Martine Mayençon

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

Philippe Latour, Christel Thauvin‐Robinet, Chantal Baudelet-Méry et al. · The American Journal of Human Genetics · 2010 · 232 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

Rapid detection of Pneumocystis carinii in bronchoalveolar lavage specimens from human immunodeficiency virus-infected patients: use of a simple DNA extraction procedure and nested PCR

M. Rabodonirina, Didier Raffenot, Laurent Cotte et al. · Journal of Clinical Microbiology · 1997 · 69 citations · Full text

Veterinary Medicine, Infectious Diseases, Microbiology +17

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

Andoni Echaniz‐Laguna, Daniele Ghezzi, Maïté Chassagne et al. · Neurology · 2013 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

Bénédicte Mousson de Camaret, Jan‐Willem Taanman, Sylvie Padet et al. · Biochemical Journal · 2007 · 51 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

A novel variation in the Twinkle linker region causing late-onset dementia

Andoni Echaniz‐Laguna, Jean‐Baptiste Chanson, J.M. Wilhelm et al. · Neurogenetics · 2009 · 22 citations

Medicine, Genetics, Neurology +13