1
|
Markowitz JA, Singh P and Darras BT:
Spinal muscular atrophy: A clinical and research update. Pediatr
Neurol. 46:1–12. 2012. View Article : Google Scholar : PubMed/NCBI
|
2
|
Scheffer H, Cobben JM, Matthijs G and
Wirth B: Best practice guidelines for molecular analysis in spinal
muscular atrophy. Eur J Hum Genet. 9:484–491. 2001. View Article : Google Scholar : PubMed/NCBI
|
3
|
Prior TW: Perspectives and diagnostic
considerations in spinal muscular atrophy. Genet Med. 12:145–152.
2010. View Article : Google Scholar : PubMed/NCBI
|
4
|
Hendrickson BC, Donohoe C, Akmaev VR, et
al: Differences in SMN1 allele frequencies among ethnic groups
within North America. J Med Genet. 46:641–644. 2009. View Article : Google Scholar : PubMed/NCBI
|
5
|
Jedrzejowska M, Milewski M, Zimowski J, et
al: Phenotype modifiers of spinal muscular atrophy: The number of
SMN2 gene copies, deletion in the NAIP gene and probably gender
influence the course of the disease. Acta Biochim Pol. 56:103–108.
2009.PubMed/NCBI
|
6
|
Monani UR and De Vivo DC:
Neurodegeneration in spinal muscular atrophy: From disease
phenotype and animal models to therapeutic strategies and beyond.
Future Neurol. 9:49–65. 2014. View Article : Google Scholar : PubMed/NCBI
|
7
|
Ogino S, Leonard DG, Rennert H, Ewens WJ
and Wilson RB: Genetic risk assessment in carrier testing for
spinal muscular atrophy. Am J Med Genet. 110:301–307. 2002.
View Article : Google Scholar : PubMed/NCBI
|
8
|
Majumdar R, Rehana Z, Al Jumah M and
Fetaini N: Spinal muscular atrophy carrier screening by multiplex
polymerase chain reaction using dried blood spot on filter paper.
Ann Hum Genet. 69:216–221. 2005. View Article : Google Scholar : PubMed/NCBI
|
9
|
Hasanzad M, Golkar Z, Kariminejad R, et
al: Deletions in the survival motor neuron gene in Iranian patients
with spinal muscular atrophy. Ann Acad Med Singapore. 38:139–141.
2009.PubMed/NCBI
|
10
|
Hasanzad M, Azad M, Kahrizi K, et al:
Carrier frequency of SMA by quantitative analysis of the SMN1
deletion in the Iranian population. Eur J Neurol. 17:160–162. 2010.
View Article : Google Scholar : PubMed/NCBI
|
11
|
Dobrowolski SF, Pham HT, Downes FP, Prior
TW, Naylor EW and Swoboda KJ: Newborn screening for spinal muscular
atrophy by calibrated short-amplicon melt profiling. Clin Chem.
58:1033–1039. 2012. View Article : Google Scholar : PubMed/NCBI
|
12
|
Wirth B, Herz M, Wetter A, et al:
Quantitative analysis of survival motor neuron copies:
Identification of subtle SMN1 mutations in patients with spinal
muscular atrophy, genotype-phenotype correlation and implications
for genetic counseling. Am J Hum Genet. 64:1340–1356. 1999.
View Article : Google Scholar : PubMed/NCBI
|
13
|
Tizzano E and Baiget M: Molecular basis of
spinal muscular atrophy: The SMN gene. Neurologia. 15:393–400.
2000.(In Spanish). PubMed/NCBI
|
14
|
Sumner CJ: Therapeutics development for
spinal muscular atrophy. NeuroRx. 3:235–245. 2006. View Article : Google Scholar : PubMed/NCBI
|
15
|
Singh NN and Singh RN: Alternative
splicing in spinal muscular atrophy underscores the role of an
intron definition model. RNA Biol. 8:600–606. 2011. View Article : Google Scholar : PubMed/NCBI
|
16
|
Yu-Jin Q, Juan D, Er-zhen L, et al: Subtle
mutations in the SMN1 gene in Chinese patients with SMA:
p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
BMC Med Genet. 13:862012. View Article : Google Scholar : PubMed/NCBI
|
17
|
Monani UR, McPherson JD and Burghes AH:
Promoter analysis of the human centromeric and telomeric survival
motor neuron genes (SMNC and SMNT). Biochim Biophys Acta.
1445:330–336. 1999. View Article : Google Scholar : PubMed/NCBI
|
18
|
Anhuf D, Eggermann T, Rudnik-Schöneborn S
and Zerres K: Determination of SMN1 and SMN2 copy number using
TaqMan technology. Hum Mutat. 22:74–78. 2003. View Article : Google Scholar : PubMed/NCBI
|
19
|
Yoon S, Lee CH and Lee KA: Determination
of SMN1 and SMN2 copy numbers in a Korean population using
multiplex ligation-dependent probe amplification. Korean J Lab Med.
30:93–96. 2010. View Article : Google Scholar : PubMed/NCBI
|
20
|
Ye S, Dhillon S, Ke X, Collins AR and Day
IN: An efficient procedure for genotyping single nucleotide
polymorphisms. Nucleic Acids Res. 29:E88. 2001. View Article : Google Scholar : PubMed/NCBI
|
21
|
Cheng CY, Kao WH, Patterson N, et al:
Admixture mapping of 15,280 African Americans identifies obesity
susceptibility loci on chromosomes 5 and X. PLoS Genet.
5:e10004902009. View Article : Google Scholar : PubMed/NCBI
|
22
|
Guthrie PA, Gaunt TR, Abdollahi MR, et al:
Amplification ratio control system for copy number variation
genotyping. Nucleic Acids Res. 39:e542011. View Article : Google Scholar : PubMed/NCBI
|
23
|
Ben-Shachar S, Orr-Urtreger A, Bardugo E,
Shomrat R and Yaron Y: Large-scale population screening for spinal
muscular atrophy: Clinical implications. Genet Med. 13:110–114.
2011. View Article : Google Scholar : PubMed/NCBI
|
24
|
Wirth B: 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.
2000. View Article : Google Scholar : PubMed/NCBI
|
25
|
Muralidharan K, Wilson RB, Ogino S, Nagan
N, Curtis C and Schrijver I: Population carrier screening for
spinal muscular atrophy a position statement of the association for
molecular pathology. J Mol Diagn. 13:3–6. 2011. View Article : Google Scholar : PubMed/NCBI
|
26
|
Siegel R, Naishadham D and Jemal A: Cancer
statistics for Hispanics/Latinos, 2012. CA: Cancer J Clin.
62:283–298. 2012.PubMed/NCBI
|
27
|
Sugarman EA, Nagan N, Zhu H, et al:
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. 2012. View Article : Google Scholar : PubMed/NCBI
|
28
|
Moreno-Estrada A, Gignoux CR,
Fernández-López JC, et al: Human genetics. The genetics of Mexico
recapitulates Native American substructure and affects biomedical
traits. Science. 344:1280–1285. 2014. View Article : Google Scholar : PubMed/NCBI
|
29
|
Basel-Vanagaite L, Taub E, Drasinover V,
et al: Genetic carrier screening for spinal muscular atrophy and
spinal muscular atrophy with respiratory distress 1 in an isolated
population in Israel. Genet Test. 12:53–56. 2008. View Article : Google Scholar : PubMed/NCBI
|
30
|
Arkblad E, Tulinius M, Kroksmark AK,
Henricsson M and Darin N: A population-based study of genotypic and
phenotypic variability in children with spinal muscular atrophy.
Acta Paediatr. 98:865–872. 2009. View Article : Google Scholar : PubMed/NCBI
|