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Neuromuscular Disorders : NMD|November 13, 2014
A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patientsEmma L Humphrey, Erica Lacey, Lam T Le, et al.Human Molecular Genetics|April 12, 2017
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesisCan Zhou, Chen Li, Bin Zhou, et al.Human Molecular Genetics|November 2, 2013
High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell linesAmi Ketley, Catherine Z Chen, Xin Li, et al.The Journal of Biological Chemistry|April 2, 2011
Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoformsHélène Tran, Nathalie Gourrier, Camille Lemercier-Neuillet, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2019
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial ParkinsonismBeatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez, et al.Pageof 4