Genetic and biochemical findings in Chinese children with Leigh syndrome

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

Denis Leigh · Journal of Neurology Neurosurgery & Psychiatry · 1951 · 788 citations · Full text

Medicine, Neurology, Pediatrics +8

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S. Rahman, Rozanne B. Blok, H H Dahl et al. · Annals of Neurology · 1996 · 780 citations

Life Sciences, Genetics, Molecular Genetics +17

De novo mutations in the mitochondrial <i>ND3</i> gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Robert McFarland, Denise M. Kirby, Kerry J. Fowler et al. · Annals of Neurology · 2003 · 181 citations

Life Sciences, Genetics, Molecular Genetics +17

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

Marie Chol · Journal of Medical Genetics · 2003 · 154 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +17

Recurrent <i>de novo</i> mitochondrial DNA mutations in respiratory chain deficiency

Sophie Lebon · Journal of Medical Genetics · 2003 · 126 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16