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Results: 18

1.

Cystic fibrosis newborn screening: a model for neuromuscular disease screening?

Scully MA, Farrell PM, Ciafaloni E, Griggs RC, Kwon JM.

Ann Neurol. 2015 Feb;77(2):189-97. doi: 10.1002/ana.24316. Epub 2014 Dec 13. Review.

PMID:
25425541
2.

TRPV4-Associated Disorders.

Schindler A, Sumner C, Hoover-Fong JE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2014 May 15.

3.

New developments in exon skipping and splice modulation therapies for neuromuscular diseases.

Touznik A, Lee JJ, Yokota T.

Expert Opin Biol Ther. 2014 Jun;14(6):809-19. doi: 10.1517/14712598.2014.896335. Epub 2014 Mar 12. Review.

PMID:
24620745
4.

Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases.

Veltrop M, Aartsma-Rus A.

Exp Cell Res. 2014 Jul 1;325(1):50-5. doi: 10.1016/j.yexcr.2014.01.026. Epub 2014 Jan 31. Review.

PMID:
24486759
5.

Mitochondrial dysfunction in neuromuscular disorders.

Katsetos CD, Koutzaki S, Melvin JJ.

Semin Pediatr Neurol. 2013 Sep;20(3):202-15. doi: 10.1016/j.spen.2013.10.010. Epub 2013 Nov 5. Review.

PMID:
24331362
6.

Neuromuscular scoliosis.

Allam AM, Schwabe AL.

PM R. 2013 Nov;5(11):957-63. doi: 10.1016/j.pmrj.2013.05.015. Review.

PMID:
24247014
7.

Early onset (childhood) monogenic neuropathies.

Landrieu P, Baets J.

Handb Clin Neurol. 2013;115:863-91. doi: 10.1016/B978-0-444-52902-2.00049-7. Review.

PMID:
23931819
8.

Medical and psychosocial considerations in rehabilitation care of childhood neuromuscular diseases.

Vanasse M, Paré H, Zeller R.

Handb Clin Neurol. 2013;113:1491-5. doi: 10.1016/B978-0-444-59565-2.00019-8. Review.

PMID:
23622372
9.

Anesthesia and spinal muscle atrophy.

Islander G.

Paediatr Anaesth. 2013 Sep;23(9):804-16. doi: 10.1111/pan.12159. Epub 2013 Apr 19. Review.

PMID:
23601145
10.

Antisense therapy in neurology.

Lee JJ, Yokota T.

J Pers Med. 2013 Aug 2;3(3):144-76. doi: 10.3390/jpm3030144. Review.

11.

Inherited myelopathies.

Maas JW Jr.

Semin Neurol. 2012 Apr;32(2):114-22. doi: 10.1055/s-0032-1322581. Epub 2012 Sep 8. Review.

PMID:
22961186
12.

TRPV4-associated skeletal dysplasias.

Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Review.

PMID:
22791502
13.

Oxidative stress in developmental brain disorders.

Hayashi M, Miyata R, Tanuma N.

Adv Exp Med Biol. 2012;724:278-90. doi: 10.1007/978-1-4614-0653-2_21. Review.

PMID:
22411250
14.

Inherited neuromuscular disorders: pathway to diagnosis.

Menezes MP, North KN.

J Paediatr Child Health. 2012 Jun;48(6):458-65. doi: 10.1111/j.1440-1754.2011.02210.x. Epub 2011 Nov 3. Review.

PMID:
22050238
15.

Motor neuron, nerve, and neuromuscular junction disease.

Finsterer J, Papić L, Auer-Grumbach M.

Curr Opin Neurol. 2011 Oct;24(5):469-74. doi: 10.1097/WCO.0b013e32834a9448. Review.

PMID:
21825986
16.

Transient receptor potential genes and human inherited disease.

Everett KV.

Adv Exp Med Biol. 2011;704:1011-32. doi: 10.1007/978-94-007-0265-3_52. Review.

PMID:
21290338
17.

TRPV4-pathy, a novel channelopathy affecting diverse systems.

Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S.

J Hum Genet. 2010 Jul;55(7):400-2. doi: 10.1038/jhg.2010.37. Epub 2010 May 27. Review.

PMID:
20505684
18.

Spinal Muscular Atrophy, X-Linked Infantile.

Baumbach-Reardon L, Sacharow S, Ahearn ME.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2008 Oct 30 [updated 2012 Sep 13].

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