메뉴 건너뛰기




Volumn 3, Issue MAR, 2016, Pages

Copy number variations in the survival motor neuron genes: Implications for spinal muscular atrophy and other neurodegenerative diseases

Author keywords

Amyotrophic lateral sclerosis; Copy number variation; Neurodegenerative disease; Progressive muscular atrophy; SMN1; SMN2; Spinal muscular atrophy

Indexed keywords


EID: 85002959925     PISSN: None     EISSN: 2296889X     Source Type: Journal    
DOI: 10.3389/fmolb.2016.00007     Document Type: Review
Times cited : (137)

References (158)
  • 1
    • 84862885719 scopus 로고    scopus 로고
    • Accuracy of marker analysis, quantitative real-time polymerase chain reaction and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy
    • Alías, L., Bernal, S., Barceló, M. J., Also-Rallo, E., Martínez-Hernández, R., Rodríguez-Alvarez, F. J., et al. (2011). Accuracy of marker analysis, quantitative real-time polymerase chain reaction and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy. Genet. Test. Mol. Biomarkers 15, 587-594. doi: 10.1089/gtmb.2010.0253
    • (2011) Genet. Test. Mol. Biomarkers , vol.15 , pp. 587-594
    • Alías, L.1    Bernal, S.2    Barceló, M.J.3    Also-Rallo, E.4    Martínez-Hernández, R.5    Rodríguez-Alvarez, F.J.6
  • 2
    • 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., Mamaï, O., Mili, A., Ben Lazreg, T., et al. (2012). Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients. Eur. J. Paediatr. Neurol. 16, 167-174. doi: 10.1016/j.ejpn.2011.07.007
    • (2012) Eur. J. Paediatr. Neurol , vol.16 , pp. 167-174
    • Amara, A.1    Adala, L.2    Ben Charfeddine, I.3    Mamaï, O.4    Mili, A.5    Ben Lazreg, T.6
  • 3
    • 0038723182 scopus 로고    scopus 로고
    • Determination of SMN1 and SMN2 copy number using TaqMan technology
    • Anhuf, D., Eggermann, T., Rudnik-Schöneborn, S., and Zerres, K. (2003). Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum. Mutat. 22, 74-78. doi: 10.1002/humu.10221
    • (2003) Hum. Mutat , vol.22 , pp. 74-78
    • Anhuf, D.1    Eggermann, T.2    Rudnik-Schöneborn, S.3    Zerres, K.4
  • 5
    • 33845232467 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
    • Arkblad, E. L., Darin, N., Berg, K., Kimber, E., Brandberg, G., Lindberg, C., et al. (2006). Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul. Disord. 16, 830-838. doi: 10.1016/j.nmd.2006.08.011
    • (2006) Neuromuscul. Disord , vol.16 , pp. 830-838
    • Arkblad, E.L.1    Darin, N.2    Berg, K.3    Kimber, E.4    Brandberg, G.5    Lindberg, C.6
  • 6
    • 84890898281 scopus 로고    scopus 로고
    • Spinal muscular atrophy: development and implementation of potential therapeutics
    • Arnold, W. D., and Burghes, A. H. M. (2013). Spinal muscular atrophy: development and implementation of potential therapeutics. Ann. Neurol. 74, 348-362. doi: 10.1002/ana.23995
    • (2013) Ann. Neurol , vol.74 , pp. 348-362
    • Arnold, W.D.1    Burghes, A.H.M.2
  • 7
    • 79951578660 scopus 로고    scopus 로고
    • Large-scale population screening for spinal muscular atrophy: clinical implications
    • Ben-Shachar, S., Orr-Urtreger, A., Bardugo, E., Shomrat, R., and Yaron, Y. (2011). Large-scale population screening for spinal muscular atrophy: clinical implications. Genet. Med. 13, 110-114. doi: 10.1097/GIM.0b013e3182017c05
    • (2011) Genet. Med , vol.13 , pp. 110-114
    • Ben-Shachar, S.1    Orr-Urtreger, A.2    Bardugo, E.3    Shomrat, R.4    Yaron, Y.5
  • 8
    • 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., Alías, L., Barceló, M. J., Also-Rallo, E., Martínez-Hernández, R., Gámez, J., et al. (2010). 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. 47, 640-642. doi: 10.1136/jmg.2010.079004
    • (2010) J. Med. Genet , vol.47 , pp. 640-642
    • Bernal, S.1    Alías, L.2    Barceló, M.J.3    Also-Rallo, E.4    Martínez-Hernández, R.5    Gámez, J.6
  • 11
    • 84946483602 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis
    • Boylan, K. (2015). Familial amyotrophic lateral sclerosis. Neurol. Clin. 33, 807-830. doi: 10.1016/j.ncl.2015.07.001
    • (2015) Neurol. Clin , vol.33 , pp. 807-830
    • Boylan, K.1
  • 12
    • 84912261641 scopus 로고
    • Hereditary factors in infantile progressive muscular atrophy; study of 112 cases in 70 families
    • Brandt, S. (1949). Hereditary factors in infantile progressive muscular atrophy; study of 112 cases in 70 families. Am. J. Dis. Child. 78, 226-236. doi: 10.1001/archpedi.1949.02030050237007
    • (1949) Am. J. Dis. Child , vol.78 , pp. 226-236
    • Brandt, S.1
  • 13
    • 84948147648 scopus 로고    scopus 로고
    • Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients
    • Brkušanin, M., Kosac, A., Jovanovic, V., Pešovic, J., Brajuškovic, G., Dimitrijevic, N., et al. (2015). Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients. J. Hum. Genet. 60, 723-728. doi: 10.1038/jhg.2015.104
    • (2015) J. Hum. Genet , vol.60 , pp. 723-728
    • Brkušanin, M.1    Kosac, A.2    Jovanovic, V.3    Pešovic, J.4    Brajuškovic, G.5    Dimitrijevic, N.6
  • 14
    • 0025260440 scopus 로고
    • Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
    • Brzustowicz, L. M., Lehner, T., Castilla, L. H., Penchaszadeh, G. K., Wilhelmsen, K. C., Daniels, R., et al. (1990). Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344, 540-541. doi: 10.1038/344540a0
    • (1990) Nature , vol.344 , pp. 540-541
    • Brzustowicz, L.M.1    Lehner, T.2    Castilla, L.H.3    Penchaszadeh, G.K.4    Wilhelmsen, K.C.5    Daniels, R.6
  • 15
    • 67651083390 scopus 로고    scopus 로고
    • Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
    • Burghes, A. H. M., and Beattie, C. E. (2009). Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat. Rev. Neurosci. 10, 597-609. doi: 10.1038/nrn2670
    • (2009) Nat. Rev. Neurosci , vol.10 , pp. 597-609
    • Burghes, A.H.M.1    Beattie, C.E.2
  • 18
    • 0031026977 scopus 로고    scopus 로고
    • The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease
    • Bürglen, L., Seroz, T., Miniou, P., Lefebvre, S., Burlet, P., Munnich, A., et al. (1997). The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am. J. Hum. Genet. 60, 72-79
    • (1997) Am. J. Hum. Genet , vol.60 , pp. 72-79
    • Bürglen, L.1    Seroz, T.2    Miniou, P.3    Lefebvre, S.4    Burlet, P.5    Munnich, A.6
  • 19
    • 0029880997 scopus 로고    scopus 로고
    • Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
    • Burlet, P., Bürglen, L., Clermont, O., Lefebvre, S., Viollet, L., Munnich, A., et al. (1996). Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J. Med. Genet. 33, 281-283. doi: 10.1136/jmg.33.4.281
    • (1996) J. Med. Genet , vol.33 , pp. 281-283
    • Burlet, P.1    Bürglen, L.2    Clermont, O.3    Lefebvre, S.4    Viollet, L.5    Munnich, A.6
  • 21
    • 15544385728 scopus 로고    scopus 로고
    • Perspectives on models of spinal muscular atrophy for drug discovery
    • Butchbach, M. E. R., and Burghes, A. H. M. (2004). Perspectives on models of spinal muscular atrophy for drug discovery. Drug Discover. Today Dis. Models 1, 151-156. doi: 10.1016/j.ddmod.2004.07.001
    • (2004) Drug Discover. Today Dis. Models , vol.1 , pp. 151-156
    • Butchbach, M.E.R.1    Burghes, A.H.M.2
  • 22
    • 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., and Davies, K. (1997). Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am. J. Hum. Genet. 61, 40-50. doi: 10.1086/513886
    • (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
  • 23
    • 0027245689 scopus 로고
    • Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family
    • Camu, W., and Billiard, M. (1993). Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. Muscle Nerve 16, 569-570
    • (1993) Muscle Nerve , vol.16 , pp. 569-570
    • Camu, W.1    Billiard, M.2
  • 24
    • 33751100104 scopus 로고    scopus 로고
    • Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
    • Carrel, T. L., McWhorter, M. L., Workman, E., Zhang, H., Wolstencroft, E. C., Lorson, C., et al. (2006). Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J. Neurosci. 26, 11014-11022. doi: 10.1523/JNEUROSCI.1637-06.2006
    • (2006) J. Neurosci , vol.26 , pp. 11014-11022
    • Carrel, T.L.1    McWhorter, M.L.2    Workman, E.3    Zhang, H.4    Wolstencroft, E.C.5    Lorson, C.6
  • 25
    • 8044226616 scopus 로고    scopus 로고
    • A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions
    • Carter, T. A., Bönnemann, C. G., Wang, C. H., Obici, S., Parano, E., De Fatima Bonaldo, M., et al. (1997). A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum. Mol. Genet. 6, 229-236. doi: 10.1093/hmg/6.2.229
    • (1997) Hum. Mol. Genet , vol.6 , pp. 229-236
    • Carter, T.A.1    Bönnemann, C.G.2    Wang, C.H.3    Obici, S.4    Parano, E.5    De Fatima Bonaldo, M.6
  • 26
    • 84906718466 scopus 로고    scopus 로고
    • Assays for the identification and prioritization of drug candidates for spinal muscular atrophy
    • Cherry, J. J., Kobayashi, D. T., Lynes, M. M., Naryshkin, N. N., Tiziano, F. D., Zaworksi, P. G., et al. (2014). Assays for the identification and prioritization of drug candidates for spinal muscular atrophy. Assay Drug Dev. Technol. 12, 315-341. doi: 10.1089/adt.2014.587
    • (2014) Assay Drug Dev. Technol , vol.12 , pp. 315-341
    • Cherry, J.J.1    Kobayashi, D.T.2    Lynes, M.M.3    Naryshkin, N.N.4    Tiziano, F.D.5    Zaworksi, P.G.6
  • 27
    • 77649114471 scopus 로고    scopus 로고
    • A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
    • Cho, S., and Dreyfuss, G. (2010). A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes Dev. 24, 438-442. doi: 10.1101/gad.1884910
    • (2010) Genes Dev , vol.24 , pp. 438-442
    • Cho, S.1    Dreyfuss, G.2
  • 28
    • 71749091926 scopus 로고    scopus 로고
    • Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model
    • Cifuentes-Diaz, C., Nicole, S., Velasco, M. E., Borra-Cebrian, C., Panozzo, C., Frugier, T., et al. (2002). Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Hum. Mol. Genet. 11, 1439-1447. doi: 10.1093/hmg/11.12.1439
    • (2002) Hum. Mol. Genet , vol.11 , pp. 1439-1447
    • Cifuentes-Diaz, C.1    Nicole, S.2    Velasco, M.E.3    Borra-Cebrian, C.4    Panozzo, C.5    Frugier, T.6
  • 29
    • 0029143853 scopus 로고
    • Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
    • Cobben, J. M., van der Steege, G., Grootscholten, P., de Visser, M., Scheffer, H., and Buys, C. H. (1995). Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am. J. Hum. Genet. 57, 805-808
    • (1995) Am. J. Hum. Genet , vol.57 , pp. 805-808
    • Cobben, J.M.1    van der Steege, G.2    Grootscholten, P.3    de Visser, M.4    Scheffer, H.5    Buys, C.H.6
  • 31
    • 33749848158 scopus 로고    scopus 로고
    • SMN1 gene, but not SMN2, is a risk factor for sporadic ALS
    • Corcia, P., Camu, W., Halimi, J. M., Vourc'h, P., Antar, C., Vedrine, S., et al. (2006). SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 67, 1147-1150. doi: 10.1212/01.wnl.0000233830.85206.1e
    • (2006) Neurology , vol.67 , pp. 1147-1150
    • Corcia, P.1    Camu, W.2    Halimi, J.M.3    Vourc'h, P.4    Antar, C.5    Vedrine, S.6
  • 32
    • 84859911665 scopus 로고    scopus 로고
    • Homozygous SMN2 deletion is a protective factor in the Swedish ALS population
    • Corcia, P., Ingre, C., Blasco, H., Press, P., Praline, J., Antar, C., et al. (2012). Homozygous SMN2 deletion is a protective factor in the Swedish ALS population. Eur. J. Hum. Genet. 20, 588-591. doi: 10.1038/ejhg.2011.255
    • (2012) Eur. J. Hum. Genet , vol.20 , pp. 588-591
    • Corcia, P.1    Ingre, C.2    Blasco, H.3    Press, P.4    Praline, J.5    Antar, C.6
  • 33
    • 0037069308 scopus 로고    scopus 로고
    • SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist
    • Corcia, P., Khoris, J., Couratier, P., Mayeux-Portas, V., Bieth, E., de Toffol, B., et al. (2002a). SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist. Neurology 59, 1464-1466. doi: 10.1212/01.WNL.0000032500.73621.C5
    • (2002) Neurology , vol.59 , pp. 1464-1466
    • Corcia, P.1    Khoris, J.2    Couratier, P.3    Mayeux-Portas, V.4    Bieth, E.5    de Toffol, B.6
  • 34
    • 0036156999 scopus 로고    scopus 로고
    • Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis
    • Corcia, P., Mayeux-Portas, V., Khoris, J., de Toffol, B., Autret, A., Müh, J. P., et al. (2002b). Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann. Neurol. 51, 243-246. doi: 10.1002/ana.10104
    • (2002) Ann. Neurol , vol.51 , pp. 243-246
    • Corcia, P.1    Mayeux-Portas, V.2    Khoris, J.3    de Toffol, B.4    Autret, A.5    Müh, J.P.6
  • 35
    • 0037348842 scopus 로고    scopus 로고
    • Segmental duplications in euchromatic regions of human chromosome 5, a source of evolutionary instability and transcriptional innovation
    • Courseaux, A., Richard, F., Grosgeorge, J., Ortola, C., Viale, A., Turc-Carel, C., et al. (2003). Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation. Genome Res. 13, 369-381. doi: 10.1101/gr.490303
    • (2003) Genome Res , vol.13 , pp. 369-381
    • Courseaux, A.1    Richard, F.2    Grosgeorge, J.3    Ortola, C.4    Viale, A.5    Turc-Carel, C.6
  • 36
    • 0030130574 scopus 로고    scopus 로고
    • The neurobiology of childhood spinal muscular atrophy
    • Crawford, T. O., and Pardo, C. A. (1996). The neurobiology of childhood spinal muscular atrophy. Neurobiol. Dis. 3, 97-110. doi: 10.1006/nbdi.1996.0010
    • (1996) Neurobiol. Dis , vol.3 , pp. 97-110
    • Crawford, T.O.1    Pardo, C.A.2
  • 37
    • 84860467692 scopus 로고    scopus 로고
    • Evaluation of SMN protein, transcript and copy number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study
    • Crawford, T. O., Paushkin, S. V., Kobayashi, D. T., Forrest, S. J., Joyce, C. L., Finkel, R. S., et al. (2012). Evaluation of SMN protein, transcript and copy number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PLoS ONE 7:e33572. doi: 10.1371/journal.pone.0033572
    • (2012) PLoS ONE , vol.7
    • Crawford, T.O.1    Paushkin, S.V.2    Kobayashi, D.T.3    Forrest, S.J.4    Joyce, C.L.5    Finkel, R.S.6
  • 38
    • 0036896519 scopus 로고    scopus 로고
    • The relationship of SMN to amyotrophic lateral sclerosis
    • Crawford, T. O., and Skolasky, R. L. Jr. (2002). The relationship of SMN to amyotrophic lateral sclerosis. Ann. Neurol. 52, 857-858. doi: 10.1002/ana.10378
    • (2002) Ann. Neurol , vol.52 , pp. 857-858
    • Crawford, T.O.1    Skolasky, R.L.2
  • 39
    • 31544446845 scopus 로고    scopus 로고
    • SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings
    • Cuscó, I., Barceló, M. J., Rojas-García, R., Illa, I., Gámez, J., Cervera, C., et al. (2006). SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J. Neurol. 253, 21-25. doi: 10.1007/s00415-005-0912-y
    • (2006) J. Neurol , vol.253 , pp. 21-25
    • Cuscó, I.1    Barceló, M.J.2    Rojas-García, R.3    Illa, I.4    Gámez, J.5    Cervera, C.6
  • 41
    • 0029834810 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of congenital spinal muscular atrophy
    • Devriendt, K., Lammens, M., Schollen, E., Van Hole, C., Dom, R., Devlieger, H., et al. (1996). Clinical and molecular genetic features of congenital spinal muscular atrophy. Ann. Neurol. 40, 731-738. doi: 10.1002/ana.410400509
    • (1996) Ann. Neurol , vol.40 , pp. 731-738
    • Devriendt, K.1    Lammens, M.2    Schollen, E.3    Van Hole, C.4    Dom, R.5    Devlieger, H.6
  • 42
    • 0030896085 scopus 로고    scopus 로고
    • Cloning, characterization and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene
    • DiDonato, C. J., Chen, X. N., Noya, D., Korenberg, J. R., Nadeau, J. H., and Simard, L. R. (1997a). Cloning, characterization and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res. 7, 339-352
    • (1997) Genome Res , vol.7 , pp. 339-352
    • DiDonato, C.J.1    Chen, X.N.2    Noya, D.3    Korenberg, J.R.4    Nadeau, J.H.5    Simard, L.R.6
  • 43
    • 0031059705 scopus 로고    scopus 로고
    • Deletion and conversion in spinal muscular atrophy: 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. (1997b). Deletion and conversion in spinal muscular atrophy: is there a relationship to severity? Ann. Neurol. 41, 230-237. doi: 10.1002/ana.410410214
    • (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
  • 44
    • 84861657244 scopus 로고    scopus 로고
    • Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    • Dobrowolski, S. F., Pham, H. T., Pouch-Downes, F., Prior, T. W., Naylor, E. W., and Swoboda, K. J. (2012). Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. Clin. Chem. 58, 1033-1039. doi: 10.1373/clinchem.2012.183038
    • (2012) Clin. Chem , vol.58 , pp. 1033-1039
    • Dobrowolski, S.F.1    Pham, H.T.2    Pouch-Downes, F.3    Prior, T.W.4    Naylor, E.W.5    Swoboda, K.J.6
  • 45
    • 70349338716 scopus 로고    scopus 로고
    • An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy
    • Elsheikh, B., Prior, T., Zhang, X., Miller, R., Kolb, S. J., Moore, D., et al. (2009). An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. Muscle Nerve 40, 652-656. doi: 10.1002/mus.21350
    • (2009) Muscle Nerve , vol.40 , pp. 652-656
    • Elsheikh, B.1    Prior, T.2    Zhang, X.3    Miller, R.4    Kolb, S.J.5    Moore, D.6
  • 46
    • 84924251765 scopus 로고    scopus 로고
    • Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls
    • Fang, P., Li, L., Zhou, W. J., Wu, W. Q., Zhong, Z. Y., Yan, T. Z., et al. (2015). Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls. BMC Musculoskelet. Disord. 16:11. doi: 10.1186/s12891-015-0457-x
    • (2015) BMC Musculoskelet. Disord , vol.16 , pp. 11
    • Fang, P.1    Li, L.2    Zhou, W.J.3    Wu, W.Q.4    Zhong, Z.Y.5    Yan, T.Z.6
  • 47
    • 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
    • Feldkötter, M., Schwarzer, V., Wirth, R., Wienker, T. F., and Wirth, B. (2002). 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. 70, 358-368. doi: 10.1086/338627
    • (2002) Am. J. Hum. Genet , vol.70 , pp. 358-368
    • Feldkötter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 48
    • 28744434333 scopus 로고    scopus 로고
    • The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
    • Gabanella, F., Carissimi, C., Usiello, A., and Pellizzoni, L. (2005). The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. Hum. Mol. Genet. 14, 3629-3642. doi: 10.1093/hmg/ddi390
    • (2005) Hum. Mol. Genet , vol.14 , pp. 3629-3642
    • Gabanella, F.1    Carissimi, C.2    Usiello, A.3    Pellizzoni, L.4
  • 49
    • 0037069237 scopus 로고    scopus 로고
    • Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
    • Gamez, J., Barceló, M. J., Muñoz, X., Carmona, F., Cuscó, I., Baiget, M., et al. (2002). Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients. Neurology 59, 1456-1460. doi: 10.1212/01.WNL.0000032496.64510.4E
    • (2002) Neurology , vol.59 , pp. 1456-1460
    • Gamez, J.1    Barceló, M.J.2    Muñoz, X.3    Carmona, F.4    Cuscó, I.5    Baiget, M.6
  • 50
    • 0033850254 scopus 로고    scopus 로고
    • Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
    • Gérard, B., Ginet, N., Matthijs, G., Evrard, P., Baumann, C., Da Silva, F., et al. (2004). Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum. Mutat. 16, 253-263. doi: 10.1002/1098-1004(200009)16:3<253::AID-HUMU8>3.0.CO;2-8
    • (2004) Hum. Mutat , vol.16 , pp. 253-263
    • Gérard, B.1    Ginet, N.2    Matthijs, G.3    Evrard, P.4    Baumann, C.5    Da Silva, F.6
  • 51
    • 84877590417 scopus 로고    scopus 로고
    • Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm
    • Gerbino, V., Carrì, M. T., Cozzolino, M., and Achsel, T. (2013). Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm. Neurobiol. Dis. 55, 120-128. doi: 10.1016/j.nbd.2013.03.003
    • (2013) Neurobiol. Dis , vol.55 , pp. 120-128
    • Gerbino, V.1    Carrì, M.T.2    Cozzolino, M.3    Achsel, T.4
  • 52
    • 0025330316 scopus 로고
    • Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
    • Gilliam, T. C., Brzustowicz, L. M., Castilla, L. H., Lehner, T., Penchaszadeh, G. K., Daniels, R. J., et al. (1990). Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345, 823-825. doi: 10.1038/345823a0
    • (1990) Nature , vol.345 , pp. 823-825
    • Gilliam, T.C.1    Brzustowicz, L.M.2    Castilla, L.H.3    Lehner, T.4    Penchaszadeh, G.K.5    Daniels, R.J.6
  • 54
    • 84881520627 scopus 로고    scopus 로고
    • ALS-associated mutations in FUS disrupt the axonal distribution and localization of SMN
    • Groen, E. J. N., Fumoto, K., Blokhuis, A. M., Engelen-Lee, J. Y., Zhou, Y., van den Heuvel, D. M. A., et al. (2013). ALS-associated mutations in FUS disrupt the axonal distribution and localization of SMN. Hum. Mol. Genet. 22, 3690-3704. doi: 10.1093/hmg/ddt222
    • (2013) Hum. Mol. Genet , vol.22 , pp. 3690-3704
    • Groen, E.J.N.1    Fumoto, K.2    Blokhuis, A.M.3    Engelen-Lee, J.Y.4    Zhou, Y.5    van den Heuvel, D.M.A.6
  • 55
    • 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-Schöneborn, S., Schonling, J., Zerres, K., et al. (1995). 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. 4, 1927-1933. doi: 10.1093/hmg/4.10.1927
    • (1995) Hum. Mol. Genet , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3    Rudnik-Schöneborn, S.4    Schonling, J.5    Zerres, K.6
  • 56
    • 0029858451 scopus 로고    scopus 로고
    • Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease
    • Hahnen, E., Schönling, J., Rudnik-Schöneborn, S., Zerres, K., and Wirth, B. (1996). Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am. J. Hum. Genet. 59, 1057-1065
    • (1996) Am. J. Hum. Genet , vol.59 , pp. 1057-1065
    • Hahnen, E.1    Schönling, J.2    Rudnik-Schöneborn, S.3    Zerres, K.4    Wirth, B.5
  • 59
    • 34247249951 scopus 로고    scopus 로고
    • Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification
    • Huang, C. H., Chang, Y. Y., Chen, C. H., Kuo, Y. S., Hwu, W. L., Gerdes, T., et al. (2007). Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification. Genet. Med. 9, 241-248. doi: 10.1097/GIM.0b013e31803d35bc
    • (2007) Genet. Med , vol.9 , pp. 241-248
    • Huang, C.H.1    Chang, Y.Y.2    Chen, C.H.3    Kuo, Y.S.4    Hwu, W.L.5    Gerdes, T.6
  • 60
    • 84881518613 scopus 로고    scopus 로고
    • Decreased number of gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis
    • Ishihara, T., Ariizumi, Y., Shiga, A., Kato, T., Tan, C. F., Sato, T., et al. (2013). Decreased number of gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis. Hum. Mol. Genet. 22, 4136-4147. doi: 10.1093/hmg/ddt262
    • (2013) Hum. Mol. Genet , vol.22 , pp. 4136-4147
    • Ishihara, T.1    Ariizumi, Y.2    Shiga, A.3    Kato, T.4    Tan, C.F.5    Sato, T.6
  • 61
    • 0029943383 scopus 로고    scopus 로고
    • Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: homozygous NAIP deletion in a sporadic case
    • Jackson, M., Morrison, K. E., Al-Chalabi, A., Bakker, M., and Leigh, P. N. (1996). Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: homozygous NAIP deletion in a sporadic case. Ann. Neurol. 39, 796-800. doi: 10.1002/ana.410390616
    • (1996) Ann. Neurol , vol.39 , pp. 796-800
    • Jackson, M.1    Morrison, K.E.2    Al-Chalabi, A.3    Bakker, M.4    Leigh, P.N.5
  • 62
    • 42649120983 scopus 로고    scopus 로고
    • TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    • Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J., Vande Velde, C., et al. (2008). TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat. Genet. 40, 572-574. doi: 10.1038/ng.132
    • (2008) Nat. Genet , vol.40 , pp. 572-574
    • Kabashi, E.1    Valdmanis, P.N.2    Dion, P.3    Spiegelman, D.4    McConkey, B.J.5    Vande Velde, C.6
  • 63
    • 84864508021 scopus 로고    scopus 로고
    • Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies
    • Kariya, S., Re, D. B., Jacquier, A., Nelson, K., Przedborski, S., and Monani, U. R. (2012). Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies. Hum. Mol. Genet. 21, 3421-3434. doi: 10.1093/hmg/dds174
    • (2012) Hum. Mol. Genet , vol.21 , pp. 3421-3434
    • Kariya, S.1    Re, D.B.2    Jacquier, A.3    Nelson, K.4    Przedborski, S.5    Monani, U.R.6
  • 65
    • 77958064674 scopus 로고    scopus 로고
    • Association betwen survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population
    • Kim, J., Lee, S. G., Choi, Y. C., Kang, S. W., Lee, J. B., Choi, J. R., et al. (2010). Association betwen survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population. Ann. Clin. Lab. Sci. 40, 368-374
    • (2010) Ann. Clin. Lab. Sci , vol.40 , pp. 368-374
    • Kim, J.1    Lee, S.G.2    Choi, Y.C.3    Kang, S.W.4    Lee, J.B.5    Choi, J.R.6
  • 67
    • 33645223062 scopus 로고    scopus 로고
    • A novel cell immunoassay to measure survival of motor neurons protein in blood cells
    • Kolb, S. J., Gubitz, A. K., Olszewski, R. F. Jr., Ottinger, E., Sumner, C. J., Fischbeck, K. H., et al. (2006). A novel cell immunoassay to measure survival of motor neurons protein in blood cells. BMC Neurol. 6:6. doi: 10.1186/1471-2377-6-6
    • (2006) BMC Neurol , vol.6 , pp. 6
    • Kolb, S.J.1    Gubitz, A.K.2    Olszewski, R.F.3    Ottinger, E.4    Sumner, C.J.5    Fischbeck, K.H.6
  • 68
    • 84945953905 scopus 로고    scopus 로고
    • Spinal muscular atrophy
    • Kolb, S. J., and Kissel, J. T. (2015). Spinal muscular atrophy. Neurol. Clin. 33, 831-846. doi: 10.1016/j.ncl.2015.07.004
    • (2015) Neurol. Clin , vol.33 , pp. 831-846
    • Kolb, S.J.1    Kissel, J.T.2
  • 70
    • 61349156118 scopus 로고    scopus 로고
    • Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
    • Kwiatkowski, T. J Jr., Bosco, D. A., LeClerc, A. L., Tamrazian, E., Vandenburg, C. R., Russ, C., et al. (2009). Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323, 1205-1208. doi: 10.1126/science.1166066
    • (2009) Science , vol.323 , pp. 1205-1208
    • Kwiatkowski, T.J.1    Bosco, D.A.2    LeClerc, A.L.3    Tamrazian, E.4    Vandenburg, C.R.5    Russ, C.6
  • 71
    • 34548419286 scopus 로고    scopus 로고
    • The molecular basis of spinal muscular atrophy (SMA) in South African black patients
    • Labrum, R., Rodda, J., and Krause, A. (2007). The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul. Disord. 17, 684-692. doi: 10.1016/j.nmd.2007.05.005
    • (2007) Neuromuscul. Disord , vol.17 , pp. 684-692
    • Labrum, R.1    Rodda, J.2    Krause, A.3
  • 72
    • 20144385587 scopus 로고    scopus 로고
    • SMND7, the major product of the centromeric survival motor neuron gene (SMN2), extends survival in mice with spinal muscular atrophy and associates with full-length SMN
    • Le, T. T., Pham, L. T., Butchbach, M. E. R., Zhang, H. L., Monani, U. R., Coovert, D. D., et al. (2005). SMND7, the major product of the centromeric survival motor neuron gene (SMN2), extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum. Mol. Genet. 14, 845-857. doi: 10.1093/hmg/ddi078
    • (2005) Hum. Mol. Genet , vol.14 , pp. 845-857
    • Le, T.T.1    Pham, L.T.2    Butchbach, M.E.R.3    Zhang, H.L.4    Monani, U.R.5    Coovert, D.D.6
  • 73
    • 84255184836 scopus 로고    scopus 로고
    • Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients
    • Lee, J. B., Lee, K. A., Hong, J. M., Suh, G. I., and Choi, Y. C. (2012). Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients. Yonsei Med. J. 53, 53-57. doi: 10.3349/ymj.2012.53.1.53
    • (2012) Yonsei Med. J , vol.53 , pp. 53-57
    • Lee, J.B.1    Lee, K.A.2    Hong, J.M.3    Suh, G.I.4    Choi, Y.C.5
  • 74
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., et al. (1995). Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-165. doi: 10.1016/0092-8674(95)90460-3
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Bürglen, L.2    Reboullet, S.3    Clermont, O.4    Burlet, P.5    Viollet, L.6
  • 75
    • 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. (1997). Correlation between severity and SMN protein level in spinal muscular atrophy. Nat. Genet. 16, 265-269. doi: 10.1038/ng0797-265
    • (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
  • 76
    • 84945900072 scopus 로고    scopus 로고
    • Progressive muscular atrophy
    • Liewluck, T., and Saperstein, D. S. (2015). Progressive muscular atrophy. Neurol. Clin. 33, 761-773. doi: 10.1016/j.ncl.2015.07.005
    • (2015) Neurol. Clin , vol.33 , pp. 761-773
    • Liewluck, T.1    Saperstein, D.S.2
  • 77
    • 0029954338 scopus 로고    scopus 로고
    • A novel nuclear structure containing the survival of motor neurons protein
    • Liu, Q., and Dreyfuss, G. (1996). A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 15, 3555-3565
    • (1996) EMBO J , vol.15 , pp. 3555-3565
    • Liu, Q.1    Dreyfuss, G.2
  • 78
    • 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., and Androphy, E. J. (2000). An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9, 259-265. doi: 10.1093/hmg/9.2.259
    • (2000) Hum. Mol. Genet , vol.9 , pp. 259-265
    • Lorson, C.L.1    Androphy, E.J.2
  • 79
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson, C. L., Hahnen, E., Androphy, E. J., and Wirth, B. (1999). A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. U.S.A. 96, 6307-6311. doi: 10.1073/pnas.96.11.6307
    • (1999) Proc. Natl. Acad. Sci. U.S.A , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 80
    • 84858816466 scopus 로고    scopus 로고
    • Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns
    • Lyahyai, J., Sbiti, A., Barkat, A., Ratbi, I., and Sefiani, A. (2012). Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns. Genet. Test. Mol. Biomarkers 16, 215-218. doi: 10.1089/gtmb.2011.0149
    • (2012) Genet. Test. Mol. Biomarkers , vol.16 , pp. 215-218
    • Lyahyai, J.1    Sbiti, A.2    Barkat, A.3    Ratbi, I.4    Sefiani, A.5
  • 81
    • 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. (2002). Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet. Med. 4, 20-26. doi: 10.1097/00125817-200201000-00004
    • (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
  • 82
    • 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. (1997). Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am. J. Hum. Genet. 60, 1411-1422. doi: 10.1086/515465
    • (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
  • 83
    • 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. M., and Beattie, C. E. (2003). Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J. Cell Biol. 162, 919-931. doi: 10.1083/jcb.200303168
    • (2003) J. Cell Biol , vol.162 , pp. 919-931
    • McWhorter, M.L.1    Monani, U.R.2    Burghes, A.H.M.3    Beattie, C.E.4
  • 84
    • 0025319713 scopus 로고
    • Genes for chronic proximal spinal muscular atrophies maps to chromosome 5q
    • Melki, J., Abdelhak, S., Sheth, P., Bachelot, M. F., Burlet, P., Marcadet, A., et al. (1990a). Genes for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344, 767-768. doi: 10.1038/344767a0
    • (1990) Nature , vol.344 , pp. 767-768
    • Melki, J.1    Abdelhak, S.2    Sheth, P.3    Bachelot, M.F.4    Burlet, P.5    Marcadet, A.6
  • 85
    • 0025299356 scopus 로고
    • Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14 The French Spinal Muscular Atrophy Investigators
    • Melki, J., Sheth, P., Abdelhak, S., Burlet, P., Bachelot, M. F., Lathrop, M. G., et al. (1990b). Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet 336, 271-273. doi: 10.1016/0140-6736(90)91803-I
    • (1990) Lancet , vol.336 , pp. 271-273
    • Melki, J.1    Sheth, P.2    Abdelhak, S.3    Burlet, P.4    Bachelot, M.F.5    Lathrop, M.G.6
  • 86
    • 77649186396 scopus 로고    scopus 로고
    • Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy
    • Michaud, M., Arnoux, T., Bielli, S., Durand, E., Rotrou, Y., Jablonka, S., et al. (2010). Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol. Dis. 38, 125-135. doi: 10.1016/j.nbd.2010.01.006
    • (2010) Neurobiol. Dis , vol.38 , pp. 125-135
    • Michaud, M.1    Arnoux, T.2    Bielli, S.3    Durand, E.4    Rotrou, Y.5    Jablonka, S.6
  • 87
    • 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. M., et al. (1999). A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 8, 1177-1183. doi: 10.1093/hmg/8.7.1177
    • (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.M.6
  • 88
    • 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. (2000). 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. 9, 333-339. doi: 10.1093/hmg/9.3.333
    • (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
  • 89
    • 0030482259 scopus 로고    scopus 로고
    • Advances in SMA research: review of gene deletions
    • Morrison, K. E. (1996). Advances in SMA research: review of gene deletions. Neuromuscul. Disord. 6, 397-408. doi: 10.1016/S0960-8966(96)00368-9
    • (1996) Neuromuscul. Disord , vol.6 , pp. 397-408
    • Morrison, K.E.1
  • 90
    • 0031958077 scopus 로고    scopus 로고
    • Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease
    • Moulard, B., Salachas, F., Chassande, B., Briolotti, V., Meininger, V., Malafosse, A., et al. (1998). Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease. Ann. Neurol. 43, 640-644. doi: 10.1002/ana.410430513
    • (1998) Ann. Neurol , vol.43 , pp. 640-644
    • Moulard, B.1    Salachas, F.2    Chassande, B.3    Briolotti, V.4    Meininger, V.5    Malafosse, A.6
  • 91
    • 0027057672 scopus 로고
    • International SMA Consortium meeting
    • Munsat, T. L., and Davies, K. E. (1992). International SMA Consortium meeting. Neuromuscul. Disord. 2, 423-428. doi: 10.1016/S0960-8966(06)80015-5
    • (1992) Neuromuscul. Disord , vol.2 , pp. 423-428
    • Munsat, T.L.1    Davies, K.E.2
  • 92
    • 0038273864 scopus 로고    scopus 로고
    • Intact satellite cells lead to remarkable protection against Smn gene defect in differentiation skeletal muscle
    • Nicole, S., Desforges, B., Millet, G., Lesbordes, J., Cifuentes-Diaz, C., Vertes, D., et al. (2003). Intact satellite cells lead to remarkable protection against Smn gene defect in differentiation skeletal muscle. J. Cell Biol. 161, 571-582. doi: 10.1083/jcb.200210117
    • (2003) J. Cell Biol , vol.161 , pp. 571-582
    • Nicole, S.1    Desforges, B.2    Millet, G.3    Lesbordes, J.4    Cifuentes-Diaz, C.5    Vertes, D.6
  • 93
    • 42549088649 scopus 로고    scopus 로고
    • Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
    • Oprea, G. E., Kröber, S., McWhorter, M. L., Rossoll, W., Müller, S., Krawczak, M., et al. (2008). Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 320, 524-527. doi: 10.1126/science.1155085
    • (2008) Science , vol.320 , pp. 524-527
    • Oprea, G.E.1    Kröber, S.2    McWhorter, M.L.3    Rossoll, W.4    Müller, S.5    Krawczak, M.6
  • 94
    • 0030899577 scopus 로고    scopus 로고
    • The relationship of spinal muscular atrophy to motor neuron disease Investigation of SMN and NAIP gene deletions in sporadic and familial ALS
    • Orrell, R. W., Habgood, J. J., de Belleroche, J. S., and Lane, R. J. M. (1997). The relationship of spinal muscular atrophy to motor neuron disease. Investigation of SMN and NAIP gene deletions in sporadic and familial ALS. J. Neurol. Sci. 145, 55-61. doi: 10.1016/S0022-510X(96)00240-7
    • (1997) J. Neurol. Sci , vol.145 , pp. 55-61
    • Orrell, R.W.1    Habgood, J.J.2    de Belleroche, J.S.3    Lane, R.J.M.4
  • 95
    • 0033058289 scopus 로고    scopus 로고
    • Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis
    • Parboosingh, J. S., Meininger, V., McKenna-Yasek, D., Brown, R. H. Jr., and Rouleau, G. A. (1999). Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis. Arch. Neurol. 56, 710-712. doi: 10.1001/archneur.56.6.710
    • (1999) Arch. Neurol , vol.56 , pp. 710-712
    • Parboosingh, J.S.1    Meininger, V.2    McKenna-Yasek, D.3    Brown, R.H.4    Rouleau, G.A.5
  • 96
    • 0018238065 scopus 로고
    • Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy
    • Pearn, J. (1978). Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet. 15, 409-413. doi: 10.1136/jmg.15.6.409
    • (1978) J. Med. Genet , vol.15 , pp. 409-413
    • Pearn, J.1
  • 97
    • 34047148903 scopus 로고    scopus 로고
    • Chaperoning ribonucleoprotein biogenesis in health and disease
    • Pellizzoni, L. (2007). Chaperoning ribonucleoprotein biogenesis in health and disease. EMBO Rep. 8, 340-345. doi: 10.1038/sj.embor.7400941
    • (2007) EMBO Rep , vol.8 , pp. 340-345
    • Pellizzoni, L.1
  • 99
    • 79960834390 scopus 로고    scopus 로고
    • Technical standards and guidelines for spinal muscular atrophy testing
    • Prior, T. W., Nagan, N., Sugarman, E. A., Batish, S. D., and Braastad, C. (2011). Technical standards and guidelines for spinal muscular atrophy testing. Genet. Med. 13, 686-694. doi: 10.1097/GIM.0b013e318220d523
    • (2011) Genet. Med , vol.13 , pp. 686-694
    • Prior, T.W.1    Nagan, N.2    Sugarman, E.A.3    Batish, S.D.4    Braastad, C.5
  • 100
    • 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., and Hejmanowski, A. Q. (2005). Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am. J. Med. Genet. 130A, 307-310. doi: 10.1002/ajmg.a.30251
    • (2005) Am. J. Med. Genet , vol.130A , pp. 307-310
    • Prior, T.W.1    Swoboda, K.J.2    Scott, H.D.3    Hejmanowski, A.Q.4
  • 101
    • 84923377129 scopus 로고    scopus 로고
    • Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein gene with the natural history in a Chinese spinal muscular atrophy cohort
    • Qu, Y., Ge, X., Bai, J., Wang, L., Cao, Y., Lu, Y., et al. (2014). Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein gene with the natural history in a Chinese spinal muscular atrophy cohort. J. Child Neurol. 30, 429-436. doi: 10.1177/0883073814553271
    • (2014) J. Child Neurol , vol.30 , pp. 429-436
    • Qu, Y.1    Ge, X.2    Bai, J.3    Wang, L.4    Cao, Y.5    Lu, Y.6
  • 102
    • 84893649256 scopus 로고    scopus 로고
    • State of play in amyotrophic lateral sclerosis genetics
    • Renton, A. E., Chiò, A., and Traynor, B. J. (2014). State of play in amyotrophic lateral sclerosis genetics. Nat. Neurosci. 17, 17-23. doi: 10.1038/nn.3584
    • (2014) Nat. Neurosci , vol.17 , pp. 17-23
    • Renton, A.E.1    Chiò, A.2    Traynor, B.J.3
  • 103
    • 0035073894 scopus 로고    scopus 로고
    • SMN gene duplication and emergence of the SMN2 gene occured in distinct hominids: SMN2 is unique to Homo sapiens
    • Rochette, C. F., Gilbert, N., and Simard, L. R. (2001). SMN gene duplication and emergence of the SMN2 gene occured in distinct hominids: SMN2 is unique to Homo sapiens. Hum. Genet. 108, 255-266. doi: 10.1007/s004390100473
    • (2001) Hum. Genet , vol.108 , pp. 255-266
    • Rochette, C.F.1    Gilbert, N.2    Simard, L.R.3
  • 105
    • 76649109211 scopus 로고    scopus 로고
    • Progressive muscular atrophy and other lower motor neuron syndromes of adults
    • Rowland, L. P. (2010). Progressive muscular atrophy and other lower motor neuron syndromes of adults. Muscle Nerve 41, 161-165. doi: 10.1002/mus.21565
    • (2010) Muscle Nerve , vol.41 , pp. 161-165
    • Rowland, L.P.1
  • 106
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
    • Roy, N., Mahadevan, M. S., McLean, M., Shutler, G., Yaraghi, Z., Farahani, R., et al. (1995). The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80, 167-178. doi: 10.1016/0092-8674(95)90461-1
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    McLean, M.3    Shutler, G.4    Yaraghi, Z.5    Farahani, R.6
  • 107
    • 34548190615 scopus 로고    scopus 로고
    • Spinal muscular atrophy: clinical classification and disease heterogeneity
    • Russman, B. S. (2007). Spinal muscular atrophy: clinical classification and disease heterogeneity. J. Child Neurol. 22, 946-951. doi: 10.1177/0883073807305673
    • (2007) J. Child Neurol , vol.22 , pp. 946-951
    • Russman, B.S.1
  • 108
    • 84899981111 scopus 로고    scopus 로고
    • Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa
    • Sangaré, M., Hendrickson, B., Sango, H. A., Chen, K., Nofziger, J., Amara, A., et al. (2014). Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Ann. Neurol. 75, 525-532. doi: 10.1002/ana.24114
    • (2014) Ann. Neurol , vol.75 , pp. 525-532
    • Sangaré, M.1    Hendrickson, B.2    Sango, H.A.3    Chen, K.4    Nofziger, J.5    Amara, A.6
  • 109
    • 33750069739 scopus 로고    scopus 로고
    • Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification
    • Scarciolla, O., Stuppia, L., De Angelis, M. V., Murru, S., Palka, C., Giuliani, R., et al. (2006). Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Neurogenetics 7, 269-276. doi: 10.1007/s10048-006-0051-3
    • (2006) Neurogenetics , vol.7 , pp. 269-276
    • Scarciolla, O.1    Stuppia, L.2    De Angelis, M.V.3    Murru, S.4    Palka, C.5    Giuliani, R.6
  • 110
    • 0031710558 scopus 로고    scopus 로고
    • Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
    • Scharf, J. M., Endrizzi, M. G., Wetter, A., Huang, S., Thompson, T. G., Zerres, K., et al. (1998). Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat. Genet. 20, 83-86. doi: 10.1038/1753
    • (1998) Nat. Genet , vol.20 , pp. 83-86
    • Scharf, J.M.1    Endrizzi, M.G.2    Wetter, A.3    Huang, S.4    Thompson, T.G.5    Zerres, K.6
  • 111
    • 4644268484 scopus 로고    scopus 로고
    • The DNA sequence and comparative analysis of human chromosome 5
    • Schmutz, J., Martin, J., Terry, A., Couronne, O., Grimwood, J., Lowry, S., et al. (2004). The DNA sequence and comparative analysis of human chromosome 5. Nature 431, 268-274. doi: 10.1038/nature02919
    • (2004) Nature , vol.431 , pp. 268-274
    • Schmutz, J.1    Martin, J.2    Terry, A.3    Couronne, O.4    Grimwood, J.5    Lowry, S.6
  • 112
    • 0030931720 scopus 로고    scopus 로고
    • Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
    • Schrank, B., Götz, R., Gunnersen, J. M., Ure, J. M., Toyka, K. V., Smith, A. G., et al. (1997). Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl. Acad. Sci. U.S.A. 94, 9920-9925. doi: 10.1073/pnas.94.18.9920
    • (1997) Proc. Natl. Acad. Sci. U.S.A , vol.94 , pp. 9920-9925
    • Schrank, B.1    Götz, R.2    Gunnersen, J.M.3    Ure, J.M.4    Toyka, K.V.5    Smith, A.G.6
  • 113
    • 77958022745 scopus 로고    scopus 로고
    • Altered distributions of gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice
    • Shan, X., Chiang, P. M., Price, D. L., and Wong, P. C. (2010). Altered distributions of gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice. Proc. Natl. Acad. Sci. U.S.A. 107, 16325-16330. doi: 10.1073/pnas.1003459107
    • (2010) Proc. Natl. Acad. Sci. U.S.A , vol.107 , pp. 16325-16330
    • Shan, X.1    Chiang, P.M.2    Price, D.L.3    Wong, P.C.4
  • 114
    • 33846820104 scopus 로고    scopus 로고
    • Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA
    • Simard, L. R., Bélanger, M. C., Morissette, S., Wride, M., Prior, T. W., and Swoboda, K. J. (2007). Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA. Neurology 68, 451-456. doi: 10.1212/01.wnl.0000252934.70676.ab
    • (2007) Neurology , vol.68 , pp. 451-456
    • Simard, L.R.1    Bélanger, M.C.2    Morissette, S.3    Wride, M.4    Prior, T.W.5    Swoboda, K.J.6
  • 115
    • 41149180753 scopus 로고    scopus 로고
    • TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    • Sreedharan, S., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., et al. (2008). TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319, 1668-1672. doi: 10.1126/science.1154584
    • (2008) Science , vol.319 , pp. 1668-1672
    • Sreedharan, S.1    Blair, I.P.2    Tripathi, V.B.3    Hu, X.4    Vance, C.5    Rogelj, B.6
  • 116
    • 84976230444 scopus 로고    scopus 로고
    • SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR
    • Stabley, D. L., Harris, A. W., Holbrook, J., Chubbs, N. J., Lozo, K. W., Crawford, T. O., et al. (2015). SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol. Genet. Genomic Med. 3, 248-257. doi: 10.1002/mgg3.141
    • (2015) Mol. Genet. Genomic Med , vol.3 , pp. 248-257
    • Stabley, D.L.1    Harris, A.W.2    Holbrook, J.3    Chubbs, N.J.4    Lozo, K.W.5    Crawford, T.O.6
  • 117
    • 84946471802 scopus 로고    scopus 로고
    • Patterns of weakness, classification of motor neuron disease and clinical diagnosis of sporadic amyotrophic lateral sclerosis
    • Statland, J. M., Barohn, R. J., McVey, A. L., Katz, J. S., and Dimachkie, M. M. (2015). Patterns of weakness, classification of motor neuron disease and clinical diagnosis of sporadic amyotrophic lateral sclerosis. Neurol. Clin. 33, 735-748. doi: 10.1016/j.ncl.2015.07.006
    • (2015) Neurol. Clin , vol.33 , pp. 735-748
    • Statland, J.M.1    Barohn, R.J.2    McVey, A.L.3    Katz, J.S.4    Dimachkie, M.M.5
  • 118
    • 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. (2010). Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch. Neurol. 67, 1252-1256. doi: 10.1001/archneurol.2010.239
    • (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
  • 119
    • 21044456460 scopus 로고    scopus 로고
    • Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test
    • Su, Y. N., Hung, C. C., Li, H., Lee, C. N., Cheng, W. F., Tsao, P. N., et al. (2005). Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Hum. Mutat. 25, 460-467. doi: 10.1002/humu.20160
    • (2005) Hum. Mutat , vol.25 , pp. 460-467
    • Su, Y.N.1    Hung, C.C.2    Li, H.3    Lee, C.N.4    Cheng, W.F.5    Tsao, P.N.6
  • 120
    • 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, Y. N., Hung, C. C., Lin, S. Y., Chen, F. Y., Chern, J. P. S., Tsai, C., et al. (2011). Carrier screening for spinal muscular atrophy (SMA) in 107, 611 pregnant women during the period 2005-2009: a prospective population-based cohort study. PLoS ONE 6:e17067. doi: 10.1371/journal.pone.0017067
    • (2011) PLoS ONE , vol.6
    • Su, Y.N.1    Hung, C.C.2    Lin, S.Y.3    Chen, F.Y.4    Chern, J.P.S.5    Tsai, C.6
  • 121
    • 83255187319 scopus 로고    scopus 로고
    • Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72400 specimens
    • Sugarman, E. A., Nagan, N., Zhu, H., Akmaev, V. R., Zhou, Z., Rohlfs, A. M., et al. (2012). Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72400 specimens. Eur. J. Hum. Genet. 20, 27-32. doi: 10.1038/ejhg.2011.134
    • (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, A.M.6
  • 122
    • 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. (2006). SMN mRNA and protein levels in peripheral blood. Biomarkers for SMA clinical trials. Neurology 66, 1067-1073. doi: 10.1212/01.wnl.0000201929.56928.13
    • (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
  • 123
    • 84923088131 scopus 로고    scopus 로고
    • ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP
    • Sun, S., Ling, S. C., Qiu, J., Albuquerque, C. P., Zhou, Y., Tokunaga, S., et al. (2015). ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP. Nat. Commun. 6, 6171. doi: 10.1038/ncomms7171
    • (2015) Nat. Commun , vol.6 , pp. 6171
    • Sun, S.1    Ling, S.C.2    Qiu, J.3    Albuquerque, C.P.4    Zhou, Y.5    Tokunaga, S.6
  • 124
    • 84908481936 scopus 로고    scopus 로고
    • The phenotypic variability of amyotrophic lateral sclerosis
    • Swinnen, B., and Robberecht, W. (2014). The phenotypic variability of amyotrophic lateral sclerosis. Nat. Rev. Neurol. 10, 661-670. doi: 10.1038/nrneurol.2014.184
    • (2014) Nat. Rev. Neurol , vol.10 , pp. 661-670
    • Swinnen, B.1    Robberecht, W.2
  • 125
    • 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. (2005). Natural history of denervation in SMA: relation to age, SMN2 copy number and function. Ann. Neurol. 57, 704-712. doi: 10.1002/ana.20473
    • (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
  • 127
    • 0031734722 scopus 로고    scopus 로고
    • Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy
    • Taylor, J. E., Thomas, N. H., Lewis, C. M., Abbs, S. J., Rodrigues, N. R., Davies, K. E., et al. (1998). Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy. Eur. J. Hum. Genet. 6, 467-474. doi: 10.1038/sj.ejhg.5200210
    • (1998) Eur. J. Hum. Genet , vol.6 , pp. 467-474
    • Taylor, J.E.1    Thomas, N.H.2    Lewis, C.M.3    Abbs, S.J.4    Rodrigues, N.R.5    Davies, K.E.6
  • 128
    • 34247566138 scopus 로고    scopus 로고
    • The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study
    • Tiziano, F. D., Bertini, E., Messina, S., Angelozzi, C., Pane, M., D'Amico, A., et al. (2007). The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study. Neuromuscul. Disord. 17, 400-403. doi: 10.1016/j.nmd.2007.02.006
    • (2007) Neuromuscul. Disord , vol.17 , pp. 400-403
    • Tiziano, F.D.1    Bertini, E.2    Messina, S.3    Angelozzi, C.4    Pane, M.5    D'Amico, A.6
  • 129
    • 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. (2010). SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur. J. Hum. Genet. 18, 52-58. doi: 10.1038/ejhg.2009.116
    • (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
  • 130
    • 84873314088 scopus 로고    scopus 로고
    • Spliceosome integrity is defective in the motor neuron diseases ALS and SMA
    • Tsuiji, H., Iguchi, Y., Furuya, A., Kataoka, A., Hatsuta, H., Atsuta, N., et al. (2013). Spliceosome integrity is defective in the motor neuron diseases ALS and SMA. EMBO Mol. Med. 5, 221-234. doi: 10.1002/emmm.201202303
    • (2013) EMBO Mol. Med , vol.5 , pp. 221-234
    • Tsuiji, H.1    Iguchi, Y.2    Furuya, A.3    Kataoka, A.4    Hatsuta, H.5    Atsuta, N.6
  • 131
    • 84891373339 scopus 로고    scopus 로고
    • Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice
    • Turner, B. J., Alfazema, N., Sheean, R. K., Sleigh, J. N., Davies, K. E., Horne, M. K., et al. (2014). Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice. Neurobiol. Aging 35, 906-915. doi: 10.1016/j.neurobiolaging.2013.09.030
    • (2014) Neurobiol. Aging , vol.35 , pp. 906-915
    • Turner, B.J.1    Alfazema, N.2    Sheean, R.K.3    Sleigh, J.N.4    Davies, K.E.5    Horne, M.K.6
  • 132
    • 67349285905 scopus 로고    scopus 로고
    • Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model
    • Turner, B. J., Parkinson, N. J., Davies, K. E., and Talbot, K. (2009). Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol. Dis. 34, 511-517. doi: 10.1016/j.nbd.2009.03.005
    • (2009) Neurobiol. Dis , vol.34 , pp. 511-517
    • Turner, B.J.1    Parkinson, N.J.2    Davies, K.E.3    Talbot, K.4
  • 133
    • 0029819241 scopus 로고    scopus 로고
    • Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus at chromosome 5
    • van der Steege, G., Grootscholten, P. M., Cobben, J. M., Zappata, S., Scheffer, H., den Dunnen, J. T., et al. (1996). Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus at chromosome 5. Am. J. Hum. Genet. 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
  • 134
    • 0028922174 scopus 로고
    • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
    • van der Steege, G., Grootscholten, P. M., van der Vlies, P., Draaijers, T. G., Osinga, J., Cobben, J. M., et al. (1995). PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345, 985-986. doi: 10.1016/S0140-6736(95)90732-7
    • (1995) Lancet , vol.345 , pp. 985-986
    • van der Steege, G.1    Grootscholten, P.M.2    van der Vlies, P.3    Draaijers, T.G.4    Osinga, J.5    Cobben, J.M.6
  • 135
    • 61349162349 scopus 로고    scopus 로고
    • Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    • Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Nishimura, A. L., Sreeharan, J., et al. (2009). Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323, 1208-1211. doi: 10.1126/science.1165942
    • (2009) Science , vol.323 , pp. 1208-1211
    • Vance, C.1    Rogelj, B.2    Hortobágyi, T.3    De Vos, K.J.4    Nishimura, A.L.5    Sreeharan, J.6
  • 136
    • 0030047445 scopus 로고    scopus 로고
    • Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype
    • Velasco, E., Valero, C., Valero, A., Moreno, F., and Hernández-Chico, C. (1996). Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum. Mol. Genet. 5, 257-263. doi: 10.1093/hmg/5.2.257
    • (1996) Hum. Mol. Genet , vol.5 , pp. 257-263
    • Velasco, E.1    Valero, C.2    Valero, A.3    Moreno, F.4    Hernández-Chico, C.5
  • 137
    • 25444493946 scopus 로고    scopus 로고
    • SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS
    • Veldink, J. H., Kalmijn, S., Van der Hout, A. H., Lemmink, H. H., Groeneveld, G. J., Lummen, C., et al. (2005). SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology 65, 820-825. doi: 10.1212/01.wnl.0000174472.03292.dd
    • (2005) Neurology , vol.65 , pp. 820-825
    • Veldink, J.H.1    Kalmijn, S.2    Van der Hout, A.H.3    Lemmink, H.H.4    Groeneveld, G.J.5    Lummen, C.6
  • 138
    • 0035957312 scopus 로고    scopus 로고
    • Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
    • Veldink, J. H., van den Berg, L. H., Cobben, J. M., Stulp, R. P., De Jong, J. M. B. V., Vogels, O. J., et al. (2001). Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 56, 753-757. doi: 10.1212/WNL.56.6.749
    • (2001) Neurology , vol.56 , pp. 753-757
    • Veldink, J.H.1    van den Berg, L.H.2    Cobben, J.M.3    Stulp, R.P.4    De Jong, J.M.B.V.5    Vogels, O.J.6
  • 139
    • 34848897216 scopus 로고    scopus 로고
    • A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy
    • Vezain, M., Saugier-Veber, P., Melki, J., Toutain, A., Bieth, E., Husson, M., et al. (2007). A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. Eur. J. Hum. Genet. 15, 1054-1062. doi: 10.1038/sj.ejhg.5201885
    • (2007) Eur. J. Hum. Genet , vol.15 , pp. 1054-1062
    • Vezain, M.1    Saugier-Veber, P.2    Melki, J.3    Toutain, A.4    Bieth, E.5    Husson, M.6
  • 140
    • 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., Saukkonen, A. M., Goina, E., Touraine, R., Manel, V., Toutain, A., et al. (2010). 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. 31, E1110-E1125. doi: 10.1002/humu.21173
    • (2010) Hum. Mutat , vol.31 , pp. E1110-E1125
    • Vezain, M.1    Saukkonen, A.M.2    Goina, E.3    Touraine, R.4    Manel, V.5    Toutain, A.6
  • 141
    • 0031568882 scopus 로고    scopus 로고
    • cDNA isolation, expression and chromosomal localization of the mouse survival motor neuron gene (Smn)
    • Viollet, L., Bertrandy, S., Beuno Brunialti, A. L., Lefebvre, S., Burlet, P., Clermont, O., et al. (1997). cDNA isolation, expression and chromosomal localization of the mouse survival motor neuron gene (Smn). Genomics 40, 185-188. doi: 10.1006/geno.1996.4551
    • (1997) Genomics , vol.40 , pp. 185-188
    • Viollet, L.1    Bertrandy, S.2    Beuno Brunialti, A.L.3    Lefebvre, S.4    Burlet, P.5    Clermont, O.6
  • 142
    • 7244219856 scopus 로고    scopus 로고
    • Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload
    • Vitte, J. M., Davoult, B., Roblot, N., Mayer, M., Joshi, V., Courageot, S., et al. (2004). Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload. Am. J. Pathol. 165, 1731-1741. doi: 10.1016/S0002-9440(10)63428-1
    • (2004) Am. J. Pathol , vol.165 , pp. 1731-1741
    • Vitte, J.M.1    Davoult, B.2    Roblot, N.3    Mayer, M.4    Joshi, V.5    Courageot, S.6
  • 144
    • 20744455958 scopus 로고    scopus 로고
    • The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy
    • Wan, L., Battle, D. J., Yong, J., Gubitz, A. K., Kolb, S. J., Wang, J., et al. (2005). The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy. Mol. Cell. Biol. 25, 5543-5551. doi: 10.1128/MCB.25.13.5543-5551.2005
    • (2005) Mol. Cell. Biol , vol.25 , pp. 5543-5551
    • Wan, L.1    Battle, D.J.2    Yong, J.3    Gubitz, A.K.4    Kolb, S.J.5    Wang, J.6
  • 145
    • 77954741507 scopus 로고    scopus 로고
    • Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis
    • Wang, C. C., Chang, J. G., Chen, Y. L., Jong, Y. J., and Wu, S. M. (2010a). Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis. Electrophoresis 31, 2396-2404. doi: 10.1002/elps.201000124
    • (2010) Electrophoresis , vol.31 , pp. 2396-2404
    • Wang, C.C.1    Chang, J.G.2    Chen, Y.L.3    Jong, Y.J.4    Wu, S.M.5
  • 146
    • 77955983625 scopus 로고    scopus 로고
    • Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy
    • Wang, C. C., Jong, Y. J., Chang, J. G., Chen, Y. L., and Wu, S. M. (2010b). Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy. Anal. Bioanal. Chem. 397, 2375-2383. doi: 10.1007/s00216-010-3761-1
    • (2010) Anal. Bioanal. Chem , vol.397 , pp. 2375-2383
    • Wang, C.C.1    Jong, Y.J.2    Chang, J.G.3    Chen, Y.L.4    Wu, S.M.5
  • 147
    • 84901818717 scopus 로고    scopus 로고
    • Universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy
    • Wang, C. C., Shih, C. J., Jong, Y. J., and Wu, S. M. (2014a). Universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy. Anal. Chim. Acta 833, 40-47. doi: 10.1016/j.aca.2014.05.008
    • (2014) Anal. Chim. Acta , vol.833 , pp. 40-47
    • Wang, C.C.1    Shih, C.J.2    Jong, Y.J.3    Wu, S.M.4
  • 148
    • 84899984949 scopus 로고    scopus 로고
    • SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: evidence from a meta-analysis
    • Wang, X. B., Cui, N. H., Gao, J. J., Qiu, X. P., and Zheng, F. (2014b). SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: evidence from a meta-analysis. J. Neurol. Sci. 340, 63-68. doi: 10.1016/j.jns.2014.02.026
    • (2014) J. Neurol. Sci , vol.340 , pp. 63-68
    • Wang, X.B.1    Cui, N.H.2    Gao, J.J.3    Qiu, X.P.4    Zheng, F.5
  • 149
    • 33645743043 scopus 로고    scopus 로고
    • Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
    • Wirth, B., Brichta, L., Schrank, B., Lochmüller, H., Blick, S., Baasner, A., et al. (2006). Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum. Genet. 119, 422-428. doi: 10.1007/s00439-006-0156-7
    • (2006) Hum. Genet , vol.119 , pp. 422-428
    • Wirth, B.1    Brichta, L.2    Schrank, B.3    Lochmüller, H.4    Blick, S.5    Baasner, A.6
  • 150
    • 84879881735 scopus 로고    scopus 로고
    • How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic applications
    • Wirth, B., Garbes, L., and Riessland, M. (2013). How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic applications. Curr. Opin. Genet. Dev. 23, 330-338. doi: 10.1016/j.gde.2013.03.003
    • (2013) Curr. Opin. Genet. Dev , vol.23 , pp. 330-338
    • Wirth, B.1    Garbes, L.2    Riessland, M.3
  • 151
    • 0029117950 scopus 로고
    • Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs
    • Wirth, B., Hahnen, E., Morgan, K., DiDonato, C. J., Dadze, A., Rudnik-Schöneborn, S., et al. (1995). Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum. Mol. Genet. 4, 1273-1284. doi: 10.1093/hmg/4.8.1273
    • (1995) Hum. Mol. Genet , vol.4 , pp. 1273-1284
    • Wirth, B.1    Hahnen, E.2    Morgan, K.3    DiDonato, C.J.4    Dadze, A.5    Rudnik-Schöneborn, S.6
  • 152
    • 84868153116 scopus 로고    scopus 로고
    • FUS-SMN protein interactions link the motor neuron diseases ALS and SMA
    • Yamazaki, T., Chen, S., Yan, B., Haertlein, T. C., Carrasco, M. A., Tapia, J. C., et al. (2012). FUS-SMN protein interactions link the motor neuron diseases ALS and SMA. Cell Rep. 2, 799-806. doi: 10.1016/j.celrep.2012.08.025
    • (2012) Cell Rep , vol.2 , pp. 799-806
    • Yamazaki, T.1    Chen, S.2    Yan, B.3    Haertlein, T.C.4    Carrasco, M.A.5    Tapia, J.C.6
  • 153
    • 84893301832 scopus 로고    scopus 로고
    • Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy
    • Yanyan, C., Yujin, Q., Jinli, B., Yuwei, J., Hong, W., and Fang, S. (2014). Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy. J. Hum. Genet. 59, 24-27. doi: 10.1038/jhg.2013.111
    • (2014) J. Hum. Genet , vol.59 , pp. 24-27
    • Yanyan, C.1    Yujin, Q.2    Jinli, B.3    Yuwei, J.4    Hong, W.5    Fang, S.6
  • 154
    • 84937139749 scopus 로고    scopus 로고
    • U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish
    • Yu, Y., Chi, B., Xia, W., Gangopadhyay, J., Yamazaki, T., Winkelbauer-Hurt, M. E., et al. (2015). U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish. Nucleic Acids Res. 43, 3208-3218. doi: 10.1093/nar/gkv157
    • (2015) Nucleic Acids Res , vol.43 , pp. 3208-3218
    • Yu, Y.1    Chi, B.2    Xia, W.3    Gangopadhyay, J.4    Yamazaki, T.5    Winkelbauer-Hurt, M.E.6
  • 155
    • 23844516090 scopus 로고    scopus 로고
    • Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population
    • Zaldívar, T., Montejo, Y., Acevedo, A. M., Guerra, R., Vargas, J., Garofalo, N., et al. (2005). Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population. Neurology 65, 636-638. doi: 10.1212/01.wnl.0000172860.41953.12
    • (2005) Neurology , vol.65 , pp. 636-638
    • Zaldívar, T.1    Montejo, Y.2    Acevedo, A.M.3    Guerra, R.4    Vargas, J.5    Garofalo, N.6
  • 156
    • 43049168361 scopus 로고    scopus 로고
    • SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
    • Zhang, Z., Lotti, F., Dittmar, K., Younis, I., Wan, L., Kasim, M., et al. (2008). SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell 133, 585-600. doi: 10.1016/j.cell.2008.03.031
    • (2008) Cell , vol.133 , pp. 585-600
    • Zhang, Z.1    Lotti, F.2    Dittmar, K.3    Younis, I.4    Wan, L.5    Kasim, M.6
  • 157
    • 79958787922 scopus 로고    scopus 로고
    • Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR
    • Zhong, Q., Bhattacharya, S., Kotsopoulos, S., Olson, J., Taly, V., Griffiths, A. D., et al. (2011). Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR. Lab Chip 11, 2167-2174. doi: 10.1039/c1lc20126c
    • (2011) Lab Chip , vol.11 , pp. 2167-2174
    • Zhong, Q.1    Bhattacharya, S.2    Kotsopoulos, S.3    Olson, J.4    Taly, V.5    Griffiths, A.D.6
  • 158
    • 36048985104 scopus 로고    scopus 로고
    • SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity
    • Zou, T., Ilangovan, R., Yu, F., Xu, Z., and Zhou, J. (2007). SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity. Biochem. Biophys. Res. Commun. 364, 850-855. doi: 10.1016/j.bbrc.2007.10.096
    • (2007) Biochem. Biophys. Res. Commun , vol.364 , pp. 850-855
    • Zou, T.1    Ilangovan, R.2    Yu, F.3    Xu, Z.4    Zhou, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.