Progressive Ataxia and Palatal Tremor: Think about POLG Mutations

by Mongin, Marie, Delorme, Cécile, Lenglet, Timothée, Jardel, Claude, Vignal, Catherine, Roze, Emmanuel
Published 2016

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

by Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Published 2016

Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis

by Chartier, Aymeric, Klein, Pierre, Pierson, Stéphanie, Barbezier, Nicolas, Gidaro, Teresa, Casas, François, Carberry, Steven, Dowling, Paul, Maynadier, Laurie, Bellec, Maëlle, Oloko, Martine, Jardel, Claude, Moritz, Bodo, Dickson, George, Mouly, Vincent, Ohlendieck, Kay, Butler-Browne, Gillian, Trollet, Capucine, Simonelig, Martine
Published 2015

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

by 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
Published 2016

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

by Neeve, Vivienne C. M., Samuels, David C., Bindoff, Laurence A., van den Bosch, Bianca, Van Goethem, Gert, Smeets, Hubert, Lombès, Anne, Jardel, Claude, Hirano, Michio, DiMauro, Salvatore, De Vries, Maaike, Smeitink, Jan, Smits, Bart W., de Coo, Ireneus F. M., Saft, Carsten, Klopstock, Thomas, Keiling, Bianca-Cortina, Czermin, Birgit, Abicht, Angela, Lochmüller, Hanns, Hudson, Gavin, Gorman, Grainne G., Turnbull, Doug M., Taylor, Robert W., Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita
Published 2012

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

by Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique
Published 2013