532 related articles for article (PubMed ID: 18078930)
1. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy.
DiMatteo D; Callahan S; Kmiec EB
Exp Cell Res; 2008 Feb; 314(4):878-86. PubMed ID: 18078930
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector.
Baughan T; Shababi M; Coady TH; Dickson AM; Tullis GE; Lorson CL
Mol Ther; 2006 Jul; 14(1):54-62. PubMed ID: 16580882
[TBL] [Abstract][Full Text] [Related]
4. 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; Pedespan JM; Viollet L; Pénisson-Besnier I; Fehrenbach S; Bou J; Frébourg T; Tosi M
Eur J Hum Genet; 2007 Oct; 15(10):1054-62. PubMed ID: 17609673
[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. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels.
Wolstencroft EC; Mattis V; Bajer AA; Young PJ; Lorson CL
Hum Mol Genet; 2005 May; 14(9):1199-210. PubMed ID: 15790598
[TBL] [Abstract][Full Text] [Related]
7. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B
Hum Mutat; 2005 Jan; 25(1):64-71. PubMed ID: 15580564
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.
Jarecki J; Chen X; Bernardino A; Coovert DD; Whitney M; Burghes A; Stack J; Pollok BA
Hum Mol Genet; 2005 Jul; 14(14):2003-18. PubMed ID: 15944201
[TBL] [Abstract][Full Text] [Related]
10. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
Martín Y; Valero A; del Castillo E; Pascual SI; Hernández-Chico C
Hum Genet; 2002 Mar; 110(3):257-63. PubMed ID: 11935338
[TBL] [Abstract][Full Text] [Related]
11. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells.
Grzeschik SM; Ganta M; Prior TW; Heavlin WD; Wang CH
Ann Neurol; 2005 Aug; 58(2):194-202. PubMed ID: 16049920
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Zapletalová E; Hedvicáková P; Kozák L; Vondrácek P; Gaillyová R; Maríková T; Kalina Z; Jüttnerová V; Fajkus J; Fajkusová L
Neuromuscul Disord; 2007 Jun; 17(6):476-81. PubMed ID: 17475491
[TBL] [Abstract][Full Text] [Related]
14. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Wirth B
Hum Mutat; 2000; 15(3):228-37. PubMed ID: 10679938
[TBL] [Abstract][Full Text] [Related]
15. Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells.
Angelozzi C; Borgo F; Tiziano FD; Martella A; Neri G; Brahe C
J Med Genet; 2008 Jan; 45(1):29-31. PubMed ID: 17932121
[TBL] [Abstract][Full Text] [Related]
16. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
Cuscó I; López E; Soler-Botija C; Jesús Barceló M; Baiget M; Tizzano EF
Hum Mutat; 2003 Aug; 22(2):136-43. PubMed ID: 12872254
[TBL] [Abstract][Full Text] [Related]
17. Spinal muscular atrophy: state-of-the-art and therapeutic perspectives.
Wirth B
Amyotroph Lateral Scler Other Motor Neuron Disord; 2002 Jun; 3(2):87-95. PubMed ID: 12215230
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy.
Brichta L; Hofmann Y; Hahnen E; Siebzehnrubl FA; Raschke H; Blumcke I; Eyupoglu IY; Wirth B
Hum Mol Genet; 2003 Oct; 12(19):2481-9. PubMed ID: 12915451
[TBL] [Abstract][Full Text] [Related]
20. Spinal muscular atrophy diagnostics.
Prior TW
J Child Neurol; 2007 Aug; 22(8):952-6. PubMed ID: 17761649
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]