429 related articles for article (PubMed ID: 17761653)
21. 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]
22. 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]
23. 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]
24. Clinical and genetic study of spinal muscular atrophies in Oman.
Koul R; Al Futaisi A; Chacko A; Rao V; Simsek M; Muralitharan S; Ganguly SS; Bayoumi R
J Child Neurol; 2007 Oct; 22(10):1227-30. PubMed ID: 17940251
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
Boda B; Mas C; Giudicelli C; Nepote V; Guimiot F; Levacher B; Zvara A; Santha M; LeGall I; Simonneau M
Eur J Hum Genet; 2004 Sep; 12(9):729-37. PubMed ID: 15162126
[TBL] [Abstract][Full Text] [Related]
28. In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy.
Hahnen E; Eyüpoglu IY; Brichta L; Haastert K; Tränkle C; Siebzehnrübl FA; Riessland M; Hölker I; Claus P; Romstöck J; Buslei R; Wirth B; Blümcke I
J Neurochem; 2006 Jul; 98(1):193-202. PubMed ID: 16805808
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease.
Monani UR
Neuron; 2005 Dec; 48(6):885-96. PubMed ID: 16364894
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.
Setola V; Terao M; Locatelli D; Bassanini S; Garattini E; Battaglia G
Proc Natl Acad Sci U S A; 2007 Feb; 104(6):1959-64. PubMed ID: 17261814
[TBL] [Abstract][Full Text] [Related]
33. Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN.
Olaso R; Joshi V; Fernandez J; Roblot N; Courageot S; Bonnefont JP; Melki J
Physiol Genomics; 2006 Jan; 24(2):97-104. PubMed ID: 16118268
[TBL] [Abstract][Full Text] [Related]
34. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.
Voutoufianakis S; Psoni S; Vorgia P; Tsekoura F; Kekou K; Traeger-Synodinos J; Kitsiou S; Kanavakis E; Fryssira H
Eur J Paediatr Neurol; 2007 Jul; 11(4):235-9. PubMed ID: 17276711
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. Pathogenesis of proximal autosomal recessive spinal muscular atrophy.
Simic G
Acta Neuropathol; 2008 Sep; 116(3):223-34. PubMed ID: 18629520
[TBL] [Abstract][Full Text] [Related]
38. Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells.
Renvoisé B; Khoobarry K; Gendron MC; Cibert C; Viollet L; Lefebvre S
J Cell Sci; 2006 Feb; 119(Pt 4):680-92. PubMed ID: 16449324
[TBL] [Abstract][Full Text] [Related]
39. Spinal muscular atrophy: recent advances and future prospects.
Nicole S; Diaz CC; Frugier T; Melki J
Muscle Nerve; 2002 Jul; 26(1):4-13. PubMed ID: 12115944
[TBL] [Abstract][Full Text] [Related]
40. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate.
Brichta L; Holker I; Haug K; Klockgether T; Wirth B
Ann Neurol; 2006 Jun; 59(6):970-5. PubMed ID: 16607616
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]