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JCI Insight
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September 21, 2018
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies
Peter R Serafini, Michael J Feyder, Rylie M Hightower, et al.
Biorxiv : the Preprint Server for Biology
|
October 24, 2023
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)
Kaiyue Ma, Shushu Huang, Kenneth K Ng, et al.
Cell
|
September 26, 2024
Saturation mutagenesis-reinforced functional assays for disease-related genes
Kaiyue Ma, Shushu Huang, Kenneth K Ng, et al.
Science Translational Medicine
|
March 28, 2020
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy
Angela Lek, Yuanfan Zhang, Keryn G Woodman, et al.
Journal of Neuropathology and Experimental Neurology
|
March 18, 2011
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch
Leigh B Waddell, Frances A Lemckert, Xi F Zheng, et al.
The Journal of Clinical Investigation
|
May 3, 2014
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms
Matthew S Alexander, Juan Carlos Casar, Norio Motohashi, et al.
The Journal of Clinical Investigation
|
October 17, 2023
Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases
Xuefei Tian, Christopher E Pedigo, Ke Li, et al.
The New England Journal of Medicine
|
September 27, 2023
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy
Angela Lek, Brenda Wong, Allison Keeler, et al.
Neuromuscular Disorders : NMD
|
September 26, 2025
Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy
Jodi M Wolff, Nora Capocci, Evrim Atas, et al.
Nature Genetics
|
January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
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of 4
Search research articles
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Showing results (21-30 of 31) with videos related to
Sort By:
Page
of 4
JCI Insight
|
September 21, 2018
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies
Peter R Serafini, Michael J Feyder, Rylie M Hightower, et al.
Biorxiv : the Preprint Server for Biology
|
October 24, 2023
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)
Kaiyue Ma, Shushu Huang, Kenneth K Ng, et al.
Cell
|
September 26, 2024
Saturation mutagenesis-reinforced functional assays for disease-related genes
Kaiyue Ma, Shushu Huang, Kenneth K Ng, et al.
Science Translational Medicine
|
March 28, 2020
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy
Angela Lek, Yuanfan Zhang, Keryn G Woodman, et al.
Journal of Neuropathology and Experimental Neurology
|
March 18, 2011
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch
Leigh B Waddell, Frances A Lemckert, Xi F Zheng, et al.
The Journal of Clinical Investigation
|
May 3, 2014
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms
Matthew S Alexander, Juan Carlos Casar, Norio Motohashi, et al.
The Journal of Clinical Investigation
|
October 17, 2023
Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases
Xuefei Tian, Christopher E Pedigo, Ke Li, et al.
The New England Journal of Medicine
|
September 27, 2023
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy
Angela Lek, Brenda Wong, Allison Keeler, et al.
Neuromuscular Disorders : NMD
|
September 26, 2025
Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy
Jodi M Wolff, Nora Capocci, Evrim Atas, et al.
Nature Genetics
|
January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Page
of 4