7Monani UR,Lorson CL,Parsons DW,et al.A single nucleotide difference that alter spilcing patterns distinguishes the SMA gene SMN1 from the copy SMN2[J].Hum Mol Genet,1999,8:1177-1183.
8Lorson CL,Androphy EJ.An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN[J].Hum Mol Genet,2000,9:259-265.
10Amy MA,Barrington GB,Addis AT,et al.Trichostatin A increase SMN expression and survival in a mouse model of spinal muscular atrophy[J].J Clin Inves,2007,117(3):659-671.
8[1]Coovert DC, Le TT, McAndrew PE ,et al. The survival motor neuron protein in spinal muscular atrophy [ J ]. Hum Mol C enet, 1997,6:1 205-1 214.
9[2]Battalia G, Princivalle A, Forti F, et al. Expression of the SMN gene, the spinal muscular atrophy determining gene,in the mammalian central nervous system[J]. Hum Mol Genet, 1997,6:1 961-1 971.
10[3]Pagliardini S,Giavazzi A, Setola V,et al. Subcellular localization and axonal transport of the survival motor neuron ( SMN ) protein in the developing rat spinal cord [J]. Hum Mol Genet, 2000, 9:47-56.
1Meldrum C, Scott C, Swoboda KJ. Spinal muscular atro- phy genetic counseling access and genetic knowledge: par ents'perspestiveseJ. J Child Neurol, 2007,22 (8) : 1019 1026.
2Aesadi G, Li X, Murphy K J, et al. Alpha-synuclein loss in spinal muscular atrophy[J]. J Mol Neurosci, 2011,43 (3) : 275-283.
3Alias L,Bernal S, Fuentes Prior P, et al. Mutation update of spinal muscular atrophy in Spain: molecular character- ization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene[J]. Hum Genet,2009, 125(1) :29-39.
4Zhang Y,Huang JJ,Wang ZQ,et al. Value of muscle en- zyme measurement in evalualing different neuromuscular diseases[J]. Clin Chim Acta,2012,413(3/4) :520-524.
5Brahe C, Servidei S, Zappata S, et al. Genetic homogeneity be tween childhood-onset and adult-onset autosomal recessive spinal muscular atrophy[J]. Lancet, 1995,346 (8977) : 741- 742.
6Zerres K, Rudnik SS, Forker R, et al. Genetic basis of a- dult-onset spinal muscular atrophy[J]. Lancet, 1995,346 (8983) :1162.
7Martin Y, Valero A, del Castillo E, et al. Genetic study of SMA patients without homozygous SMN1 deletions:iden- tification of compound heterozygotes and characterization of novel intragenic SMN1 mutation [J]. Hum Genet,2002,110(3):257-263.
