Publications:

Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications

Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R

Publication Date: 2021-06-17

Variant appearance in text: DMD: 9851G>A

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.pdf

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Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping.

Stem Cell Research

Ferrari, Giulia G; Muntoni, Francesco F; Tedesco, Francesco Saverio FS

Publication Date: 2020-03

Variant appearance in text: DMD: Trp3284X

PubMed Link: 32087527

Variant Present in the following documents:

• Main text

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Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Circulation. Genomic And Precision Medicine

Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J

Publication Date: 2018-01

Variant appearance in text: DMD: 9851G>A

PubMed Link: 29874176

Variant Present in the following documents:

• hcg-11-e001782-s001.pdf

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A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.

Plos One

Sardone, Valentina V; Ellis, Matthew M; Torelli, Silvia S; Feng, Lucy L; Chambers, Darren D; Eastwood, Deborah D; Sewry, Caroline C; Phadke, Rahul R; Morgan, Jennifer E JE; Muntoni, Francesco F

Publication Date: 2018

Variant appearance in text: DMD: 9851G>A

PubMed Link: 29579078

Variant Present in the following documents:

• Main text
• pone.0194540.pdf

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Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

Plos One

Janghra, Narinder N; Morgan, Jennifer E JE; Sewry, Caroline A CA; Wilson, Francis X FX; Davies, Kay E KE; Muntoni, Francesco F; Tinsley, Jonathon J

Publication Date: 2016

Variant appearance in text: DMD: 9851G>A; Trp3284X

PubMed Link: 26974331

Variant Present in the following documents:

• Main text
• pone.0150818.pdf

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