PMC Links for Nucleotide (Select 256355061) - PMC

Select item 70014311.

A Novel Mutation in N-Terminal Actin-Binding Domain of the DMD Gene Presenting Becker Muscular Dystrophy as Recurrent Exertional Rhabdomyolysis: A Case Report

Jong-Mok Lee

Ann Indian Acad Neurol. 2020 Jan-Feb; 23(1): 123–125. doi: 10.4103/aian.AIAN_215_19

PMCID:: PMC7001431

Article PDF–1.2M

Select item 68071502.

MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai

Xing Ji, Jingmin Zhang, Yan Xu, Fei Long, Wei Sun, Xiaoqin Liu, Yingwei Chen, Wenting Jiang

J Clin Lab Anal. 2015 Sep; 29(5): 405–411. Published online 2014 Aug 17. doi: 10.1002/jcla.21787

PMCID:: PMC6807150

Article PDF–249K

Select item 68046403.

Breakpoint junction features of seven DMD deletion mutations

Niall P. Keegan, Steve D. Wilton, Sue Fletcher

Hum Genome Var. 2019; 6: 39. Published online 2019 Aug 22. doi: 10.1038/s41439-019-0070-x

PMCID:: PMC6804640

Article PDF–1.4M

Select item 60187434.

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

Jesus Mates, Irene Mademont-Soler, Bernat del Olmo, Carles Ferrer-Costa, Monica Coll, Alexandra Pérez-Serra, Ferran Picó, Catarina Allegue, Anna Fernandez-Falgueras, Patricia Álvarez, Raquel Yotti, Maria Angeles Espinosa, Georgia Sarquella-Brugada, Sergi Cesar, Ester Carro, Josep Brugada, Elena Arbelo, Pablo Garcia-Pavia, Mar Borregan, Eduardo Tizzano, Amador López-Granados, Francisco Mazuelos, Aranzazu Díaz de Bustamante, Maria Teresa Darnaude, José Ignacio González-Hevia, Felícitas Díaz-Flores, Francisco Trujillo, Anna Iglesias, Francisco Fernandez-Aviles, Oscar Campuzano, Ramon Brugada

Eur J Hum Genet. 2018 Jul; 26(7): 1014–1025. Published online 2018 Mar 6. doi: 10.1038/s41431-018-0119-1

PMCID:: PMC6018743

Article PDF–1.3M

Select item 60186975.

Clinical Utility Gene Card for: Becker muscular dystrophy

David Coote, Mark R. Davis, Macarena Cabrera, Merrilee Needham, Nigel G. Laing, Kristen J. Nowak

Eur J Hum Genet. 2018 Jul; 26(7): 1065–1071. Published online 2018 Feb 21. doi: 10.1038/s41431-017-0064-4

PMCID:: PMC6018697

Article PDF–398K

Select item 59457916.

CUGC for Duchenne muscular dystrophy (DMD)

David J. Coote, Mark R. Davis, Macarena Cabrera, Merrilee Needham, Nigel G. Laing, Kristen J. Nowak

Eur J Hum Genet. 2018 May; 26(5): 749–757. Published online 2018 Jan 12. doi: 10.1038/s41431-017-0013-2

PMCID:: PMC5945791

Article PDF–450K

Select item 56267797.

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Nathalie Doorenweerd, Ahmed Mahfouz, Maaike van Putten, Rajaram Kaliyaperumal, Peter A. C. t’ Hoen, Jos G. M. Hendriksen, Annemieke M. Aartsma-Rus, Jan J. G. M. Verschuuren, Erik H. Niks, Marcel J. T. Reinders, Hermien E. Kan, Boudewijn P. F. Lelieveldt

Sci Rep. 2017; 7: 12575. Published online 2017 Oct 3. doi: 10.1038/s41598-017-12981-5

Correction in:: Sci Rep. 2018; 8: 4058.

PMCID:: PMC5626779

Article PDF–7.7M

Select item 55365628.

Distribution of dystrophin gene deletions in a Chinese population

Yuanyuan Li, Zhuo Liu, Shengrong OuYang, Yanli Zhu, Liwen Wang, Jianxin Wu

J Int Med Res. 2016 Feb; 44(1): 99–108. Published online 2016 Jan 19. doi: 10.1177/0300060515613223

PMCID:: PMC5536562

Article PDF–246K

Select item 50276739.

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy

Jaya Punetha, Simin Mansoor, Tulio E Bertorini, Akanchha Kesari, Kristy J Brown, Eric P Hoffman

Eur J Hum Genet. 2016 Oct; 24(10): 1511–1514. Published online 2016 Mar 9. doi: 10.1038/ejhg.2016.22

PMCID:: PMC5027673

Article PDF–8.0M

Select item 497711010.

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study

Luca Bello, Lauren P. Morgenroth, Heather Gordish-Dressman, Eric P. Hoffman, Craig M. McDonald, Sebahattin Cirak

Neurology. 2016 Jul 26; 87(4): 401–409. doi: 10.1212/WNL.0000000000002891

PMCID:: PMC4977110

Article PDF–579K

Select item 470635011.

Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies

Toh Zhi Yon Charles, May Thandar Aung-Htut, Gavin Pinniger, Abbie M. Adams, Sudarsan Krishnaswarmy, Brenda L. Wong, Sue Fletcher, Steve D. Wilton

PLoS One. 2016; 11(1): e0145620. Published online 2016 Jan 8. doi: 10.1371/journal.pone.0145620

PMCID:: PMC4706350

Article PDF–9.2M

Select item 452196712.

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient

Kane Greer, Kayla Mizzi, Emily Rice, Lukas Kuster, Roberto A Barrero, Matthew I Bellgard, Bryan J Lynch, Aileen Reghan Foley, Eoin O Rathallaigh, Steve D Wilton, Sue Fletcher

Mol Genet Genomic Med. 2015 Jul; 3(4): 320–326. Published online 2015 Apr 15. doi: 10.1002/mgg3.144

PMCID:: PMC4521967

Article PDF–1.1M

Select item 439447813.

Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies

Luz Berenice López-Hernández, Benjamín Gómez-Díaz, Alexandra Berenice Luna-Angulo, Mónica Anaya-Segura, David John Bunyan, Carolina Zúñiga-Guzman, Rosa Elena Escobar-Cedillo, Bladimir Roque-Ramírez, Luis Angel Ruano-Calderón, Héctor Rangel-Villalobos, Julia Angélica López-Hernández, Francisco Javier Estrada-Mena, Silvia García, Ramón Mauricio Coral-Vázquez

Int J Mol Sci. 2015 Mar; 16(3): 5334–5346. Published online 2015 Mar 9. doi: 10.3390/ijms16035334

PMCID:: PMC4394478

Article PDF–1.4M

Select item 424461314.

Importance of genetic evaluation and testing in pediatric cardiomyopathy

Muhammad Tariq, Stephanie M Ware

World J Cardiol. 2014 Nov 26; 6(11): 1156–1165. Published online 2014 Nov 26. doi: 10.4330/wjc.v6.i11.1156

PMCID:: PMC4244613

Article PDF–899K

Select item 348859315.

Multiple exon skipping strategies to by-pass dystrophin mutations

Carl F. Adkin, Penelope L. Meloni, Susan Fletcher, Abbie M. Adams, Francesco Muntoni, Brenda Wong, Steve D. Wilton

Neuromuscul Disord. 2012 Apr; 22(4): 297–305. doi: 10.1016/j.nmd.2011.10.007

PMCID:: PMC3488593

Article

Select item 333184516.

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy

Marcella Neri, Emanuele Valli, Giovanna Alfano, Matteo Bovolenta, Pietro Spitali, Claudio Rapezzi, Francesco Muntoni, Sandro Banfi, Giovanni Perini, Francesca Gualandi, Alessandra Ferlini

BMC Med Genet. 2012; 13: 20. Published online 2012 Mar 28. doi: 10.1186/1471-2350-13-20

PMCID:: PMC3331845

Article PDF–501K

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