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Neuropediatrics|October 12, 2005
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutationE Bertini, M A Donati, P Broda, et al.Journal of the Neurological Sciences|February 19, 2019
Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variabilityD Tolomeo, A Rubegni, M Severino, et al.Neurology|October 20, 2010
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studiesD Cassandrini, R Biancheri, A Tessa, et al.Neurology|September 29, 2004
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)C Bruno, O P van Diggelen, D Cassandrini, et al.Neurology|September 8, 2010
Congenital muscular dystrophies with cognitive impairment. A population studyS Messina, C Bruno, I Moroni, et al.Neurology|March 21, 2009
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyE Mercuri, S Messina, C Bruno, et al.Orphanet Journal of Rare Diseases|July 9, 2016
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patientsC Fiorillo, G Astrea, M Savarese, et al.Pageof 2