检索结果 - Hamel, Yamina

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

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

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Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis 由 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

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

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

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Epithelial barrier dysfunction in desmoglein-1 deficiency 由 Polivka, Laura, Hadj-Rabia, Smail, Bal, Elodie, Leclerc-Mercier, Stéphanie, Madrange, Marine, Hamel, Yamina, Bonnet, Damien, Mallet, Stéphanie, Lepidi, Hubert, Ovaert, Caroline, Barbet, Patrick, Dupont, Christophe, Neven, Bénédicte, Munnich, Arnold, Godsel, Lisa M., Campeotto, Florence, Weil, Robert, Laplantine, Emmanuel, Marchetto, Sylvie, Borg, Jean-Paul, Weis, William I., Casanova, Jean-Laurent, Puel, Anne, Green, Kathleen J., Bodemer, Christine, Smahi, Asma

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy 由 Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Eisermann, Monika, Boutron, Audrey, Chrétien, Dominique, Chadefaux-Vekemans, Bernadette, Barouki, Robert, Bole-Feysot, Christine, Nitschke, Patrick, Goudin, Nicolas, Boddaert, Nathalie, Nemazanyy, Ivan, Delahodde, Agnès, Kölker, Stefan, Rodenburg, Richard J., Korenke, G. Christoph, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Rotig, Agnes, Ottolenghi, Chris, Mayr, Johannes A., de Lonlay, Pascale

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