Results 31 to 40 of about 51,867 (216)

Development of the accredited duchenne centers program, a global program to achieve uniform and up-to-date care for all people living with duchenne muscular dystrophy

Orphanet Journal of Rare Diseases
The Accredited Duchenne Centers (ADC) Program is a global program initiated by the World Duchenne Organization (WDO). The aim of the ADC Program is to achieve global, uniform and up-to-date care for all people living with Duchenne Muscular Dystrophy (DMD)
Imelda J. M. de Groot, Karolina Podolská, Nathalie Goemans, Suzie-Ann Bakker, Nawel Lalout, Merel Jansen, Elizabeth Vroom   +6 more
doaj   +1 more source

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials [PDF]

, 2016
With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M, Pane, M, Ricotti, V, Manzur, AY, on behalf of UK NorthStar Clinical Network, ., Muntoni, F, Ridout, DA, Mercuri, E, Mayhew, A   +8 more
core  

Regulation of the lncRNA NEAT1 by p53‐ΔNp63 crosstalk modulates the DNA damage response and therapeutic efficacy in HNSCC

Molecular Oncology, EarlyView.
In head and neck squamous cell carcinoma (HNSCC) p53 and p63 exert opposite roles on the transcription regulation of the lncRNA NEAT1. Under basal conditions, p53 levels are low and p63 represses NEAT1 expression. Upon genotoxic stress, p53 is rapidly induced, displacing p63 from the NEAT1 promoter leading to NEAT1 transcriptional activation and ...
Sara De Domenico, Veronica La Banca, Silvia D'Amico, Stefano Scalera, Sara Nicolai, Angelo Peschiaroli   +5 more
wiley   +1 more source

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Main, M, Morgan, JE, Straub, V, Feng, L, Sewry, CA, Muntoni, F, Lehovsky, J, Arechavala-Gomeza, V, Kinali, M, Hunt, D, Guglieri, M, Bushby, K, Edge, G   +12 more
core  

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Myogenic Fusogen‐Engineered Lipid Nanoparticles Enhance mRNA Delivery in Skeletal Muscle

Advanced Functional Materials, EarlyView.
This study reports a biomimetic strategy of engineering full‐length Myomaker, a muscle‐specific fusogen, into lipid nanoparticles (LNPs) to harness the native myoblast fusion capability for skeletal muscle mRNA delivery. The resulting Mymk‐LNPs enhance transfection in differentiating myocytes and enable Cre‐mediated reporter activation in injured ...
Fangyu Zhang, Zhisheng Xu, Yaou Duan, Yehui Sun, Shiying Wu, Tao Long, Mateusz Durbacz, Li Zhang, Yufen Xiao, Yu‐Chung Pien, Erick D. Guerrero, Zeru Tian, Xu Wang, Pratima Basak, Sumanta Chatterjee, Ning Liu, Xiaochun Li, Eric N. Olson, Daniel J. Siegwart   +18 more
wiley   +1 more source

Proximity Begins with a Smile, But Which One? Associating Non-duchenne Smiles with Higher Psychological Distance

Frontiers in Psychology, 2017
This study reveals that Duchenne (genuine) and non-Duchenne (non-genuine, polite) smiles are implicitly associated with psychological proximity and distance, respectively.
Yevgen Bogodistov, Florian Dost
doaj   +1 more source

Bottom‐Up Engineering of a Human Neuromuscular System for Modeling Activity‐Induced Remodeling, Metabolic Stress, and Endothelial‐Modulated Excitability

Advanced Materials, EarlyView.
Using a bottom‐up approach, we engineered a human neuromuscular microchip to investigate distinct adaptive responses to neural stimulation and metabolic stress. Further integration of endothelial cells revealed their critical role in modulating neuromuscular excitability, establishing a comprehensive neurovascular‐muscular model.
Jinchul Ahn, Min‐seop Kim, Ju‐Hee Kim, Seok‐Hyeon Kang, Dain Lee, Hui‐Wen Liu, Seung‐cheol Shin, Kyuhwan Na, Yesl Jun, Oak‐Kee Hong, Ji Hun Yang, Jin‐A Kim, Hwanseok Jang, Hong Nam Kim, Roger D. Kamm, Ji‐Hoon Kim, Jang‐Won Son, Seok Chung   +17 more
wiley   +1 more source

Epidemiology and healthcare resource utilisation associated with Duchenne muscular dystrophy

Journal of Rare Diseases
Background This study aimed to describe the prevalence of Duchenne muscular dystrophy (DMD) and associated healthcare resource utilisation and costs from an England perspective.
Christopher Llewellyn Morgan, Josie Godfrey, Fleur Chandler, Emily Reuben, Craig J. Currie   +4 more
doaj   +1 more source

Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study. [PDF]

PLoS ONE, 2016
Altered neuronal nitric oxide synthase function in Duchenne muscular dystrophy leads to impaired mitochondrial function which is thought to be one cause of muscle damage in this disease.
Patricia Hafner, Ulrike Bonati, Beat Erne, Maurice Schmid, Daniela Rubino, Urs Pohlman, Thomas Peters, Erich Rutz, Stephan Frank, Cornelia Neuhaus, Stefanie Deuster, Monika Gloor, Oliver Bieri, Arne Fischmann, Michael Sinnreich, Nuri Gueven, Dirk Fischer   +16 more
doaj   +1 more source