Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

VE Kimonis, MJ Kovach, B Waggoner, S Leal… - Genetics in …, 2000 - Elsevier
Purpose To characterize the clinical features and perform linkage analysis of candidate loci
in a large Illinois family with autosomal dominant limb-girdle muscular dystrophy (LGMD) …

Muscle stem/progenitor cells and mesenchymal stem cells of bone marrow origin for skeletal muscle regeneration in muscular dystrophies

A Klimczak, U Kozlowska, M Kurpisz - Archivum immunologiae et …, 2018 - Springer
Muscular dystrophies represent a group of diseases which may develop in several forms,
and severity of the disease is usually associated with gene mutations. In skeletal muscle …

High dose weekly oral prednisone improves strength in boys with Duchenne muscular dystrophy

AM Connolly, J Schierbecker, R Renna… - Neuromuscular …, 2002 - Elsevier
Daily prednisone improves strength in boys with Duchenne muscular dystrophy, but side
effects are almost universal. We used a different dosing regimen of prednisone to determine …

Myotoxic phospholipases A2 and the regeneration of skeletal muscles

JB Harris - Toxicon, 2003 - Elsevier
The review explains why the myotoxic phospholipases A2 and cardiotoxins are such
important tools in the study of the regeneration and maturation of mammalian skeletal …

Therapeutic genome editing for myotonic dystrophy type 1 using CRISPR/Cas9

Y Wang, L Hao, H Wang, K Santostefano, A Thapa… - Molecular Therapy, 2018 - cell.com
Abstract Myotonic dystrophy type 1 (DM1) is caused by a CTG nucleotide repeat expansion
within the 3'-untranslated region (3'-UTR) of the Dystrophia Myotonica protein kinase gene …

Dual AAV Gene Therapy for Duchenne Muscular Dystrophy with a 7-kb Mini-Dystrophin Gene in the Canine Model

K Kodippili, CH Hakim, X Pan, HT Yang, Y Yue… - Human gene …, 2018 - liebertpub.com
Dual adeno-associated virus (AAV) technology was developed in 2000 to double the
packaging capacity of the AAV vector. The proof of principle has been demonstrated in …

Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells

E Bachrach, S Li, AL Perez… - Proceedings of the …, 2004 - National Acad Sciences
Cell-based therapy for Duchenne muscular dystrophy patients and mdx mice has proven to
be a safe but ineffective form of treatment. Recently, a group of cells called muscle side …

Skeletal muscle fibrosis in the mdx/utrn+/-mouse validates its suitability as a murine model of Duchenne muscular dystrophy

KM Gutpell, WT Hrinivich, LM Hoffman - PloS one, 2015 - journals.plos.org
Various therapeutic approaches have been studied for the treatment of Duchenne muscular
dystrophy (DMD), but none of these approaches have led to significant long-term effects in …

PAX7 targets, CD54, integrin α9β1, and SDC2, allow isolation of human ESC/iPSC-derived myogenic progenitors

A Magli, T Incitti, J Kiley, SA Swanson, R Darabi… - Cell reports, 2017 - cell.com
Summary Pluripotent stem (PS)-cell-derived cell types hold promise for treating
degenerative diseases. However, PS cell differentiation is intrinsically heterogeneous; …

Biological approaches to improve skeletal muscle healing after injury and disease

B Gharaibeh, Y Chun‐Lansinger… - … Research Part C …, 2012 - Wiley Online Library
Skeletal muscle injury and repair are complex processes, including well‐coordinated steps
of degeneration, inflammation, regeneration, and fibrosis. We have reviewed the recent …