Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Por Soreze, Yohan, Boutron, Audrey, Habarou, Florence, Barnerias, Christine, Nonnenmacher, Luc, Delpech, Hélène, Mamoune, Asmaa, Chrétien, Dominique, Hubert, Laurence, Bole-Feysot, Christine, Nitschke, Patrick, Correia, Isabelle, Sardet, Claude, Boddaert, Nathalie, Hamel, Yamina, Delahodde, Agnès, Ottolenghi, Chris, de Lonlay, Pascale
Publicado em 2013

A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia

Por Mamoune, Asmaa, Bahuau, Michel, Hamel, Yamina, Serre, Valérie, Pelosi, Michele, Habarou, Florence, Nguyen Morel, Marie-Ange, Boisson, Bertrand, Vergnaud, Sabrina, Viou, Mai Thao, Nonnenmacher, Luc, Piraud, Monique, Nusbaum, Patrick, Vamecq, Joseph, Romero, Norma, Ottolenghi, Chris, Casanova, Jean-Laurent, de Lonlay, Pascale
Publicado no PLoS Genet (2014)