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Frontiers in Neurology|July 15, 2021
Early Findings in Neonatal Cases of <i>RYR1</i>-Related Congenital MyopathiesEleonora Mauri, Daniela Piga, Alessandra Govoni, et al.
Annals of Neurology|February 5, 1998
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron diseaseG P Comi, A Bordoni, S Salani, et al.
Annals of Neurology|February 26, 2005
Vascular endothelial growth factor gene variability is associated with increased risk for ADRoberto Del Bo, Marina Scarlato, Serena Ghezzi, et al.
Neuromuscular Disorders : NMD|January 24, 2007
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assayAstrid Milic, Nathalie Daniele, Hanns Lochmüller, et al.
Plos One|May 3, 2014
Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shockAlessandro Protti, Francesco Fortunato, Maria L Caspani, et al.
Plos One|January 19, 2012
A functional variant in ERAP1 predisposes to multiple sclerosisFranca Rosa Guerini, Rachele Cagliani, Diego Forni, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 27, 2011
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosisR Del Bo, C Tiloca, V Pensato, et al.
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