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Cell Reports|June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological diseaseRobert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 8, 2013
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophyArianna Tucci, Yo-Tsen Liu, Elisabeth Preza, et al.JIMD Reports|July 25, 2015
Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type IIIDèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.Molecular and Cellular Biology|October 29, 2004
Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in miceL Miguel Martins, Alastair Morrison, Kristina Klupsch, et al.Scientific Reports|January 30, 2019
Plasma coenzyme Q10 status is impaired in selected genetic conditionsRaquel Montero, Delia Yubero, Maria C Salgado, et al.Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.Plos One|June 19, 2008
PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neuronsAlison Wood-Kaczmar, Sonia Gandhi, Zhi Yao, et al.Human Molecular Genetics|May 1, 2019
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathyEnrico Bugiardini, Alice L Mitchell, Ilaria Dalla Rosa, et al.Plos Genetics|June 30, 2010
A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathyHouman Ashrafian, Louise Docherty, Vincenzo Leo, et al.JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.Pageof 5