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Biochemical and Biophysical Research Communications|August 9, 2011
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutationDario Ronchi, Andreina Bordoni, Alessandra Cosi, et al.Archives of Neurology|July 14, 2010
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosisVeronica Crugnola, Costanza Lamperti, Valeria Lucchini, et al.Orphanet Journal of Rare Diseases|July 3, 2016
TRNT1 deficiency: clinical, biochemical and molecular genetic featuresYehani Wedatilake, Rojeen Niazi, Elisa Fassone, et al.American Journal of Human Genetics|May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiencyAlessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.American Journal of Human Genetics|January 29, 2013
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instabilityDario Ronchi, Alessio Di Fonzo, Weiqiang Lin, et al.Neurology|May 9, 2014
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutationAlessio Di Fonzo, Dario Ronchi, Francesca Gallia, et al.Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.Pageof 2