Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
EMBO Reports|October 1, 2019
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycanJihee Kim, Beatrice Lana, Silvia Torelli, et al.
Neurology|October 31, 2014
Dystrophin quantification: Biological and translational research implicationsKaren Anthony, Virginia Arechavala-Gomeza, Laura E Taylor, et al.
Brain : a Journal of Neurology|November 22, 2011
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trialsKaren Anthony, Sebahattin Cirak, Silvia Torelli, et al.
Brain : a Journal of Neurology|September 20, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey, Emma Clement, Rachael Mein, et al.
Lancet (London, England)|July 26, 2011
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation studySebahattin Cirak, Virginia Arechavala-Gomeza, Michela Guglieri, et al.
Brain : a Journal of Neurology|January 5, 2013
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophiesSebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, et al.
Journal of Neuropathology and Experimental Neurology|September 9, 2021
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy PatientsSilvia Torelli, Domenic Scaglioni, Valentina Sardone, et al.
American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophyAnna Sarkozy, Silvia Torelli, Rachael Mein, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
Pageof 6