A. Lombès

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

Patrick F. Chinnery, Douglas E. Crompton, D. Birchall et al. · Brain · 2006 · 202 citations · Full text

Life Sciences, Genetics, Neurology +17

Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

Marc Bataillard, Evanthia Chatzoglou, L. Rumbach et al. · Neurology · 2001 · 76 citations

Life Sciences, Genetics, Molecular Genetics +17

Exhaustive Scanning Approach to Screen All the Mitochondrial tRNA Genes for Mutations and Its Application to the Investigation of 35 Independent Patients with Mitochondrial Disorders

Damien Sternberg, Claude Danan, A. Lombès et al. · Human Molecular Genetics · 1998 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical approach to inherited metabolic diseases in the neonatal period: A 20‐year survey

J. M. Saudubray, H. Ogier, Jean‐Paul Bonnefont et al. · Journal of Inherited Metabolic Disease · 1989 · 63 citations

Medicine, Child Health, Pediatrics +16

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA ^Phe gene

Gábor Zsurka, Kevin G. Hampel, Isabelle Nelson et al. · Neurology · 2010 · 44 citations

Life Sciences, Genetics, Molecular Genetics +17