duchenne muscular dystrophy gene Recently Published Documents

Muscular Dystrophy ◽

Gene Carriers

Symptomatic female carriers of mutations in the Duchenne muscular dystrophy gene

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20200061 ◽

2020 ◽

Vol 78 (9) ◽

pp. 598-599

Author(s):

Marcelo Maroco CRUZEIRO ◽

Thiago Cardoso VALE ◽

Carlo Domenico MARRONE

Keyword(s):

Muscular Dystrophy ◽

Female Carriers

The discovery of dystrophin, the protein product of the Duchenne muscular dystrophy gene

FEBS Journal ◽

10.1111/febs.15466 ◽

2020 ◽

Vol 287 (18) ◽

pp. 3879-3887

Author(s):

Eric P. Hoffman

Keyword(s):

Muscular Dystrophy ◽

Protein Product ◽

A symptomatic female patient with duchenne muscular dystrophy gene mutation showing rimmed vacuoles in muscle biopsy

Neurology India ◽

10.4103/0028-3886.284351 ◽

2020 ◽

Vol 68 (2) ◽

pp. 518

Author(s):

Xianghui Lu ◽

Rui Ban ◽

Chuanqiang Pu ◽

Qiang Shi ◽

Huifang Wang ◽

...

Keyword(s):

Muscular Dystrophy ◽

Female Patient ◽

Gene Mutation ◽

Muscle Biopsy ◽

Rimmed Vacuoles ◽

A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene

Journal of Clinical Laboratory Analysis ◽

10.1002/jcla.22575 ◽

2018 ◽

Vol 32 (8) ◽

pp. e22575 ◽

Cited By ~ 1

Author(s):

Chang Liu ◽

Huiting Deng ◽

Cheng Yang ◽

Xixi Li ◽

Yanrong Zhu ◽

...

Keyword(s):

Next Generation Sequencing ◽

Muscular Dystrophy ◽

Multiplex Pcr ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Exonic Deletion ◽

Generation Sequencing ◽

Dependent Probe

Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene

Genes ◽

10.3390/8100251 ◽

2017 ◽

Vol 8 (10) ◽

pp. 251

Author(s):

Masafumi Matsuo ◽

Hiroyuki Awano ◽

Masaaki Matsumoto ◽

Masashi Nagai ◽

Tatsuya Kawaguchi ◽

...

Keyword(s):

Muscular Dystrophy ◽

Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene

Genes ◽

10.3390/genes8100251 ◽

2017 ◽

Vol 8 (10) ◽

pp. 251 ◽

Cited By ~ 9

Author(s):

Masafumi Matsuo ◽

Hiroyuki Awano ◽

Masaaki Matsumoto ◽

Masashi Nagai ◽

Tatsuya Kawaguchi ◽

...

Keyword(s):

Muscular Dystrophy ◽

Mass spectrometric identification of dystrophin, the protein product of the Duchenne muscular dystrophy gene, in distinct muscle surface membranes

International Journal of Molecular Medicine ◽

10.3892/ijmm.2017.3082 ◽

2017 ◽

Vol 40 (4) ◽

pp. 1078-1088 ◽

Cited By ~ 6

Author(s):

Sandra Murphy ◽

Kay Ohlendieck

Keyword(s):

Muscular Dystrophy ◽

Protein Product ◽

Mass Spectrometric ◽

Spectrometric Identification ◽

Mass Spectrometric Identification

Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy

Journal of Human Genetics ◽

10.1038/jhg.2016.152 ◽

2016 ◽

Vol 62 (4) ◽

pp. 459-463 ◽

Cited By ~ 26

Author(s):

Akinori Nakamura ◽

Naoko Shiba ◽

Daigo Miyazaki ◽

Hitomi Nishizawa ◽

Yuji Inaba ◽

...

Keyword(s):

Muscular Dystrophy ◽

Exon Skipping ◽

Perspective on Adeno-Associated Virus Capsid Modification for Duchenne Muscular Dystrophy Gene Therapy

Human Gene Therapy ◽

10.1089/hum.2015.107 ◽

2015 ◽

Vol 26 (12) ◽

pp. 786-800 ◽

Cited By ~ 23

Author(s):

Michael E. Nance ◽

Dongsheng Duan

Keyword(s):

Gene Therapy ◽

Muscular Dystrophy ◽

Virus Capsid ◽

Adeno Associated Virus ◽