Steven Hardy

mt <scp>DNA</scp> 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 · 277 citations · Full text

Ethnic distribution of slow acetylator mutations in the polymorphic N-acetyltransferase (NAT2) gene

Henry J. Lin, Chun-Ya Han, Bruce K. Lin et al. · Pharmacogenetics · 1994 · 166 citations

Genetics, Genetic Epidemiology, Acetylation Polymorphism +20

<i>LRPPRC</i>mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Monika Oláhová, Steven Hardy, Julie Hall et al. · Brain · 2015 · 105 citations · Full text

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Uwe Ahting, Johannes A. Mayr, Arnaud Vanlander et al. · Frontiers in Genetics · 2015 · 95 citations · Full text

Metabolic Disorder, Iron Metabolism, Genetics +22

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Gerald Pfeffer, Rita Barresi, Ian Wilson et al. · Journal of Neurology Neurosurgery & Psychiatry · 2013 · 88 citations · Full text