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Items: 1 to 20 of 126

1.

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
2.

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
3.

[From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy].

den Dunnen JT, de Visser M, Bakker E.

Ned Tijdschr Geneeskd. 2002 Feb 23;146(8):364-7. Review. Dutch.

PMID:
11887623
4.

[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
5.

Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy.

Pandey GS, Kesari A, Mukherjee M, Mittal RD, Mittal B.

Neurol India. 2003 Sep;51(3):367-9.

6.

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.

7.

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.

Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A, den Dunnen JT, Verbist BM, Bakker E, Verschuuren JJ, Ginjaar HB.

Neuromuscul Disord. 2010 Apr;20(4):251-4. doi: 10.1016/j.nmd.2010.01.013. Epub 2010 Feb 13.

PMID:
20153965
8.

Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy.

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

Neuromuscul Disord. 2002 Oct;12 Suppl 1:S71-7.

PMID:
12206800
9.

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ, den Dunnen JT.

Hum Mutat. 2009 Mar;30(3):293-9. doi: 10.1002/humu.20918. Review.

PMID:
19156838
10.

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.

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

Hum Mol Genet. 2003 Apr 15;12(8):907-14.

PMID:
12668614
11.

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.

Lo IF, Lai KK, Tong TM, Lam ST.

Chin Med J (Engl). 2006 Jul 5;119(13):1079-87.

PMID:
16834926
12.

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, Nishio H, Matsuo M.

J Hum Genet. 2010 Jun;55(6):379-88. doi: 10.1038/jhg.2010.49. Epub 2010 May 20.

PMID:
20485447
13.

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
14.

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. Erratum in: Brain. 2016 Apr;139(Pt 4):e27.

15.

Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families.

Elhawary NA, Shawky RM, Hashem N.

Mol Cells. 2004 Oct 31;18(2):141-9. Erratum in: Mol Cells. 2005 Feb 28;19(1):155. Nasser A, Elhawary [corrected to Elhawary, Nasser A].

16.

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.

Kesari A, Pirra LN, Bremadesam L, McIntyre O, Gordon E, Dubrovsky AL, Viswanathan V, Hoffman EP.

Hum Mutat. 2008 May;29(5):728-37. doi: 10.1002/humu.20722.

PMID:
18348289
17.

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
18.

[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
19.

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.

Todorova A, Todorov T, Georgieva B, Lukova M, Guergueltcheva V, Kremensky I, Mitev V.

Neuromuscul Disord. 2008 Aug;18(8):667-70. doi: 10.1016/j.nmd.2008.06.369. Epub 2008 Jul 23.

PMID:
18653336
20.

Proximal dystrophin gene deletions and protein alterations in becker muscular dystrophy.

Novaković I, Bojić D, Todorović S, Apostolski S, Luković L, Stefanović D, Milasin J.

Ann N Y Acad Sci. 2005 Jun;1048:406-10.

PMID:
16154963

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