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Acta Neuropathologica|May 8, 2003
Clinical, morphological and immunological evaluation of six patients with dysferlin deficiencyA Prelle, M Sciacco, L Tancredi, et al.Neuromuscular Disorders : NMD|November 28, 2012
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseasesM Mancuso, C Angelini, E Bertini, et al.Neuromuscular Disorders : NMD|January 2, 2014
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's diseaseA Sagnelli, M Savoiardo, C Marchesi, et al.Journal of Inherited Metabolic Disease|April 10, 2009
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 geneC Lamperti, S Salani, S Lucchiari, 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.Experimental Cell Research|June 14, 2002
A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouseS Corti, S Strazzer, R Del Bo, 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.European Journal of Neurology|November 27, 2019
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophyV Galimberti, R Tironi, A Lerario, et al.Neurology|October 22, 1998
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndromeA Papadimitriou, G P Comi, G M Hadjigeorgiou, et al.Neurology|October 24, 2008
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunctionR Del Bo, M Moggio, M Rango, et al.Pageof 10