共 260 条
[1]
Prior TW(2010)Perspectives and diagnostic considerations in spinal muscular atrophy Genet Med. 12 145-152
[2]
Russman BS(2007)Spinal muscular atrophy: clinical classification and disease heterogeneity J Child Neurol 22 946-951
[3]
Wirth B(2000)An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) Hum Mutat 15 228-237
[4]
Kolb SJ(2011)Spinal muscular atrophy: a timely review Arch Neurol 68 979-984
[5]
Kissel JT(2012)Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens Eur J Hum Genet 20 27-32
[6]
Sugarman EA(1997)Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7 Neurogenetics. 1 141-147
[7]
Nagan N(2008)Carrier screening for spinal muscular atrophy Genet Med. 10 840-842
[8]
Zhu H(2018)Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases Neuromuscul Disord 28 208-215
[9]
Akmaev VR(2018)Gene therapy for spinal muscular atrophy: an emerging treatment option for a devastating disease J Manag Care Spec Pharm 24 S3-S16
[10]
Zhou Z(2002)Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2 Genet Med. 4 20-26