149 related articles for article (PubMed ID: 15164419)
1. Nucleotide differences in SMN1 and SMN2 gene.
Kesari A; Mittal B
Prenat Diagn; 2004 May; 24(5):398. PubMed ID: 15164419
[No Abstract] [Full Text] [Related]
2. Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.
Gamez J; Also E; Alias L; Corbera-Bellalta M; Barceló MJ; Centeno M; Raguer N; Gratacós M; Baiget M; Tizzano EF
Clin Neurol Neurosurg; 2007 Dec; 109(10):844-8. PubMed ID: 17850955
[TBL] [Abstract][Full Text] [Related]
3. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.
Thurmond J; Butchbach ME; Palomo M; Pease B; Rao M; Bedell L; Keyvan M; Pai G; Mishra R; Haraldsson M; Andresson T; Bragason G; Thosteinsdottir M; Bjornsson JM; Coovert DD; Burghes AH; Gurney ME; Singh J
J Med Chem; 2008 Feb; 51(3):449-69. PubMed ID: 18205293
[TBL] [Abstract][Full Text] [Related]
4. Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S; Wilson RB
Expert Rev Mol Diagn; 2004 Jan; 4(1):15-29. PubMed ID: 14711346
[TBL] [Abstract][Full Text] [Related]
5. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.
Su YN; Hung CC; Li H; Lee CN; Cheng WF; Tsao PN; Chang MC; Yu CL; Hsieh WS; Lin WL; Hsu SM
Hum Mutat; 2005 May; 25(5):460-7. PubMed ID: 15832310
[TBL] [Abstract][Full Text] [Related]
6. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
Veldink JH; Kalmijn S; Van der Hout AH; Lemmink HH; Groeneveld GJ; Lummen C; Scheffer H; Wokke JH; Van den Berg LH
Neurology; 2005 Sep; 65(6):820-5. PubMed ID: 16093455
[TBL] [Abstract][Full Text] [Related]
7. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.
Botta A; Tacconelli A; Bagni I; Giardina E; Bonifazi E; Pietropolli A; Clementi M; Novelli G
Neurology; 2005 Nov; 65(10):1631-5. PubMed ID: 16301493
[TBL] [Abstract][Full Text] [Related]
8. Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1.
Ogino S; Gao S; Leonard DG; Paessler M; Wilson RB
Eur J Hum Genet; 2003 Mar; 11(3):275-7. PubMed ID: 12673282
[TBL] [Abstract][Full Text] [Related]
9. An intronic element contributes to splicing repression in spinal muscular atrophy.
Kashima T; Rao N; Manley JL
Proc Natl Acad Sci U S A; 2007 Feb; 104(9):3426-31. PubMed ID: 17307868
[TBL] [Abstract][Full Text] [Related]
10. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
Arkblad EL; Darin N; Berg K; Kimber E; Brandberg G; Lindberg C; Holmberg E; Tulinius M; Nordling M
Neuromuscul Disord; 2006 Dec; 16(12):830-8. PubMed ID: 17049859
[TBL] [Abstract][Full Text] [Related]
11. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.
Sutomo R; Akutsu T; Takeshima Y; Nishio H; Sadewa AH; Harada Y; Matsuo M
Am J Med Genet; 2002 Nov; 113(2):225-6. PubMed ID: 12407717
[No Abstract] [Full Text] [Related]
12. Spinal muscular atrophy: from gene to therapy.
Wirth B; Brichta L; Hahnen E
Semin Pediatr Neurol; 2006 Jun; 13(2):121-31. PubMed ID: 17027862
[TBL] [Abstract][Full Text] [Related]
13. Best practice guidelines for molecular analysis in spinal muscular atrophy.
Scheffer H; Cobben JM; Matthijs G; Wirth B
Eur J Hum Genet; 2001 Jul; 9(7):484-91. PubMed ID: 11464239
[TBL] [Abstract][Full Text] [Related]
14. SMN2 deletion in childhood-onset spinal muscular atrophy.
Cobben JM; de Visser M
Am J Med Genet; 2002 May; 109(3):246; author reply 247. PubMed ID: 11977191
[No Abstract] [Full Text] [Related]
15. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy.
Kashima T; Manley JL
Nat Genet; 2003 Aug; 34(4):460-3. PubMed ID: 12833158
[TBL] [Abstract][Full Text] [Related]
16. Comment on SMN2 deletion in childhood-onset spinal muscular atrophy.
Ogino S; Van Deerlin VM; Wilson RB
Am J Med Genet; 2002 May; 109(3):243-4; author reply 245. PubMed ID: 11977189
[No Abstract] [Full Text] [Related]
17. Determination of SMN1 and SMN2 copy number using TaqMan technology.
Anhuf D; Eggermann T; Rudnik-Schöneborn S; Zerres K
Hum Mutat; 2003 Jul; 22(1):74-8. PubMed ID: 12815596
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
Kesari A; Rennert H; Leonard DG; Phadke SR; Mittal B
Prenat Diagn; 2005 Aug; 25(8):641-4. PubMed ID: 16049987
[TBL] [Abstract][Full Text] [Related]
19. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis.
Chen WJ; Wu ZY; Lin MT; Su JF; Lin Y; Murong SX; Wang N
Arch Neurol; 2007 Feb; 64(2):225-31. PubMed ID: 17296838
[TBL] [Abstract][Full Text] [Related]
20. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy.
Wang CC; Chang JG; Ferrance J; Chen HY; You CY; Chang YF; Jong YJ; Wu SM; Yeh CH
Electrophoresis; 2008 Jul; 29(13):2904-11. PubMed ID: 18546169
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]