Results 131 to 140 of about 21,009 (196)

Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]

Int J Mol Sci
Campuzano-Donoso M, Reytor-González C, Toral-Noristz M, González Y, Simancas-Racines D.   +4 more
europepmc   +1 more source

Proteomics-based evaluation of AAV dystrophin gene therapy outcomes in mdx skeletal muscle. [PDF]

JCI Insight
Johnson EE, Reyes TR, Chamberlain JS, Ervasti JM, Tasfaout H.   +4 more
europepmc   +1 more source

Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy. [PDF]

Appl Clin Genet
Yuan Q, Liu C, Lu Y, Han X, Wang Z, Yuan Y, Xie Z.   +6 more
europepmc   +1 more source

Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior. [PDF]

Commun Biol
Karuppasamy M, English KG, Conner JR, Rorrer SN, Lopez MA, Crossman DK, Paul JR, Gutierrez-Monreal MA, Gamble KL, Esser KA, Widrick JJ, Kunkel LM, Alexander MS.   +12 more
europepmc   +1 more source

Improving angiogenesis ameliorates the efficacy of ASO-based exon skipping for the treatment of Duchenne muscular dystrophy. [PDF]

Mol Ther Nucleic Acids
Blitek M, Gastaldi C, Doisy M, Le Coz O, David M, Phongsavanh X, Ben Aicha S, Garcia L, Rotini A, Pagès G, Goyenvalle A.   +10 more
europepmc   +1 more source

Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases. [PDF]

Front Cell Dev Biol
Wein N, Barthélémy F.
europepmc   +1 more source

The Promise and Pitfalls of AAV-Mediated Gene Therapy for Duchenne Muscular Dystrophy. [PDF]

Curr Issues Mol Biol
Kurshakova EV, Levchenko OA, Smirnikhina SA, Lavrov AV.   +3 more
europepmc   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant. [PDF]

Ann Neurol
Naruse H, Mitsui J, Kubota A, Okubo S, Mitsuchi S, Sumi K, Tanifuji S, Komaki S, Kitamura A, Maeda M, Yashita D, Sudo A, Matsukawa T, Hamada M, Satake W, Tsuji S, Toda T.   +16 more
europepmc   +1 more source

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment. [PDF]

Genes (Basel)
Barbarii T, Tudorache RA, Craiu D, Neagu E, Brinduse LA, Burloiu CM, Iliescu CM, Budisteanu M, Minciu I, Barca DG, Sandu C, Tarta-Arsene O, Pomeran C, Motoescu C, Dica A, Anghelescu C, Surlica D, Toma AI, Butoianu N.   +18 more
europepmc   +1 more source