Results 231 to 240 of about 51,552 (283)

Out of Sight, Out of Mind: The Importance of the Printed Journal

Journal of the California Dental Association
Eric W. Grove
doaj   +1 more source

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

Cell Death Dis
Fernández-Simón E, Tejedera-Villafranca A, Fernández-Garabay X, Clark J, Katsikis P, Mehra P, Galloway A, Monceau A, Villalobos E, Cox D, Ramón-Azcón J, Fernández-Costa JM, Díaz-Manera J.   +12 more
europepmc   +1 more source

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

The Journal of Pathology, Volume 269, Issue 3, Page 363-380, July 2026.
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen, Qirong Mao, Stefan Nicolau, Claudio Novella Rausell, Julia van der Weerd, Jan Kueckelhaus, Rasya Gokul Nath, Jordi Diaz‐Manera, Hermien E Kan, Erik H Niks, Maaike van Putten, Annemieke Aartsma‐Rus, Kevin M Flanigan, Ahmed Mahfouz, Pietro Spitali   +14 more
wiley   +1 more source

Blood transcriptomic signatures distinguish <i>Mycobacterium avium</i> complex pulmonary disease from colonization: a multicenter cohort study. [PDF]

Emerg Microbes Infect
Lin WY, Huang HL, Hsiung CN, Huang YY, Lee MR, Cheng MH, Chong IW, Wang JY.   +7 more
europepmc   +1 more source

Diaphragm‐specific effects of L‐citrulline in mdx mice highlight its potential as adjuvant of standard therapy in Duchenne muscular dystrophy

British Journal of Pharmacology, Volume 183, Issue 13, Page 3866-3884, July 2026.
Abstract Background and Purpose The absence of the protein dystrophin in Duchenne muscular dystrophy (DMD) leads to progressive muscle weakness, failing regeneration and deregulation of nitric oxide (NO) signalling. We focused on L‐citrulline, a precursor of L‐arginine, required for NO production in muscle, which is reduced in dystrophic mdx muscle ...
Lisamaura Tulimiero, Brigida Boccanegra, Paola Mantuano, Antonietta Mele, Michela De Bellis, Roberta Lenti, Francesca Sanarica, Santa Cirmi, Elena Conte, Ornella Cappellari, Amber E. Sherrard, Ardawna Green, Mira Srinivasa, Marta L. Fiorotto, Annamaria De Luca   +14 more
wiley   +1 more source

RNA Therapeutics for Duchenne Muscular Dystrophy: Exon Skipping, RNA Editing, and Translational Insights from Genome-Edited Microminipig Models. [PDF]

Int J Mol Sci
Chassin A, Ono H, Ashida Y, Imamura M, Aoki Y.   +4 more
europepmc   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

The Development of Spinal Deformity in Patients with Duchenne Muscular Dystrophy: Clinical Assessment, Surgical Considerations and Recommendations for Treatment. [PDF]

J Clin Med
Tsirikos AI, Roberts SB.
europepmc   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source