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BMC Medical Genetics|April 30, 2010
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosisAlessandra Ferlini, Matteo Bovolenta, Marcella Neri, et al.Nucleic Acid Therapeutics|July 18, 2020
Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of <i>DUX4</i>Maria Sofia Falzarano, Monica Argenziano, Anne Chalotte Marsollier, et al.Proceedings of the National Academy of Sciences of the United States of America|March 26, 2008
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathiesLuciano Merlini, Alessia Angelin, Tania Tiepolo, et al.Journal of Proteome Research|September 12, 2014
Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathiesSara De Palma, Daniele Capitanio, Michele Vasso, et al.Annals of Neurology|November 8, 2014
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yieldArunkanth Ankala, Cristina da Silva, Francesca Gualandi, et al.Plos One|September 18, 2020
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey studyBorut Peterlin, Francesca Gualandi, Ales Maver, et al.BMC Medical Genetics|March 30, 2012
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathyMarcella Neri, Emanuele Valli, Giovanna Alfano, et al.The Neurologist|August 31, 2012
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiencyGaetano Vattemi, Marcella Neri, Matteo Marini, et al.Neurogenetics|August 27, 2013
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3Ginevra Zanni, Chiara Scotton, Chiara Passarelli, et al.Cerebellum (London, England)|November 29, 2022
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian PatientsFabiana Colucci, Marcella Neri, Fernanda Fortunato, et al.Pageof 19