Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 145

1.

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

Nicolas A, Lucchetti-Miganeh C, Yaou RB, Kaplan JC, Chelly J, Leturcq F, Barloy-Hubler F, Le Rumeur E.

Orphanet J Rare Dis. 2012 Jul 9;7:45. doi: 10.1186/1750-1172-7-42.

2.

Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients.

Tran VK, Ta VT, Vu DC, Nguyen ST, Do HN, Ta MH, Tran TH, Matsuo M.

J Neurogenet. 2013 Dec;27(4):170-5. doi: 10.3109/01677063.2013.830616. Epub 2013 Oct 7.

PMID:
24099565
3.

[Deletions in the dystrophin gene and its phenotype expression].

Lalić T, Guć-Sćekić M, Djurisić M, Radivojević D, Zamurović D, Todorović S.

Srp Arh Celok Lek. 2001 May-Jun;129 Suppl 1:3-5. Serbian.

PMID:
15637982
4.

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT.

Muscle Nerve. 2006 Aug;34(2):135-44. Review.

PMID:
16770791
5.

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Magri F, Del Bo R, D'Angelo MG, Govoni A, Ghezzi S, Gandossini S, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Cereda M, Corti S, Moggio M, Bresolin N, Comi GP.

BMC Med Genet. 2011 Mar 11;12:37. doi: 10.1186/1471-2350-12-37.

6.

[Correlation between genotypes and phenotypes in pseudohypertrophic muscular dystrophy].

Feng SW, Liang YY, Cao JQ, Song XM, Zhang C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):653-7. doi: 10.3760/cma.j.issn.1003-9406.2012.06.006. Chinese.

PMID:
23225043
7.

Bioinformatic and functional optimization of antisense phosphorodiamidate morpholino oligomers (PMOs) for therapeutic modulation of RNA splicing in muscle.

Popplewell LJ, Graham IR, Malerba A, Dickson G.

Methods Mol Biol. 2011;709:153-78. doi: 10.1007/978-1-61737-982-6_10.

PMID:
21194027
8.

[Mutation-specific treatments for Duchenne muscular dystrophy].

Matsuo M, Takeshima Y.

Brain Nerve. 2009 Aug;61(8):915-22. Review. Japanese.

PMID:
19697880
9.

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy.

van den Bergen JC, Schade van Westrum SM, Dekker L, van der Kooi AJ, de Visser M, Wokke BH, Straathof CS, Hulsker MA, Aartsma-Rus A, Verschuuren JJ, Ginjaar HB.

J Neurol Neurosurg Psychiatry. 2014 Jan;85(1):92-8. doi: 10.1136/jnnp-2012-304729. Epub 2013 May 10.

PMID:
23667215
11.

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.

Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM.

Ann Neurol. 2008 Jan;63(1):81-9.

PMID:
18059005
12.

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.

13.

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Gentil C, Leturcq F, Ben Yaou R, Kaplan JC, Laforet P, Pénisson-Besnier I, Espil-Taris C, Voit T, Garcia L, Piétri-Rouxel F.

Hum Mol Genet. 2012 Aug 1;21(15):3449-60. doi: 10.1093/hmg/dds176. Epub 2012 May 15.

14.

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M.

Hum Mutat. 2009 Jun;30(6):934-45. doi: 10.1002/humu.20976.

PMID:
19367636
15.

[Duchenne's and Becker's muscular dystrophy: analysis of phenotype-genotype correlation in 28 patients] ].

Keckarević M, Savić D, Culjković B, Zamurović N, Major T, Keckarević D, Todorović S, Romac S.

Srp Arh Celok Lek. 2002 May-Jun;130(5-6):154-8. Serbian.

16.

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
17.

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.

18.

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.

19.

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.

20.
Items per page

Supplemental Content

Write to the Help Desk