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Journal of Medical Genetics|September 14, 2012
Complex I deficiency: clinical features, biochemistry and molecular geneticsElisa Fassone, Shamima RahmanBMJ Case Reports|October 9, 2013
Treatable Leigh-like encephalopathy presenting in adolescenceElisa Fassone, Yehani Wedatilake, Catherine J DeVile, et al.Journal of Medical Genetics|September 21, 2011
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathyElisa Fassone, Jan-Willem Taanman, Iain P Hargreaves, et al.Journal of Inherited Metabolic Disease|April 16, 2016
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndromeMarta Kanabus, Elisa Fassone, Sean David Hughes, et al.Journal of the Neurological Sciences|March 13, 2009
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological studyRoberta Virgilio, Dario Ronchi, Andreina Bordoni, et al.Journal of the Neurological Sciences|February 19, 2010
The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairmentDario Ronchi, Roberta Virgilio, Andreina Bordoni, et al.Journal of Medical Genetics|March 8, 2011
Kearns-Sayre syndrome caused by defective R1/p53R2 assemblyRobert D S Pitceathly, Elisa Fassone, Jan-Willem Taanman, et al.European Journal of Human Genetics : EJHG|December 23, 2011
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairmentDario Ronchi, Monica Sciacco, Andreina Bordoni, et al.Human Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.Journal of the Neurological Sciences|June 22, 2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegiaDario Ronchi, Elisa Fassone, Andreina Bordoni, et al.Pageof 2