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Items: 1 to 20 of 102

1.

The genetics of spinal muscular atrophies.

Wee CD, Kong L, Sumner CJ.

Curr Opin Neurol. 2010 Oct;23(5):450-8. doi: 10.1097/WCO.0b013e32833e1765. Review.

PMID:
20733483
2.

The Genetics of Spinal Muscular Atrophy: Progress and Challenges.

Farrar MA, Kiernan MC.

Neurotherapeutics. 2015 Apr;12(2):290-302. doi: 10.1007/s13311-014-0314-x. Review.

3.

Spinal muscular atrophy.

Talbot K, Davies KE.

Semin Neurol. 2001 Jun;21(2):189-97. Review.

PMID:
11442327
4.

Spinal muscular atrophies reveal motor neuron vulnerability to defects in ribonucleoprotein handling.

Anderson K, Talbot K.

Curr Opin Neurol. 2003 Oct;16(5):595-9. Review.

PMID:
14501843
5.

Spinal muscular atrophies.

Viollet L, Melki J.

Handb Clin Neurol. 2013;113:1395-411. doi: 10.1016/B978-0-444-59565-2.00010-1. Review.

PMID:
23622363
6.

Disease mechanisms and therapeutic approaches in spinal muscular atrophy.

Tisdale S, Pellizzoni L.

J Neurosci. 2015 Jun 10;35(23):8691-700. doi: 10.1523/JNEUROSCI.0417-15.2015. Review.

7.

Spinal muscular atrophies.

Darras BT.

Pediatr Clin North Am. 2015 Jun;62(3):743-66. doi: 10.1016/j.pcl.2015.03.010. Epub 2015 Apr 11. Review.

PMID:
26022173
8.

Therapeutics development for spinal muscular atrophy.

Sumner CJ.

NeuroRx. 2006 Apr;3(2):235-45. Review.

9.

Spinal Muscular Atrophy Therapeutics: Where do we Stand?

d'Ydewalle C, Sumner CJ.

Neurotherapeutics. 2015 Apr;12(2):303-16. doi: 10.1007/s13311-015-0337-y. Review.

10.

Spinal muscular atrophy: recent advances and future prospects.

Nicole S, Diaz CC, Frugier T, Melki J.

Muscle Nerve. 2002 Jul;26(1):4-13. Review.

PMID:
12115944
11.

X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.

Hodgkinson VL, Dale JM, Garcia ML, Weisman GA, Lee J, Gitlin JD, Petris MJ.

J Pathol. 2015 Jun;236(2):241-50. doi: 10.1002/path.4511. Epub 2015 Mar 3.

12.
13.

Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials.

Zanetta C, Nizzardo M, Simone C, Monguzzi E, Bresolin N, Comi GP, Corti S.

Clin Ther. 2014 Jan 1;36(1):128-40. doi: 10.1016/j.clinthera.2013.11.006. Epub 2013 Dec 17. Review.

PMID:
24360800
14.

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA).

Zanetta C, Riboldi G, Nizzardo M, Simone C, Faravelli I, Bresolin N, Comi GP, Corti S.

J Cell Mol Med. 2014 Feb;18(2):187-96. doi: 10.1111/jcmm.12224. Epub 2014 Jan 8. Review.

15.

Spinal muscular atrophy.

Cifuentes-Diaz C, Frugier T, Melki J.

Semin Pediatr Neurol. 2002 Jun;9(2):145-50. Review.

PMID:
12138998
16.

Spinal muscular atrophy: the RNP connection.

Eggert C, Chari A, Laggerbauer B, Fischer U.

Trends Mol Med. 2006 Mar;12(3):113-21. Epub 2006 Feb 13.

PMID:
16473550
17.

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B.

Hum Mol Genet. 1995 Oct;4(10):1927-33.

PMID:
8595417
18.

Spinal muscular atrophy--recent therapeutic advances for an old challenge.

Faravelli I, Nizzardo M, Comi GP, Corti S.

Nat Rev Neurol. 2015 Jun;11(6):351-9. doi: 10.1038/nrneurol.2015.77. Epub 2015 May 19. Review.

PMID:
25986506
19.

Spinal muscular atrophy: diagnosis and management in a new therapeutic era.

Arnold WD, Kassar D, Kissel JT.

Muscle Nerve. 2015 Feb;51(2):157-67. doi: 10.1002/mus.24497. Epub 2014 Dec 16. Review.

20.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN.

Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14.

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