Results 181 to 190 of about 28,350 (246)

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

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

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

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

Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies. [PDF]

Genes (Basel)
Dicorato MM, De Sario G, Carella MC, Guaricci AI, Ciccone MM, Forleo C, D'Amato G, Faienza MF.   +7 more
europepmc   +1 more source

Assessment of DNA Variations From Two In Vivo Skeletal Muscle Disorder Mouse Models Using Complementary Square-Wave Voltammetry and LC-MS/MS Analysis. [PDF]

Chembiochem
LaFave ER, Sink GB, Bhandari S, Rayfield EL, Readyoff AT, Spangenburg EE, Hvastkovs EG.   +6 more
europepmc   +1 more source

A new dystrophin-deficient rat model mirroring exon skipping in patients with DMD exon 45 deletions. [PDF]

Dis Model Mech
Wang T, Daoud C, Dubois A, Corre G, Bellec J, Bovolenta M, Philidet L, Dorval A, Bourg N, Roudaut C, Albini S, Warthi G, Jaber A, Richard I.   +13 more
europepmc   +1 more source

Cognitive deficits linked to intrinsic timescales and gray matter volume abnormalities in children with Duchenne muscular dystrophy. [PDF]

J Neurodev Disord
Niu X, Hu Q, Zhang X, Zhang S, Xu K, Xu R, Song Y, Fu H, Zhou Z, Ren Y, Li C, Xu T, Han S, Zhang Y, Xu H, Cai X, Cheng B, Guo Y.   +17 more
europepmc   +1 more source