Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Por Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Publicado no Mol Genet Metab Rep (2016)

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Por Mollet, Julie, Delahodde, Agnès, Serre, Valérie, Chretien, Dominique, Schlemmer, Dimitri, Lombes, Anne, Boddaert, Nathalie, Desguerre, Isabelle, de Lonlay, Pascale, Ogier de Baulny, Hélène, Munnich, Arnold, Rötig, Agnès
Publicado em 2008

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants

Por Bouchereau, Juliette, Barrot, Sandrine Vuillaumier, Dupré, Thierry, Moore, Stuart E. H., Cardas, Ruxandra, Capri, Yline, Gaignard, Pauline, Slama, Abdelhamid, Delanoë, Catherine, Ogier de Baulny, Hélène, Seta, Nathalie, Schiff, Manuel, Servais, Laurent
Publicado no JIMD Rep (2016)

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Por Sabourdy, Frédérique, Mourey, Lionel, Le Trionnaire, Emmanuelle, Bednarek, Nathalie, Caillaud, Catherine, Chaix, Yves, Delrue, Marie-Ange, Dusser, Anne, Froissart, Roseline, Garnotel, Roselyne, Guffon, Nathalie, Megarbane, André, Ogier de Baulny, Hélène, Pédespan, Jean-Michel, Pichard, Samia, Valayannopoulos, Vassili, Verloes, Alain, Levade, Thierry
Publicado no Orphanet J Rare Dis (2015)

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

Por Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Lombès, Anne, Bénit, Paule, Labasse, Clémence, Lacène, Emmanuelle, Bourillon, Agnès, Imbard, Apolline, Benoist, Jean-François, Dorboz, Imen, Gilleron, Mylène, Goetzman, Eric S, Gaignard, Pauline, Slama, Abdelhamid, Elmaleh-Bergès, Monique, Romero, Norma B, Rustin, Pierre, Ogier de Baulny, Hélène, Paulo, Joao A, Harper, J Wade, Schiff, Manuel
Publicado no eLife (2016)

Mutations in CYC1, Encoding Cytochrome c(1) Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

Por Gaignard, Pauline, Menezes, Minal, Schiff, Manuel, Bayot, Aurélien, Rak, Malgorzata, Ogier de Baulny, Hélène, Su, Chen-Hsien, Gilleron, Mylene, Lombes, Anne, Abida, Heni, Tzagoloff, Alexander, Riley, Lisa, Cooper, Sandra T., Mina, Kym, Sivadorai, Padma, Davis, Mark R., Allcock, Richard J.N., Kresoje, Nina, Laing, Nigel G., Thorburn, David R., Slama, Abdelhamid, Christodoulou, John, Rustin, Pierre
Publicado em 2013