ZnT8 Is a Major CD8(+) T Cell–Recognized Autoantigen in Pediatric Type 1 Diabetes

por Énée, Émmanuelle, Kratzer, Roland, Arnoux, Jean-Baptiste, Barilleau, Emilie, Hamel, Yamina, Marchi, Christophe, Beltrand, Jacques, Michaud, Bénédicte, Chatenoud, Lucienne, Robert, Jean-Jacques, van Endert, Peter
Publicado 2012

Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations

por Pelosi, Michele, Testet, Eric, Le Lay, Soazig, Dugail, Isabelle, Tang, Xiaoyun, Mabilleau, Guillaume, Hamel, Yamina, Madrange, Marine, Blanc, Thomas, Odent, Thierry, McMullen, Todd P. W., Alfò, Marco, Brindley, David N., de Lonlay, Pascale
Publicado 2017

Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis

por Hamel, Yamina, Mauvais, François-Xavier, Madrange, Marine, Renard, Perrine, Lebreton, Corinne, Nemazanyy, Ivan, Pellé, Olivier, Goudin, Nicolas, Tang, Xiaoyun, Rodero, Mathieu P., Tuchmann-Durand, Caroline, Nusbaum, Patrick, Brindley, David N., van Endert, Peter, de Lonlay, Pascale
Publicado 2021

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 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 2014