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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.Journal of Medical Genetics|July 3, 2008
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathyR Mineri, M Rimoldi, A B Burlina, 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.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.Neurology|April 12, 2003
Cerebellar ataxia and coenzyme Q10 deficiencyC Lamperti, A Naini, M Hirano, et al.Journal of Medical Genetics|September 21, 2011
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseJ Uusimaa, H Jungbluth, C Fratter, et al.Journal of Inherited Metabolic Disease|April 5, 2001
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chainI Wittig, P Augstein, G K Brown, et al.Acta Neuropathologica|August 1, 1996
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathyA Malandrini, P Carrera, S Palmeri, 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.Brain : a Journal of Neurology|February 17, 2010
Multi-system neurological disease is common in patients with OPA1 mutationsP Yu-Wai-Man, P G Griffiths, G S Gorman, et al.Pageof 18