Results 1 to 10 of about 78,714 (166)

Correction: Impact of C4BPA on Muscle progenitor cell differentiation: insights for Duchenne muscular dystrophy treatment [PDF]

Cell Death and Disease
Esther Fernández-Simón, Ainoa Tejedera-Villafranca, Xiomara Fernández-Garabay, James Clark, Panagiotis Katsikis, Priyanka Mehra, Andrew Galloway, Alexandra Monceau, Elisa Villalobos, Dan Cox, Javier Ramón-Azcón, Juan M. Fernández-Costa, Jordi Díaz-Manera   +12 more
doaj   +2 more sources

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Communications Biology, 2022
A method to isolate and sequence individual nuclei from human and mouse muscle biopsies provides further insight into the mechanisms of dystrophin loss and repair, in the context of Duchenne muscular dystrophy.
Deirdre D. Scripture-Adams, Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves-Rodriguez, Derek W. Wang, Ekaterina I. Mokhonova, Emilie D. Douine, Jijun Wan, Isaiah Little, Laura N. Rabichow, Stanley F. Nelson, M. Carrie Miceli   +12 more
doaj   +1 more source

Correction: Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy [PDF]

Cell Death and Disease
Esther Fernández-Simón, Ainoa Tejedera-Villafranca, Xiomara Fernández-Garabay, James Clark, Alexandra Monceau, Elisa Villalobos, Dan Cox, Javier Ramón Azcón, Juan M. Fernández-Costa, Jordi Diaz-Manera   +9 more
doaj   +2 more sources

Triazine-cored polymeric vectors for antisense oligonucleotide delivery in vitro and in vivo

Journal of Nanobiotechnology, 2020
Background The polymer-based drug/gene delivery is promising for the treatment of inherent or acquire disease, because of the polymer’s structural flexibility, larger capacity for therapeutic agent, low host immunogenicity and less cost.
Mingxing Wang, Bo Wu, Jason D. Tucker, Sapana N. Shah, Peijuan Lu, Qilong Lu   +5 more
doaj   +1 more source

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

Cell Death and Disease, 2023
Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdu-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Diaz-Manera   +21 more
doaj   +1 more source

Muscular dystrophy [PDF]

Neuropathology, 2000
Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
  +7 more sources

Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy

Orphanet Journal of Rare Diseases, 2019
Background Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their ...
Brian Denger, Kathi Kinnett, Ann Martin, Sean Grant, Courtney Armstrong, Dmitry Khodyakov   +5 more
doaj   +1 more source

DUX4 Role in Normal Physiology and in FSHD Muscular Dystrophy

Cells, 2021
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4) has gone from being an obscure entity to being a key factor in important physiological and pathological processes.
Emanuele Mocciaro, Valeria Runfola, Paola Ghezzi, Maria Pannese, Davide Gabellini   +4 more
doaj   +1 more source

Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry

BMC Neurology, 2019
Background Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. Methods This retrospective analysis assessed corticosteroid use in ambulatory and nonambulatory US males ...
Leslie Cowen, Maria Mancini, Ann Martin, Ann Lucas, Joanne M. Donovan   +4 more
doaj   +1 more source

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Orphanet Journal of Rare Diseases, 2017
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity.
Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller   +7 more
doaj   +1 more source