Results 131 to 140 of about 1,979 (203)

Untangling Complexity in Dysferlinopathy With MRI Modeling of Disease Trajectory. [PDF]

Neurol Genet
Morrow JM.
europepmc   +1 more source

Antisense oligonucleotide-mediated exon 27 skipping restores dysferlin function in dysferlinopathy patient-derived muscle cells [PDF]

Mol Ther Nucleic Acids
Suzuki N.
europepmc   +2 more sources

Dysferlin Protein-Protein Interaction Pathways in the Organ of Corti and Spiral Ganglion Intersect with Alzheimer's Protein Pathways. [PDF]

Int J Mol Sci
Drescher MJ, Drescher DG, Khan KM, Hatfield JS, Hemani D.   +4 more
europepmc   +1 more source

In Vitro Correction of Point Mutations in the <i>DYSF</i> Gene Using Prime Editing. [PDF]

Int J Mol Sci
Bouchard C, Rousseau J, Lamothe G, Dubost M, Bastrenta L, Ramezani S, Tremblay JP.   +6 more
europepmc   +1 more source

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family. [PDF]

Int J Genomics
Baghshomali S, Jebelli A, Kazemzadeh M, Jalalypour F, Yazdchi M, Mokhtarzadeh AA, Emrahi L.   +6 more
europepmc   +1 more source

Cardiac and pulmonary findings in dysferlinopathy

Introduction/Aims: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.
Moore, Ursula||, Fernandez-Torron, Roberto||, Jacobs, Marni, Gordish-Dressman, Heather||, Diaz-Manera, Jordi||, James, Meredith K||, Mayhew, Anna G.||, Harris, Elizabeth, Guglieri, Michela||, Rufibach, Laura E.||, Feng, Jia, Blamire, Andrew||, Carlier, Pierre G.||, Spuler, Simone||, Day, John W||, Jones, Kristi J., Bharucha-Goebel, Diana||, Salort-Campana, Emmanuelle||, Pestronk, Alan||, Walter, Maggie C.||, Paradas, Carmen||, Stojkovic, Tanya||, Mori-Yoshimura, Madoka||, Bravver, Elena, Pegoraro, Elena||, Lowes, Linda Pax, Mendell, Jerery R., Bushby, Kate||, Bourke, John, Straub, Volker||   +29 more
openaire   +1 more source

Physiotherapy and Rehabilitation in Dysferlinopathy [PDF]

International Journal of Musculoskeletal Disorders, 2018
openaire   +1 more source

Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression. [PDF]

CNS Neurosci Ther
Wang D, Liu XY, He QF, Zheng FZ, Chen L, Zheng Y, Zeng MH, Lin YH, Lin X, Chen HZ, Lin MT, Wang N, Wang ZQ, Lin F.   +13 more
europepmc   +1 more source

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore)
Ji Z, Zheng H, Yang Y, Li D, Li Z, Guo X.   +5 more
europepmc   +1 more source

Treatabolome for finely targeting muscle pathology in LGMD. [PDF]

Acta Myol
Angelini C.
europepmc   +1 more source