.4    Witherspoon, L.5    Osmond, M.6
  • 193
    • 77956130809 scopus 로고    scopus 로고
    • In vivo NMDA receptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice
    • Biondi O., Branchu J., Sanchez G., Lancelin C., Deforges S., Lopes P., et al. In vivo NMDA receptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice. J Neurosci 2010, 30:11288-11299.
    • (2010) J Neurosci , vol.30 , pp. 11288-11299
    • Biondi, O.1    Branchu, J.2    Sanchez, G.3    Lancelin, C.4    Deforges, S.5    Lopes, P.6
  • 194
    • 18144431041 scopus 로고    scopus 로고
    • A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels
    • Wolstencroft E.C., Mattis V., Bajer A.A., Young P.J., Lorson C.L. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels. Hum Mol Genet 2005, 14:1199-1210.
    • (2005) Hum Mol Genet , vol.14 , pp. 1199-1210
    • Wolstencroft, E.C.1    Mattis, V.2    Bajer, A.A.3    Young, P.J.4    Lorson, C.L.5
  • 195
    • 63149153320 scopus 로고    scopus 로고
    • Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo
    • Heier C.R., DiDonato C.J. Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet 2009, 18:1310-1322.
    • (2009) Hum Mol Genet , vol.18 , pp. 1310-1322
    • Heier, C.R.1    DiDonato, C.J.2
  • 197
    • 0344896685 scopus 로고    scopus 로고
    • A phase 1 trial of riluzole in spinal muscular atrophy
    • Russman B.S., Iannaccone S.T., Samaha F.J. A phase 1 trial of riluzole in spinal muscular atrophy. Arch Neurol 2003, 60:1601-1603.
    • (2003) Arch Neurol , vol.60 , pp. 1601-1603
    • Russman, B.S.1    Iannaccone, S.T.2    Samaha, F.J.3
  • 199
    • 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., Bertini E., Minetti C., Mongini T., 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    Bertini, E.4    Minetti, C.5    Mongini, T.6
  • 200
    • 84929964885 scopus 로고    scopus 로고
    • Trophos completes patient enrollment in pivotal efficacy study of olesoxime in spinal muscular atrophy.
    • [updated 8 Sep 2011; cited Jan 4 2014]
    • Lloyd A, Hunter N. Trophos completes patient enrollment in pivotal efficacy study of olesoxime in spinal muscular atrophy. Trophos; 2011 [updated 8 Sep 2011; cited Jan 4 2014]; Available from: <>. http://www.trophos.com/news/pr20110908.htm.
    • (2011) Trophos
    • Lloyd, A.1    Hunter, N.2
  • 201
    • 77955874022 scopus 로고    scopus 로고
    • Antisense oligonucleotides and spinal muscular atrophy: skipping along
    • Burghes A.H., McGovern V.L. Antisense oligonucleotides and spinal muscular atrophy: skipping along. Genes Dev 2010, 24:1574-1579.
    • (2010) Genes Dev , vol.24 , pp. 1574-1579
    • Burghes, A.H.1    McGovern, V.L.2
  • 202
    • 41549168514 scopus 로고    scopus 로고
    • Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
    • Hua Y., Vickers T.A., Okunola H.L., Bennett C.F., Krainer A.R. Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet 2008, 82:834-848.
    • (2008) Am J Hum Genet , vol.82 , pp. 834-848
    • Hua, Y.1    Vickers, T.A.2    Okunola, H.L.3    Bennett, C.F.4    Krainer, A.R.5
  • 203
    • 67650480122 scopus 로고    scopus 로고
    • A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
    • Singh N.N., Shishimorova M., Cao L.C., Gangwani L., Singh R.N. A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy. RNA Biol 2009, 6:341-350.
    • (2009) RNA Biol , vol.6 , pp. 341-350
    • Singh, N.N.1    Shishimorova, M.2    Cao, L.C.3    Gangwani, L.4    Singh, R.N.5
  • 204
    • 77955894067 scopus 로고    scopus 로고
    • Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
    • Hua Y., Sahashi K., Hung G., Rigo F., Passini M.A., Bennett C.F., et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev 2010, 24:1634-1644.
    • (2010) Genes Dev , vol.24 , pp. 1634-1644
    • Hua, Y.1    Sahashi, K.2    Hung, G.3    Rigo, F.4    Passini, M.A.5    Bennett, C.F.6
  • 205
    • 67449135902 scopus 로고    scopus 로고
    • Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy
    • Williams J.H., Schray R.C., Patterson C.A., Ayitey S.O., Tallent M.K., Lutz G.J. Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci 2009, 29:7633-7638.
    • (2009) J Neurosci , vol.29 , pp. 7633-7638
    • Williams, J.H.1    Schray, R.C.2    Patterson, C.A.3    Ayitey, S.O.4    Tallent, M.K.5    Lutz, G.J.6
  • 206
    • 77249088647 scopus 로고    scopus 로고
    • Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice
    • Corti S., Nizzardo M., Nardini M., Donadoni C., Salani S., Ronchi D., et al. Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain 2010, 133:465-481.
    • (2010) Brain , vol.133 , pp. 465-481
    • Corti, S.1    Nizzardo, M.2    Nardini, M.3    Donadoni, C.4    Salani, S.5    Ronchi, D.6
  • 207
    • 58249110796 scopus 로고    scopus 로고
    • Induced pluripotent stem cells from a spinal muscular atrophy patient
    • Ebert A.D., Yu J., Rose F.F., Mattis V.B., Lorson C.L., Thomson J.A., et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009, 457:277-280.
    • (2009) Nature , vol.457 , pp. 277-280
    • Ebert, A.D.1    Yu, J.2    Rose, F.F.3    Mattis, V.B.4    Lorson, C.L.5    Thomson, J.A.6
  • 208
    • 77749249680 scopus 로고    scopus 로고
    • Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
    • Foust K.D., Wang X., McGovern V.L., Braun L., Bevan A.K., Haidet A.M., et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol 2010, 28:271-274.
    • (2010) Nat Biotechnol , vol.28 , pp. 271-274
    • Foust, K.D.1    Wang, X.2    McGovern, V.L.3    Braun, L.4    Bevan, A.K.5    Haidet, A.M.6
  • 209
    • 77951201412 scopus 로고    scopus 로고
    • CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
    • Passini M.A., Bu J., Roskelley E.M., Richards A.M., Sardi S.P., O'Riordan C.R., et al. CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest 2010, 120:1253-1264.
    • (2010) J Clin Invest , vol.120 , pp. 1253-1264
    • Passini, M.A.1    Bu, J.2    Roskelley, E.M.3    Richards, A.M.4    Sardi, S.P.5    O'Riordan, C.R.6
  • 210
    • 77955602597 scopus 로고    scopus 로고
    • Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy
    • Valori C.F., Ning K., Wyles M., Mead R.J., Grierson A.J., Shaw P.J., et al. Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy. Sci Transl Med 2010, 2. 35ra42.
    • (2010) Sci Transl Med , vol.2 , pp. 35-42
    • Valori, C.F.1    Ning, K.2    Wyles, M.3    Mead, R.J.4    Grierson, A.J.5    Shaw, P.J.6
  • 212
    • 67649861393 scopus 로고    scopus 로고
    • Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons
    • Duque S., Joussemet B., Riviere C., Marais T., Dubreil L., Douar A.M., et al. Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons. Mol Ther 2009, 17:1187-1196.
    • (2009) Mol Ther , vol.17 , pp. 1187-1196
    • Duque, S.1    Joussemet, B.2    Riviere, C.3    Marais, T.4    Dubreil, L.5    Douar, A.M.6
  • 213
    • 80955157880 scopus 로고    scopus 로고
    • Stem cell transplantation for motor neuron disease: current approaches and future perspectives
    • Gowing G., Svendsen C.N. Stem cell transplantation for motor neuron disease: current approaches and future perspectives. Neurotherapeutics 2011, 8:591-606.
    • (2011) Neurotherapeutics , vol.8 , pp. 591-606
    • Gowing, G.1    Svendsen, C.N.2
  • 214
    • 34548178795 scopus 로고    scopus 로고
    • Modern management of spinal muscular atrophy
    • Iannaccone S.T. Modern management of spinal muscular atrophy. J Child Neurol 2007, 22:974-978.
    • (2007) J Child Neurol , vol.22 , pp. 974-978
    • Iannaccone, S.T.1
  • 215
    • 65649150062 scopus 로고    scopus 로고
    • Special considerations in the respiratory management of spinal muscular atrophy
    • Schroth M.K. Special considerations in the respiratory management of spinal muscular atrophy. Pediatrics 2009, 123(Suppl. 4):S245-S249.
    • (2009) Pediatrics , vol.123 , pp. S245-S249
    • Schroth, M.K.1
  • 217
    • 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
  • 218
    • 55649121614 scopus 로고    scopus 로고
    • Early laparoscopic fundoplication and gastrostomy in infants with spinal muscular atrophy type I
    • Durkin E.T., Schroth M.K., Helin M., Shaaban A.F. Early laparoscopic fundoplication and gastrostomy in infants with spinal muscular atrophy type I. J Pediatr Surg 2008, 43:2031-2037.
    • (2008) J Pediatr Surg , vol.43 , pp. 2031-2037
    • Durkin, E.T.1    Schroth, M.K.2    Helin, M.3    Shaaban, A.F.4
  • 219
    • 34447124947 scopus 로고    scopus 로고
    • Laparoscopic Nissen fundoplication during gastrostomy tube placement and noninvasive ventilation may improve survival in type I and severe type II spinal muscular atrophy
    • Yuan N., Wang C.H., Trela A., Albanese C.T. Laparoscopic Nissen fundoplication during gastrostomy tube placement and noninvasive ventilation may improve survival in type I and severe type II spinal muscular atrophy. J Child Neurol 2007, 22:727-731.
    • (2007) J Child Neurol , vol.22 , pp. 727-731
    • Yuan, N.1    Wang, C.H.2    Trela, A.3    Albanese, C.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.