Results 101 to 110 of about 304,862 (304)

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

The brain in muscular dystrophy [PDF]

Archives of Disease in Childhood, 1997
Editor,—Lucina wonders why some boys with Duchenne muscular dystrophy (DMD) also have cognitive impairment, and whether it could be related to brain dystrophin.1 Most muscles in DMD show signs of repeated …
openaire   +2 more sources

Interspecies Translation of Disease Networks Increases Robustness and Predictive Accuracy [PDF]

, 2011
© 2011 Anvar et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Seyed Yahya Anvar, Gert-Jan B. van Ommen, Raz, V., Vered Raz, Raz, V, Ommen, G.J.B. van, Tucker, A., Tucker, A, Allan Tucker, Silvere M van der Maarel, Anvar, S.Y., van der Maarel, SM, Veronica Vinciotti, Andrea Venema, Silvere M. van der Maarel, Hoen, P.A.C. 't, Vinciotti, V., Peter A C 't Hoen, van Ommen, G-JB, Maarel, S.M. van der, Vinciotti, V, Venema, A, Anvar, SY, Venema, A., Peter A. C. ‘t Hoen, Gert-Jan B van Ommen, 't Hoen, PAC   +26 more
core   +2 more sources

Effects of oropharyngeal neuromuscular stimulation on the volumetric enlarged and reduced tongue base in minipigs

The Anatomical Record, EarlyView.
Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen, Doris Haydee Rosero Salazar, Zi‐Jun Liu   +2 more
wiley   +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

ZBED6 Knockout Promotes Skeletal Muscle Development in Bama Pigs by Relieving Transcriptional Repression of CDKN1A

Animal Research and One Health, EarlyView.
Integrated transcriptomic and functional analyses identify CDKN1A as a direct target of ZBED6 in Bama pigs. ZBED6 knockout relieves transcriptional repression of CDKN1A, thereby promoting myogenic differentiation and skeletal muscle development.
Yitian Ma, Xiu Lin, Pengtao Yuan, Yabin Pu, Yuehui Ma, Zixiao Jiang, Lin Jiang, Chongyang Li, Dandan Wang   +8 more
wiley   +1 more source

State-of-the-art Advances in Duchenne Muscular Dystrophy

European Medical Journal, 2017
Duchenne muscular dystrophy (DMD) is a severe and fatal muscle condition affecting young children. Without interventions, affected boys lose the ability to walk independently by the age of 10 and develop progressive cardiac and respiratory failure.
Henriette Van Ruiten, Katherine Bushby, Michela Guglieri   +2 more
doaj  

Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy

Cell Death and Disease
The degeneration of the muscle in muscle dystrophies involves complex interactions among the different cell types. Here, we have used datasets from single-nuclei RNA sequencing (snRNAseq) of Duchenne Muscular Dystrophy (DMD) muscle samples to study the ...
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   +1 more source

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source