Browsing by Author "Taylor, Robert"
Zhu, Tongtong; El-Ella, Haitham; Reid, Benjamin; Holmes, Mark; Taylor, Robert; Kappers, Menno Johannes; Oliver, Rachel Angharad (Journal of Crystal Growth, 2012-01-01)
Lewis-Smith, David; Kamer, Kimberli J; Griffin, Helen; Childs, Anne-Marie; Psyden, Karen; Titov, Denis; Duff, JenniferPyle, AngelaTaylor, RobertYu-Wai-Man, PatrickRamesh, VenkateswaranHorvath, RitaMootha, Vamsi KChinnery, Patrick Francis et al. (Wolters Kluwer, 2016-03-03)Objective: To define the mechanism responsible for the fatigue, lethargy and weakness in two cousins who had a normal muscle biopsy. Methods: Exome sequencing, long-range PCR and Sanger sequencing to identify the pathogenic ...
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease Boczonadi, Veronika; King, Martin; Smith, Anthony Colin; Olahova, Monika; Bansagi, Boglarka; Roos, Andreas; Eyassu, FilmonBorchers, ChristophRamesh, VenkateswaranLochmüller, HannsPolvikoski, TuomoWhittaker, RogerPyle, AngelaGriffin, AngelaTaylor, RobertChinnery, Patrick FrancisRobinson, Alan JonathanKunji, Edmund RichardHorvath, Rita et al.Purpose: Members of the mitochondrial carrier family (SLC25) transport metabolites, nucleotides, co-factors and inorganic ions across the mitochondrial inner membrane. Methods: We identified a pathogenic variant in a novel ...