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Human Mutation|September 18, 2009
Exon skipping-mediated dystrophin reading frame restoration for small mutationsPietro Spitali, Paola Rimessi, Marina Fabris, et al.
The Journal of Pediatrics|May 8, 2012
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlationMarika Pane, Maria Elena Lombardo, Paolo Alfieri, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 22, 2010
Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse modelHans Heemskerk, Christa de Winter, Petra van Kuik, et al.
Electrophoresis|May 16, 2007
Genetic microheterogeneity of human transthyretin detected by IEFKlaus Altland, Merrill D Benson, Catherine E Costello, et al.
JAMA Neurology|November 13, 2013
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skippingKaren Anthony, Virginia Arechavala-Gomeza, Valeria Ricotti, et al.
Heart (British Cardiac Society)|July 3, 2017
A current approach to heart failure in Duchenne muscular dystrophyDomenico D'Amario, Antonio Amodeo, Rachele Adorisio, et al.
International Journal of Molecular Sciences|July 2, 2021
Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian PatientsCristina Balla, Elena Conte, Rita Selvatici, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|October 26, 2006
Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?Claudio Rapezzi, Enrica Perugini, Fabrizio Salvi, et al.
Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms|September 5, 2017
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expressionSamuele Gherardi, Matteo Bovolenta, Chiara Passarelli, et al.
Neuromuscular Disorders : NMD|June 19, 2017
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domainsElizabeth Harris, Umar Burki, Chiara Marini-Bettolo, et al.
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