Gráinne S. Gorman

Prevalence of nuclear and mitochondrial <scp>DNA</scp> mutations related to adult mitochondrial disease

Gráinne S. Gorman, Andrew M. Schaefer, Yi Shiau Ng et al. · Annals of Neurology · 2015 · 943 citations · Full text

Life Sciences, Genetics, Neurology +13

Multi-system neurological disease is common in patients with OPA1 mutations

Patrick Yu‐Wai‐Man, Philip G. Griffiths, Gráinne S. Gorman et al. · Brain · 2010 · 447 citations · Full text

Medicine, Genetics, Neurology +16

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

PROGRESSIVE ENCEPHALOMYELITIS, RIGIDITY, AND MYOCLONUS: A NOVEL GLYCINE RECEPTOR ANTIBODY

Michael Hutchinson, Patrick Waters, John C. McHugh et al. · Neurology · 2008 · 356 citations · Full text

Medicine, Neurology, Neuroscience +11

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A&gt;G mitochondrial disease

John P. Grady, Sarah J. Pickett, Yi Shiau Ng et al. · EMBO Molecular Medicine · 2018 · 288 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17