A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium von Meunier, Isabelle, Lenaers, Guy, Bocquet, Béatrice, Baudoin, Corinne, Piro-Megy, Camille, Cubizolle, Aurélie, Quilès, Mélanie, Jean-Charles, Albert, Cohen, Salomon Yves, Merle, Harold, Gaudric, Alain, Labesse, Gilles, Manes, Gaël, Péquignot, Marie, Cazevieille, Chantal, Dhaenens, Claire-Marie, Fichard, Agnès, Ronkina, Natalia, Arthur, Simon J, Gaestel, Matthias, Hamel, Christian P

Volltext

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy von Piro-Megy, Camille, Sarzi, Emmanuelle, Tarres-Sole, Aleix, Pequignot, Marie, Hensen, Fenna, Quiles, Melanie, Manes, Gael, Chakraborty, Arka, Senechal, Audrey, Bocquet, Beatrice, Cazevieille, Chantal, Roubertie, Agathe, Muller, Agnes, Charif, Majida, Goudenege, David, Lenaers, Guy, Wilhelm, Helmut, Kellner, Ulrich, Weisschuh, Nicole, Wissinger, Bernd, Zanlonghi, Xavier, Hamel, Christian, Spelbrink, Johannes N., Sola, Maria, Delettre, Cecile

Volltext

Inherited mitochondrial dysfunction triggered by OPA1 mutation impacts the sensory innervation fibre identity, functionality and regenerative potential in the cornea von Meneux, Léna, Feret, Nadège, Pernot, Sarah, Girard, Mélissa, Sarkis, Solange, Caballero Megido, Alicia, Quiles, Melanie, Müller, Agnès, Fichter, Laura, Vialaret, Jerome, Hirtz, Christophe, Delettre, Cecile, Michon, Frederic

Volltext

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy von Sarzi, Emmanuelle, Seveno, Marie, Angebault, Claire, Milea, Dan, Rönnbäck, Cecilia, Quilès, Melanie, Adrian, Mathias, Grenier, Joanna, Caignard, Angélique, Lacroux, Annie, Lavergne, Christian, Reynier, Pascal, Larsen, Michael, Hamel, Christian P, Lenaers, Guy, Müller, Agnès

Volltext

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy von Sarzi, Emmanuelle, Seveno, Marie, Angebault, Claire, Milea, Dan, Rönnbäck, Cecilia, Quilès, Melanie, Adrian, Mathias, Grenier, Joanna, Caignard, Angélique, Lacroux, Annie, Lavergne, Christian, Reynier, Pascal, Larsen, Michael, Hamel, Christian P, Delettre, Cécile, Lenaers, Guy, Müller, Agnès

Volltext

ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome von Angebault Claire, Fauconnier Jérémy, Patergnani Simone, Rieusset, Jennifer, Danese, Alberto, Affortit, Corentin A, Jagodzinska Jolanta, Mégy Camille, Quiles Mélanie, Cazevieille Chantal, Korchagina Julia, Bonnet-Wersinger Delphine, Milea, Dan, Hamel, Christian, Pinton Paolo, Thiry, Marc, Lacampagne Alain, Delprat Benjamin, Delettre Cécile

Volltext

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model von Sarzi, Emmanuelle, Seveno, Marie, Piro-Mégy, Camille, Elzière, Lucie, Quilès, Mélanie, Péquignot, Marie, Müller, Agnès, Hamel, Christian P., Lenaers, Guy, Delettre, Cécile

Volltext

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission von Gerber, Sylvie, Charif, Majida, Chevrollier, Arnaud, Chaumette, Tanguy, Angebault, Claire, Kane, Mariame Selma, Paris, Aurélien, Alban, Jennifer, Quiles, Mélanie, Delettre, Cécile, Bonneau, Dominique, Procaccio, Vincent, Amati-Bonneau, Patrizia, Reynier, Pascal, Leruez, Stéphanie, Calmon, Raphael, Boddaert, Nathalie, Funalot, Benoit, Rio, Marlène, Bouccara, Didier, Meunier, Isabelle, Sesaki, Hiromi, Kaplan, Josseline, Hamel, Christian P, Rozet, Jean-Michel, Lenaers, Guy

Volltext

ER-mitochondria cross-talk is regulated by the Ca(2+) sensor NCS1 and is impaired in Wolfram syndrome von Angebault, Claire, Fauconnier, Jeremy, Patergnani, Simone, Rieusset, Jennifer, Danese, Alberto, Affortit, Corentin A., Jagodzinska, Jolanta, Megy, Camille, Quiles, Melanie, Cazevieille, Chantal, Korchagina, Julia, Bonnet-Wersinger, Delphine, Milea, Dan, Hamel, Christian, Pinton, Paolo, Thiry, Marc, Lacampagne, Alain, Delprat, Benjamin, Delettre, Cecile

Volltext

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies von Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro-Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Markus, Lorenz, Birgit, Carelli, Valerio, Chinnery, Patrick F., Yu-Wai-Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean-Michel, Bomont, Pascale, Hamel, Christian P., Lenaers, Guy

Volltext

Reply: The expanding neurological phenotype of DNM1L-related disorders von Gerber, Sylvie, Charif, Majida, Chevrollier, Arnaud, Chaumette, Tanguy, Angebault, Claire, Kane, Selma, Paris, Aurélien, Alban, Jennifer, Quiles, Mélanie, Delettre, Cécile, Bonneau, Dominique, Procaccio, Vincent, Amati-Bonneau, Patrizia, Reynier, Pascal, Leruez, Stéphanie, Calmon, Raphael, Boddaert, Nathalie, Funalot, Benoit, Rio, Marlène, Bouccara, Didier, Meunier, Isabelle, Sesaki, Hiromi, Kaplan, Josseline, Hamel, Christian P, Rozet, Jean-Michel, Lenaers, Guy

Volltext

ER-mitochondria cross-talk is regulated by the Ca 2+ sensor NCS1 and is impaired in Wolfram syndrome von Angebault, Claire, Fauconnier, Jérémy, Patergnani, Simone, Rieusset, Jennifer, Danese, Alberto, Affortit, Corentin A, Jagodzinska, Jolanta, Mégy, Camille, Quiles, Mélanie, Cazevieille, Chantal, Korchagina, Julia, Bonnet-Wersinger, Delphine, Milea, Dan, Hamel, Christian, Pinton, Paolo, Thiry, Marc, Lacampagne, Alain, Delprat, Benjamin, Delettre, Cécile

Volltext

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies von Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro-Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Markus, Lorenz, Birgit, Carelli, Valerio, Chinnery, Patrick F., Yu-Wai-Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean-Michel, Bomont, Pascale, Hamel, Christian P., Lenaers, Guy

Volltext

SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium von Olivier, Guillaume, Brabet, Philippe, Pirot, Nelly, Broyon, Morgane, Guillou, Laurent, Cazevieille, Chantal, Sar, Chamroeun, Quiles, Melanie, Sarzi, Emmanuelle, Pequignot, Marie, Andreo, Ervann, Roubertie, Agathe, Meunier, Isabelle, Muller, Agnès, Kalatzis, Vasiliki, Manes, Gaël

Volltext

SPACR Encoded by IIMPG1/I Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium von Olivier, Guillaume, Brabet, Philippe, Pirot, Nelly, Broyon, Morgane, Guillou, Laurent, Cazevieille, Chantal, Sar, Chamroeun, Quiles, Melanie, Sarzi, Emmanuelle, Pequignot, Marie, Andreo, Ervann, Roube, Meunier, Isabelle, Muller, Agnès, Kalatzis, Vasiliki, Manes, Gaël

Volltext

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia von Marelli, Cecilia, Hamel, Christian, Quiles, Melanie, Carlander, Bertrand, Larrieu, Lise, Delettre, Cecile, Sarzi, Emmanuelle, Chretien, Dominique, Rustin, Pierre, Koenig, Michel, Guissart, Claire

Volltext

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies von Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro-Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Markus, Lorenz, Birgit, Carelli, Valerio, Chinnery, Patrick F., Yu-Wai-Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean-Michel, Bomont, Pascale, Hamel, Christian P., Lenaers, Guy

Volltext

An FGFR3/MYC positive feedback loop provides new opportunities for targeted therapies in bladder cancers von Mahe, Mélanie, Dufour, Florent, Neyret‐Kahn, Hélène, Moreno‐Vega, Aura, Beraud, Claire, Shi, Mingjun, Hamaidi, Imene, Sanchez‐Quiles, Virginia, Krucker, Clementine, Dorland‐Galliot, Marion, Chapeaublanc, Elodie, Nicolle, Remy, Lang, Hervé, Pouponnot, Celio, Massfelder, Thierry, Radvanyi, François, Bernard‐Pierrot, Isabelle

Volltext

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders von Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Matos Ruiz, Paola M., England, Eleina M., Pais, Lynn, Groopman, Emily, Russell, Kathryn A., Di Gioia, Silvio Alessandro, Lee, Arthur S., Shaaban, Sherin, Bekele, Sarah, Toffoloni, Melissa, Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Lee Dahm, Thomas, David, Karen L., De Berardinis, Teresa, Demer, Joseph L., Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Gerth-Kahlert, Christina, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Holder, Christopher, Iannaccone, Alessandro, Isenberg, Sherwin J., Kahana, Alon, Kazlas, Melanie, Kerr, Natalie C., Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Mackey, David A., Mantagos, Iason S., Marti, Candice, Menezes, Manoj P., Mikail, Claudia N., Miller, Kathryn Bisceglia, Miyana, Kaori, Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pavone, Piero, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Thomas, Ioan Talfryn, VanderVeen, Deborah K., Vincent, Andrea L., Wabbels, Bettina, Wong, Agnes M.F., Wu, Carolyn, Yeung, Alison, Young, Terri L., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., Robson, Caroline D., Engle, Elizabeth C.

Volltext

An FGFR 3/ MYC positive feedback loop provides new opportunities for targeted therapies in bladder cancers von Mahe, Mélanie, Dufour, Florent, Neyret‐Kahn, Hélène, Moreno‐Vega, Aura, Beraud, Claire, Shi, Mingjun, Hamaidi, Imene, Sanchez‐Quiles, Virginia, Krucker, Clementine, Dorland‐Galliot, Marion, Chapeaublanc, Elodie, Nicolle, Remy, Lang, Hervé, Pouponnot, Celio, Massfelder, Thierry, Radvanyi, François, Bernard‐Pierrot, Isabelle

Volltext