Results 101 to 110 of about 157,656 (310)

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

Adaptive Machine Learning Framework for Optimizing the Affinity Purification of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai, Shriarjun Shastry, Morgan R. Hurst, Arianna Minzoni, Eduardo Barbieri, Luke Remmler, Eugene N. Muratov, Michael A. Daniele, Stefano Menegatti, Alexander Tropsha   +9 more
wiley   +1 more source

Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration

Scientific Reports
Becker muscular dystrophy (BMD) is characterised by fiber loss and expansion of fibrotic and adipose tissue. Several cells interact locally in what is known as the degenerative niche.
Patricia Piñol-Jurado, José Verdú-Díaz, Esther Fernández-Simón, Cristina Domínguez-González, Aurelio Hernández-Lain, Conor Lawless, Amy Vincent, Alejandro González-Chamorro, Elisa Villalobos, Alexandra Monceau, Zoe Laidler, Priyanka Mehra, James Clark, Andrew Filby, David McDonald, Paul Rushton, Andrew Bowey, Jorge Alonso Pérez, Giorgio Tasca, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Xavier Suárez-Calvet, Jordi Díaz-Manera   +23 more
doaj   +1 more source

Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims

BMC Medical Research Methodology, 2019
Background Muscular dystrophies (MDs) are a group of inherited conditions characterized by progressive muscle degeneration and weakness. The rarity and heterogeneity of the population with MD have hindered therapeutic developments as well as ...
Xiaoxue Chen, Abiy Agiro, Ann S. Martin, Ann M. Lucas, Kevin Haynes   +4 more
doaj   +1 more source

Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V, Betts, C A, Gait, M J, Godfrey, C, Hammond, S M, Healicon, R, Manzano, R, McClorey, G, Merritt, T M, Muses, S, O'Donovan, L, Tyler, D, Wells, D J, Wells, K E, Westering, T, Wood, M J   +15 more
core   +3 more sources

A Mechanistic Model of rAAV Production in Synthetic Cell Lines

Biotechnology and Bioengineering, EarlyView.
ABSTRACT The recombinant adeno‐associated virus (rAAV) is a widely used vector for gene therapy. Its manufacturing faces significant challenges in producing the large quantities of vectors needed for clinical applications and reducing empty particles.
Prahalad Srinivasan, Han‐Jung Kuo, Yu‐Chieh Lin, Yen‐An Lu, Wei‐Shou Hu, Qi Zhang   +5 more
wiley   +1 more source

Ribitol and ribose treatments differentially affect metabolism of muscle tissue in FKRP mutant mice

Scientific Reports
Dystroglycanopathy is characterized by reduced or lack of matriglycan, a cellular receptor for laminin as well as other extracellular matrix proteins. Recent studies have delineated the glycan chain structure of the matriglycan and the pathway with key ...
Marcela P. Cataldi, Qi L. Lu
doaj   +1 more source

Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice

Molecular Therapy: Nucleic Acids, 2018
Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A,5 ...
Jason D. Tucker, Pei J. Lu, Xiao Xiao, Qi L. Lu   +3 more
doaj   +1 more source

Optimization of CEST MRI Reporter Protein Design Using Cation‐Pi Networks

Chemistry – A European Journal, EarlyView.
A novel engineering approach can produce reporter proteins for cell and viral therapy tracking with unique magnetic resonance imaging (MRI) signatures, detectable with chemical exchange saturation transfer (CEST). We discover how cation‐π interactions between amino acid groups can help us fine‐tune magnetic resonance properties for noninvasive ...
David E. Korenchan, Ethan J. French, Emerenziana Runco, Chetan B. Dhakan, Jinwu Yan, Hiroshi Nakashima, Michael T. McMahon, Assaf A. Gilad, Christian T. Farrar   +8 more
wiley   +1 more source

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice [PDF]

, 2015
Duchenne muscular dystrophy (DMD) is characterized by progressive lethal muscle degeneration and chronic inflammatory response. The mdx mouse strain has served as the animal model for human DMD. However, while DMD patients undergo extensive necrosis, the
Berardinelli, Maria Grazia, Camilli, Carlotta, Catizone, Angela, De Benedetti, Fabrizio, Forcina, Laura, Musarò, Antonio, Nicoletti, Carmine, Pelosi, Laura, Rizzuto, Emanuele, Spelta, Elisa, Testa, Erika   +10 more
core   +2 more sources