Results 41 to 50 of about 36,350 (272)

Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry

European Journal of Neurology, Volume 30, Issue 2, Page 399-412, February 2023., 2023
Abstract Background and purpose Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS‐CoV‐2 is limited. The aim of this study was to determine factors associated with the severity of COVID‐19 outcomes in people with NMDs.
Chiara Pizzamiglio, Robert D. S. Pitceathly, Michael P. Lunn, Stefen Brady, Fabiola De Marchi, Lucia Galan, Jeannine M. Heckmann, Alejandro Horga, Maria J. Molnar, Acary S. B. Oliveira, Wladimir B. V. R. Pinto, Guido Primiano, Ernestina Santos, Benedikt Schoser, Serenella Servidei, Paulo V. Sgobbi Souza, Vishnu Venugopalan, Michael G. Hanna, Mazen M. Dimachkie, Pedro M. Machado, for the Neuromuscular Diseases and COVID‐19 Study Group, Albert Lim, Amar Elsaddig, Ana Juanatey, Ana Romeiro, Andreas Themistocleous, Annamaria Kiss‐Csenki, Antonio Guerrero Sola, Anuja Patil, Ashish Duggal, Carolyn Gabriel, Charles Marshall, Christopher Record, Claire Allen, David Bearden, DeviPriya Rathna Sabapathi, Dileep R, Domizia Vecchio, Edward Newman, Edwin Eshun, Eng C. Foo, Enrico Bugiardini, Georgina Burke, Gita Ramdharry, Gràinne S. Gorman, Guru Kumar, Harri Sivasathiaseelan, Igor Braga Farias, Izelle Smuts, James Holt, Jan T. Groothuis, Jane Pritchard, Jasmine Wall, Josep Gamez, K. J. S. Shakthi, Kate Wannop, Kathryn Brennan, Lillian Saavedra, Lisa Clayton, Liz Househam, Mariola Skorupinska, Matilde Laura, Matteo Ciocca, Maya Zosmer, Megha Dhamne, Michelangelo Mancuso, Mirian Janssen, Olimpia Musumeci, Olivia Price, Patrick F. Chinnery, Philip Ambrose, Puja R. Mehta, Rhys H. Thomas, Rita Horvath, Robert McFarland, Ross Nortley, Ross W. Paterson, Ruth Geraldes, Ryan Keh, Saara Neshuku, Sandhya Sasidharan, Sarath Menon R, Sharika Raga, Simon Rinaldi, Sireesha Yareeda, Soaham Desai, Sridharan Ramaratnam, Stephen Keddie, Taylor Watson‐Fargie, Teresinha Evangelista, Valeria Sansone, Victoria Nesbitt, William L. Macken, Yavuz Oktay   +93 more
wiley   +1 more source

Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy

Cells, 2018
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles.
Lubos Danisovic, Martina Culenova, Maria Csobonyeiova   +2 more
doaj   +1 more source

A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Katharina Buesch, Sarah Acaster   +4 more
doaj   +1 more source

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury. Despite a diverse array of genetic drivers, many NMDs share similar patterns of exercise intolerance and higher concentrations of muscle injury proteins ...
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
wiley   +1 more source

Genetic and molecular architecture of familial hypercholesterolemia

Journal of Internal Medicine, Volume 293, Issue 2, Page 144-165, February 2023., 2023
Abstract Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely underdiagnosed worldwide. It is one of the most frequently inherited diseases due to mutations, for autosomal dominant forms, in ...
Marianne Abifadel, Catherine Boileau
wiley   +1 more source

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

Pharmaceuticals, 2015
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy.
Akinori Nakamura
doaj   +1 more source

In Vivo‐Like Scaffold‐Free 3D In Vitro Models of Muscular Dystrophies: The Case for Anchored Cell Sheet Engineering in Personalized Medicine

Advanced Healthcare Materials, EarlyView.
The scaffold‐free Anchored Cell Sheet Engineering platform is used to create three‐dimensional (3D) in vitro models of skeletal muscle tissue that replicate key features of Duchenne and Myotonic dystrophies. These personalized tissue models, validated by histological, immunostaining, and proteomics analyses, accurately mimic disease phenotypes and ...
Alireza Shahin‐Shamsabadi, John Cappuccitti   +1 more
wiley   +1 more source

Polyplex Nanomicelle‐Mediated Pgc‐1α4 mRNA Delivery Via Hydrodynamic Limb Vein Injection Enhances Damage Resistance in Duchenne Muscular Dystrophy Mice

Advanced Science, EarlyView.
This study presents a novel approach for treating Duchenne muscular dystrophy using mRNA encoding PGC‐1α4. Nanomicelle‐delivered Pgc‐1α4 mRNA enhances muscle damage resistance and mitochondrial activity in dystrophic muscles. This study demonstrates the potential of mRNA therapy for neuromuscular diseases like Duchenne muscular dystrophy and highlights
Xuan Du, Hideyuki Nakanishi, Takashi Yamada, Yooksil Sin, Katsura Minegishi, Norio Motohashi, Yoshitsugu Aoki, Keiji Itaka   +7 more
wiley   +1 more source

Delivery of A Chemically Modified Noncoding RNA Domain Improves Dystrophic Myotube Function

Advanced Science, EarlyView.
CYTOR is a pro‐myogenic ncRNA in skeletal muscle. Here, chemical probing of CYTOR, coupled with functional cellular assays identifies exon 2 as an independent myogenic RNA domain. Chemical engineering of CYTOR exon 2 RNA improves pharmacologic properties, including RNA stability and cell‐autonomous immunogenicity.
Zeinabou Niasse‐Sy, Bo Zhao, Ajda Lenardič, Huyen Thuc Tran Luong, Ori Bar‐Nur, Johan Auwerx, Martin Wohlwend   +6 more
wiley   +1 more source

ALKBH3‐Mediated M1A Demethylation of METTL3 Endows Pathological Fibrosis:Interplay Between M1A and M6A RNA Methylation

Advanced Science, EarlyView.
RNA modification is crucial in fibrosis diseases, but the role of m1A modification remains elusive. This study reveals that ALKBH3, an m1A demethylase, drives skin fibrosis by reshaping m6A RNA modification and stabilizing COL1A1 and FN1 mRNAs through METTL3, uncovering a crosstalk between m1A and m6A methylation in pathological events.
Liying Tu, Shuchen Gu, Ruoqing Xu, En Yang, Xin Huang, Hsin Liang, Shenying Luo, Haizhou Li, Yixuan Zhao, Tao Zan   +9 more
wiley   +1 more source