Robert D. S. Pitceathly

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

Victoria Nesbitt, Robert D. S. Pitceathly, Douglass M. Turnbull et al. · Journal of Neurology Neurosurgery & Psychiatry · 2013 · 229 citations

Life Sciences, Genetics, Molecular Genetics +17

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

Robert D. S. Pitceathly, Shamima Rahman, Yehani Wedatilake et al. · Cell Reports · 2013 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic dysfunction of <i>MT-ATP6</i> causes axonal Charcot-Marie-Tooth disease

Robert D. S. Pitceathly, Sinéad M. Murphy, Ellen Cottenie et al. · Neurology · 2012 · 111 citations · Full text

Life Sciences, Genetics, Neurology +17

Consensus-based statements for the management of mitochondrial stroke-like episodes

Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman et al. · Wellcome Open Research · 2019 · 95 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Two independent respiratory chains adapt OXPHOS performance to glycolytic switch

Erika Fernández‐Vizarra, Sandra López-Calcerrada, Ana Sierra‐Magro et al. · Cell Metabolism · 2022 · 92 citations

Life Sciences, Biochemistry, Physiology +16