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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.Neurology|February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 familiesG Lesca, E Eymard-Pierre, F M Santorelli, et al.Human Mutation|March 26, 2003
Mutation analysis in 16 patients with mtDNA depletionR Carrozzo, B Bornstein, S Lucioli, et al.Neurology|December 14, 2005
Familial basilar migraine associated with a new mutation in the ATP1A2 geneA Ambrosini, M D'Onofrio, G S Grieco, et al.Neurology|March 14, 2001
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndromeR Carrozzo, A Tessa, M E Vázquez-Memije, et al.Journal of Neurology|November 5, 2015
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-SaguenayChiara Criscuolo, C Procaccini, M C Meschini, et al.Neurology|August 27, 2003
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cystsC Patrono, G Di Giacinto, E Eymard-Pierre, et al.Journal of Medical Genetics|January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutationsH A L Tuppen, F Fattori, R Carrozzo, et al.Neuromuscular Disorders : NMD|August 30, 2001
Respiratory chain defects in hereditary spastic paraplegiasF Piemonte, C Casali, R Carrozzo, et al.Neurology|January 14, 2004
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay typeG S Grieco, A Malandrini, G Comanducci, et al.Pageof 13