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Results: 1 to 20 of 121

1.

Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype.

Witting N, Duno M, Vissing J.

Acta Myol. 2011 Dec;30(3):182-4.

PMID:
22616200
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.

Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F.

JAMA Neurol. 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908.

PMID:
24217213
[PubMed - indexed for MEDLINE]
3.

Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2.

Witting N, Duno M, Vissing J.

Neuromuscul Disord. 2013 Jan;23(1):25-8. doi: 10.1016/j.nmd.2012.07.004. Epub 2012 Aug 28.

PMID:
22939275
[PubMed - indexed for MEDLINE]
4.

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.

Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van den Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F.

Brain. 2011 Dec;134(Pt 12):3547-59. doi: 10.1093/brain/awr291. Epub 2011 Nov 18.

PMID:
22102647
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Duchenne muscular dystrophy: a clinical, histopathological and genetic study at a neurology tertiary care center in Southern India.

Swaminathan B, Shubha GN, Shubha D, Murthy AR, Kiran Kumar HB, Shylashree S, Gayathri N, Jamuna R, Jain S, Purushottam M, Nalini A.

Neurol India. 2009 Nov-Dec;57(6):734-8. doi: 10.4103/0028-3886.59468.

PMID:
20139501
[PubMed - indexed for MEDLINE]
Free Article
6.

Homozygous female Becker muscular dystrophy.

Fujii K, Minami N, Hayashi Y, Nishino I, Nonaka I, Tanabe Y, Takanashi J, Kohno Y.

Am J Med Genet A. 2009 May;149A(5):1052-5. doi: 10.1002/ajmg.a.32808.

PMID:
19396825
[PubMed - indexed for MEDLINE]
7.

[Four siblings with becker muscular dystrophy (BMD) manifesting severe mental retardation].

Futamura N, Kawamoto K, Takahashi K, Funakawa I, Jinnai K.

Rinsho Shinkeigaku. 2006 Jan;46(1):62-5. Japanese.

PMID:
16541798
[PubMed - indexed for MEDLINE]
8.

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense.

Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, van Ommen GJ, den Dunnen JT, van Deutekom JC.

Am J Hum Genet. 2004 Jan;74(1):83-92. Epub 2003 Dec 16.

PMID:
14681829
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion.

Ferreiro V, Giliberto F, Muñiz GM, Francipane L, Marzese DM, Mampel A, Roqué M, Frechtel GD, Szijan I.

Muscle Nerve. 2009 Feb;39(2):239-43. doi: 10.1002/mus.21193.

PMID:
19012301
[PubMed - indexed for MEDLINE]
10.

Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach.

Freund AA, Scola RH, Arndt RC, Lorenzoni PJ, Kay CK, Werneck LC.

Arq Neuropsiquiatr. 2007 Mar;65(1):73-6.

PMID:
17420831
[PubMed - indexed for MEDLINE]
Free Article
11.

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M.

Hum Mutat. 2007 Feb;28(2):196-202.

PMID:
17041910
[PubMed - indexed for MEDLINE]
12.

Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series.

Ramelli GP, Joncourt F, Luetschg J, Weis J, Tolnay M, Burgunder JM.

Swiss Med Wkly. 2006 Mar 18;136(11-12):189-93.

PMID:
16633967
[PubMed - indexed for MEDLINE]
Free Article
13.

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells.

van Deutekom JC, Bremmer-Bout M, Janson AA, Ginjaar IB, Baas F, den Dunnen JT, van Ommen GJ.

Hum Mol Genet. 2001 Jul 15;10(15):1547-54.

PMID:
11468272
[PubMed - indexed for MEDLINE]
Free Article
14.

Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns.

Dastur RS, Gaitonde PS, Khadilkar SV, Nadkarni JJ.

Neurol India. 2008 Jul-Sep;56(3):374-8.

PMID:
18974567
[PubMed - indexed for MEDLINE]
Free Article
15.

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.

Tran VK, Takeshima Y, Zhang Z, Yagi M, Nishiyama A, Habara Y, Matsuo M.

J Med Genet. 2006 Dec;43(12):924-30. Epub 2006 May 31.

PMID:
16738009
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.

Miyazaki D, Yoshida K, Fukushima K, Nakamura A, Suzuki K, Sato T, Takeda S, Ikeda S.

J Hum Genet. 2009 Feb;54(2):127-30. doi: 10.1038/jhg.2008.8. Epub 2009 Jan 9.

PMID:
19158820
[PubMed - indexed for MEDLINE]
17.

Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation.

Wibawa T, Takeshima Y, Mitsuyoshi I, Wada H, Surono A, Nakamura H, Matsuo M.

Brain Dev. 2000 Mar;22(2):107-12.

PMID:
10722962
[PubMed - indexed for MEDLINE]
18.

Deletion of exon 16 of the dystrophin gene is not associated with disease.

Schwartz M, Dunø M, Palle AL, Krag T, Vissing J.

Hum Mutat. 2007 Feb;28(2):205.

PMID:
17226814
[PubMed - indexed for MEDLINE]
19.

Phenotype-genotype analysis of dystrophinopathy caused by duplication mutation in Dystrophin gene in an African patient.

Peddareddygari LR, Pillai BH, Nochlin D, Sharer LR, Grewal RP.

Afr Health Sci. 2011 Dec;11(4):607-9.

PMID:
22649443
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Therapy of Duchenne muscular dystrophy with umbilical cord blood stem cell transplantation].

Zhang C, Feng HY, Huang SL, Fang JP, Xiao LL, Yao XL, Chen C, Ye X, Zeng Y, Lu XL, Wen JM, Zhang WX, Li Z, Feng SW, Xu HG, Huang K, Zhou DH, Chen W, Xie YM, Xi J, Zhang M, Li Y, Liu Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):399-405. Chinese.

PMID:
16086277
[PubMed - indexed for MEDLINE]

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