Results 121 to 130 of about 1,438 (185)

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

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

Generation of a novel Dysferlin microdeletion knock-in mouse model mimicking muscular dystrophy-like pathology. [PDF]

Sci Rep
Chen YL, Lin WN, Pan PY, Ku WC, Wang P, Yip PK, Tsui KC, Wu YN, Lin YH.   +8 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

Assessment of disease progression in dysferlinopathy : A 1-year cohort study

Altres ajuts: The estimated USObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain ...
Blamire, A.M., Walter, M.C., Alfano, L., Rocha, C.T., Day, J.W., Mori-Yoshimura, M., Eagle, M., Rufibach, L.E., Fernandez-Torron, R., Decostre, V., Mayhew, A.G., Berry, K.M., Siener, C., Sakamoto, C., Sanjak, M., Yajima, H., Grieben, U., Takeda, S., Prügel, J., Bello, L., Jacobs, Marni, Hilsden, H., Sparks, S., Paradas, C., Lofra, R.M., Florence, J.M., Praxedes, N.S.A., Mittal, P., Feng, J., Vandevelde, B., Pedrosa-Hernández, I., Duong, T., Stojkovic, T., Lochmüller, H., Bushby, K., Ashida, A., James, M.K., Spuler, S., Bettinson, K., Salort-Campana, E., Harms, M., Pegoraro, E., Krause, S., Schreiber-Katz, O., Mendez, J.B., Lowes, L.P., Ollivier, G., Thiele, S., Hogrel, J.Y., Semplicini, C., Gee, R., Maron, E., Holsten, S., Tateishi, T., Montiel-Morillo, E., Mendell, J.R., Canal, A., Cnaan, A., Jones, K.J., Dewolf, B., Bravver, E., Carlier, P.G., Bharucha-Goebel, D.X., Rose, K., Diaz-Manera, Jordi., Pestronk, A., Shierbecker, J., Moore, U., Hutchence, M., Universitat Autònoma de Barcelona, Straub, V.   +70 more
core  

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

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2. [PDF]

J Neurol
Bolano-Diaz CF, Verdu-Diaz J, Hao D, James MK, Rufibach L, Blamire A, Reyngoudt H, Carlier PG, Gordish-Dressman H, Hilsden H, Spuler S, Day J, Jones KJ, Bharucha-Goebel D, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Mendell J, Jain COS Consortium, Straub V, Diaz-Manera J.   +24 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