Results 111 to 120 of about 39,769 (244)

Cognitive Function in Duchenne Muscular Dystrophy Patients

Neurologijos seminarai
Duchenne muscular dystrophy is a rare, progressive, X-linked recessive disorder, characterized by impaired synthesis of the protein dystrophin. Motor symptoms in boys typically emerge within the first year of life, followed by progressive cardiac ...
Viktorija Urbanovič, Jurgita Grikinienė   +1 more
doaj   +1 more source

The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys

, 2014
Marika Pane, Elena Mazzone, Serena Sivo, Lavinia Fanelli, Roberto De Sanctis, Adele D’Amico, Roberta Battini, Flaviana Bianco, Marianna Scutifero, Roberta Petillo, Silvia Frosini, Roberta Scalise, Gian Luca Vita, Claudio Bruno, Marina Pedemonte, Tiziana Mongini, Elena Pegoraro, Francesca Brustia, Alice Gardani, Angela Berardinelli, Valentina Lanzillotta, Emanuela Viggiano, Filippo Cavallaro, Maria Sframeli, Luca Bello, Andrea Barp, S Bonfiglio, Enrica Rolle, Giulia Colia, Anna Maria Bonetti, Concetta Palermo, Alessandra Graziano, Maria Grazia D’Angelo, Antonella Pini, Alice Corlatti, Ksenija Gorni, Giovanni Baranello, Laura Antonaci, Enrico Bertini, Luisa Politano, Eugenio Mercuri   +40 more
openalex   +1 more source

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, Volume 10, Issue 2, 22 January 2026.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance [PDF]

, 2012
Giulia Paolella, Pasquale Pisano, Raffaele Albano, Lucio Cannaviello, Carolina Saori Ishii Mauro, Gabriella Esposito, Pietro Vajro   +6 more
openalex   +1 more source

Can You See Us Play? Observing Inclusive Outdoor Play Behaviour Among Children With and Without Disabilities: A Mixed Methods Study

Child: Care, Health and Development, Volume 52, Issue 1, January 2026.
ABSTRACT Background Outdoor play is essential for children's development. However, children with disabilities face barriers in outdoor play. In the Netherlands, there are limited opportunities for children with and without disabilities to play together.
R. Q. Beekhuizen, M. A. T. Bloemen, E. A. M. Bolster, K. Visser, R. van der Lugt, M. Bassa, N. L. Henry, E. M. W. Kotte, M. van Hartingsveldt, J. W. Gorter   +9 more
wiley   +1 more source

Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP

JCI Insight
Skeletal muscle wasting results from numerous pathological conditions affecting both the musculoskeletal and nervous systems. A unifying feature of these pathologies is the upregulation of members of the E3 ubiquitin ligase family, resulting in increased
Avnika A. Ruparelia, Margo Montandon, Jo Merriner, Cheng Huang, Siew Fen Lisa Wong, Carmen Sonntag, Justin P. Hardee, Gordon S. Lynch, Lee B. Miles, Ashley Siegel, Thomas E. Hall, Ralf B. Schittenhelm, Peter D. Currie   +12 more
doaj   +1 more source

Volitional exercise elicits physiological and molecular improvements in the severe D2.mdx mouse model of Duchenne muscular dystrophy

The Journal of Physiology, Volume 604, Issue 2, Page 849-867, 15 January 2026.
Abstract figure legend This study investigated the effects of volitional exercise on muscle health in the more severe D2.mdx model of Duchenne muscular dystrophy (DMD). We showed that 8–10 weeks of a relatively high volume of voluntary wheel running (VWR) in D2.mdx animals augmented select muscle mass and normalized ex vivo muscle force compared to ...
Stephanie R. Mattina, Sean Y. Ng, Andrew I. Mikhail, Derek W. Stouth, Cora E. Jornacion, Irena A. Rebalka, Thomas J. Hawke, Vladimir Ljubicic   +7 more
wiley   +1 more source

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis

, 2018
Abdallah Fayssoil, Rabah Ben Yaou, Adam Ogna, Cendrine Chaffaut, France Leturcq, Olivier Nardi, Karim Wahbi, Denis Duboc, Frédéric Lofaso, Hélène Prigent, Bernard Clair, Pascal Crenn, Guillaume Nicolas, Pascal Laforêt, Anthony Béhin, Sylvie Chevret, David Orlikowski, Djillali Annane   +17 more
openalex   +2 more sources

Live‐imaging of revertant and therapeutically restored dystrophin in the Dmd^EGFP‐mdx mouse model for Duchenne muscular dystrophy [PDF]

, 2020
Mina Petkova, Amalia Stantzou, A. Morin, Olga N. Petrova, Susanne Morales-Gonzalez, Franziska Seifert, J. Bellec-Dyèvre, Tudor Manoliu, Aurélie Goyenvalle, Laurynn Garcia, Isabelle Richard, Corinne Laplace‐Builhé, Markus Schuelke, Helge Amthor   +13 more
openalex   +1 more source

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source