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Items: 1 to 20 of 185

1.

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.

2.

[Genotype-phenotype discordance in a Duchenne muscular dystrophy patient due to a novel mutation: insights into the shock absorber function of dystrophin].

López-Hernández LB, van Heusden D, Soriano-Ursúa MA, Figuera-Villanueva L, Vázquez-Cárdenas NA, Canto P, Gómez-Díaz B, Coral-Vázquez RM.

Rev Neurol. 2011 Jun 16;52(12):720-4. Spanish.

3.

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
4.

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
5.

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
6.

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.

7.

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A.

BMC Med Genet. 2012 Aug 16;13:73.

8.

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

Cunniff C, Andrews J, Meaney FJ, Mathews KD, Matthews D, Ciafaloni E, Miller TM, Bodensteiner JB, Miller LA, James KA, Druschel CM, Romitti PA, Pandya S.

J Child Neurol. 2009 Apr;24(4):425-30. doi: 10.1177/0883073808324770. Epub 2008 Dec 12.

PMID:
19074751
9.

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.

10.

Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.

Rani AQ, Sasongko TH, Sulong S, Bunyan D, Salmi AR, Zilfalil BA, Matsuo M, Zabidi-Hussin ZA.

J Neurogenet. 2013 Jun;27(1-2):11-5. doi: 10.3109/01677063.2012.762580. Epub 2013 Feb 26.

PMID:
23438214
11.

Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing.

Chen WJ, Lin QF, Zhang QJ, He J, Liu XY, Lin MT, Murong SX, Liou CW, Wang N.

Clin Chim Acta. 2013 Aug 23;423:35-8. doi: 10.1016/j.cca.2013.04.006. Epub 2013 Apr 13.

PMID:
23588064
12.

Novel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy.

Zhu JF, Liu HH, Zhou T, Tian L.

Int J Mol Med. 2013 Nov;32(5):1166-70. doi: 10.3892/ijmm.2013.1498. Epub 2013 Sep 18.

PMID:
24065205
13.

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
14.

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.

15.

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH.

J Med Genet. 2011 Nov;48(11):731-6. doi: 10.1136/jmedgenet-2011-100133. Epub 2011 Oct 3.

PMID:
21969337
16.
17.

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.

Baskin B, Banwell B, Khater RA, Hawkins C, Ray PN.

Neuromuscul Disord. 2009 Mar;19(3):189-92. doi: 10.1016/j.nmd.2008.11.003. Epub 2009 Feb 18.

PMID:
19230662
18.

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F.

Hum Mutat. 2007 Feb;28(2):183-95.

PMID:
17041906
19.

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
20.

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM.

Neuromuscul Disord. 2010 Aug;20(8):499-504. doi: 10.1016/j.nmd.2010.05.010. Epub 2010 Jul 13.

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