Results 111 to 120 of about 1,730 (187)

Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy. [PDF]

Genes Dis
Bouchard C, Despax L, Rousseau J, Tremblay JP.   +3 more
europepmc   +1 more source

Physiotherapy and Rehabilitation in Dysferlinopathy [PDF]

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

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent. [PDF]

Ann Indian Acad Neurol
Shah SA, Vishnu VY, Sebastian LJD, Garg A.   +3 more
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

Boldo Restores Vascularization and Reduces Skeletal Muscle Inflammation in Symptomatic Mice with Dysferlinopathy. [PDF]

Int J Mol Sci
Vásquez W, Troncoso F, Lira A, Escudero C, Sáez JC.   +4 more
europepmc   +1 more source

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

Neurol Genet
Morrow JM.
europepmc   +1 more source

Excess muscle plasma membrane leak disrupts ECM content and shifts macrophage-mediated muscle repair. [PDF]

JCI Insight
Lee G, Fitt AJ, Long AM, Vaught LA, DeBiasse D, Keeble AR, Kwon JM, Page PG, Daher MT, Hadhazy M, Willis AB, Ceja Galindo D, McCabe M, Lantz C, Hansen KC, Crosbie RH, Thorp EB, Demonbreun AR, McNally EM.   +18 more
europepmc   +1 more source

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

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis. [PDF]

Neurol Genet
Bolano-Diaz CF, Reyngoudt H, Wilson IJ, James MK, Smith FE, Caldas de Almeida Araujo E, Gordish-Dressman H, Hilsden H, Rufibach LE, Wallace D, Ward L, Stramare R, Rampado A, Smith M, Boisserie JM, Le Louer J, Foster S, Peduto A, Sato N, Tamaru T, Sawyer AM, Day JW, Jones KJ, Walter MC, Stojkovic T, Mori-Yoshimura M, Mendell JR, Pegoraro E, Straub V, Blamire AM, Carlier P, Diaz-Manera J, Jain COS Consortium.   +32 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