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Items: 1 to 20 of 139

1.

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.

Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF, Krainer AR.

Nature. 2011 Oct 5;478(7367):123-6. doi: 10.1038/nature10485.

2.

Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report.

Chandran S, McCarthy J, Noonan K, Mann D, Nemeth B, Guiliani T.

J Pediatr Orthop. 2011 Jun;31(4):450-4. doi: 10.1097/BPO.0b013e31821722b1.

PMID:
21572284
3.

Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy.

Butchbach ME, Rose FF Jr, Rhoades S, Marston J, McCrone JT, Sinnott R, Lorson CL.

Biochem Biophys Res Commun. 2010 Jan 1;391(1):835-40. doi: 10.1016/j.bbrc.2009.11.148. Epub 2009 Nov 27.

4.

A positive modifier of spinal muscular atrophy in the SMN2 gene.

Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT.

Am J Hum Genet. 2009 Sep;85(3):408-13. doi: 10.1016/j.ajhg.2009.08.002. Epub 2009 Aug 27.

5.

Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice.

Sumner CJ, Wee CD, Warsing LC, Choe DW, Ng AS, Lutz C, Wagner KR.

Hum Mol Genet. 2009 Sep 1;18(17):3145-52. doi: 10.1093/hmg/ddp253. Epub 2009 May 28.

6.

Interfamilial phenotypic heterogeneity in SMARD1.

Joseph S, Robb SA, Mohammed S, Lillis S, Simonds A, Manzur AY, Walter S, Wraige E.

Neuromuscul Disord. 2009 Mar;19(3):193-5. doi: 10.1016/j.nmd.2008.11.013. Epub 2009 Jan 20.

PMID:
19157874
7.

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.

Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Saladino F, Bordoni A, Fortunato F, Del Bo R, Papadimitriou D, Locatelli F, Menozzi G, Strazzer S, Bresolin N, Comi GP.

J Clin Invest. 2008 Oct;118(10):3316-30. doi: 10.1172/JCI35432.

8.

Daily salbutamol in young patients with SMA type II.

Pane M, Staccioli S, Messina S, D'Amico A, Pelliccioni M, Mazzone ES, Cuttini M, Alfieri P, Battini R, Main M, Muntoni F, Bertini E, Villanova M, Mercuri E.

Neuromuscul Disord. 2008 Jul;18(7):536-40. doi: 10.1016/j.nmd.2008.05.004. Epub 2008 Jun 24.

PMID:
18579379
9.

Survival in SMA type I: a prospective analysis of 34 consecutive cases.

Cobben JM, Lemmink HH, Snoeck I, Barth PA, van der Lee JH, de Visser M.

Neuromuscul Disord. 2008 Jul;18(7):541-4. doi: 10.1016/j.nmd.2008.05.008. Epub 2008 Jun 24.

PMID:
18579378
10.

Spinal muscular atrophy.

Lunn MR, Wang CH.

Lancet. 2008 Jun 21;371(9630):2120-33. doi: 10.1016/S0140-6736(08)60921-6. Review.

PMID:
18572081
11.

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B.

Science. 2008 Apr 25;320(5875):524-7. doi: 10.1126/science.1155085.

12.

Feeding problems and malnutrition in spinal muscular atrophy type II.

Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Bertini E, Mercuri E.

Neuromuscul Disord. 2008 May;18(5):389-93. doi: 10.1016/j.nmd.2008.02.008. Epub 2008 Apr 16.

PMID:
18420410
13.

The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against.

Ryan MM.

Paediatr Respir Rev. 2008 Mar;9(1):51-4; discussion 55-6. doi: 10.1016/j.prrv.2007.10.002. Epub 2008 Feb 1. Review.

PMID:
18280980
14.

The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for.

Bach JR.

Paediatr Respir Rev. 2008 Mar;9(1):45-50; quiz 50; discussion 55-6. doi: 10.1016/j.prrv.2007.11.003. Epub 2008 Feb 1. Review.

PMID:
18280979
15.

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.

Gavrilina TO, McGovern VL, Workman E, Crawford TO, Gogliotti RG, DiDonato CJ, Monani UR, Morris GE, Burghes AH.

Hum Mol Genet. 2008 Apr 15;17(8):1063-75. doi: 10.1093/hmg/ddm379. Epub 2008 Jan 4.

16.

The effect of hydroxyurea in spinal muscular atrophy cells and patients.

Liang WC, Yuo CY, Chang JG, Chen YC, Chang YF, Wang HY, Ju YH, Chiou SS, Jong YJ.

J Neurol Sci. 2008 May 15;268(1-2):87-94. doi: 10.1016/j.jns.2007.11.012. Epub 2007 Dec 31.

PMID:
18166199
17.

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 15;314(4):878-86. Epub 2007 Oct 24.

PMID:
18078930
18.

Physiologic benefits of mechanical insufflation-exsufflation in children with neuromuscular diseases.

Fauroux B, Guillemot N, Aubertin G, Nathan N, Labit A, Clément A, Lofaso F.

Chest. 2008 Jan;133(1):161-8. Epub 2007 Dec 10.

PMID:
18071020
19.

The changing natural history of spinal muscular atrophy type 1.

Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, Kaufmann P.

Neurology. 2007 Nov 13;69(20):1931-6.

PMID:
17998484
20.

Consensus statement for standard of care in spinal muscular atrophy.

Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A; Participants of the International Conference on SMA Standard of Care.

J Child Neurol. 2007 Aug;22(8):1027-49.

PMID:
17761659
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