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Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|October 6, 2007
McArdle disease: molecular genetic updateA L Andreu, G Nogales-Gadea, D Cassandrini, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|October 6, 2007
Neuromuscular forms of glycogen branching enzyme deficiencyC Bruno, D Cassandrini, S Assereto, et al.Journal of Neurology, Neurosurgery, and Psychiatry|January 27, 2004
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth diseaseL Santoro, F Manganelli, E Di Maria, et al.Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-Facciale|October 27, 2006
Lipoid proteinosis: case report and review of the literatureS Di Giandomenico, R Masi, D Cassandrini, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 21, 2004
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effectE Di Maria, R Gulli, P Balestra, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 24, 2010
McArdle disease: a clinical reviewR Quinlivan, J Buckley, M James, et al.Neurobiology of Disease|August 9, 2001
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoterM Musso, P Balestra, E Bellone, et al.Clinical Genetics|September 15, 2011
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiencyM Fanin, A Anichini, D Cassandrini, et al.Neuropediatrics|July 4, 2007
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosisN Cannelli, N Nardocci, D Cassandrini, et al.Neurology|January 14, 2004
Clinical and molecular findings in patients with giant axonal neuropathy (GAN)C Bruno, E Bertini, A Federico, et al.Pageof 2