Not logged in Share Save
A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects Lebon, Sophie; Bruneel, Arnaud; Drunat, Severine; Albert, Alexandra; Csaba, Zsolt; Elmaleh, Monique; Ntorkou, Alexandra; Tenier, Yann; Fenaille, Francois; Gressens, Pierre; Passemard, Sandrine; Boespflug-Tanguy, Odile; Dorboz, Imen; El Ghouzzi, Vincent Share Save
Share Save
Genome sequencing in persistently unsolved white matter disorders Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole, I; Abbink, Truus E. M.; Kirwin, Susan M.; Tan, Christina M.; Hobson, Grace M.; Guo, Long; Ikegawa, Shiro; Pizzino, Amy; Schmidt, Johanna L.; Bernard, Genevieve; Schiffmann, Raphael; van der Knaap, Marjo S.; Simons, Cas; Taft, Ryan J.; Vanderver, Adeline Share Save
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13 Russell, Bianca E.; Whaley, Kaitlin G.; Bove, Kevin E.; Labilloy, Anatalia; Lombardo, Rachel C.; Hopkin, Robert J.; Leslie, Nancy D.; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Habes, Dalila; Jardel, Claude; Labarthe, Francois; Levy, Jonathan; Lombes, Anne; Mehler-Jacob, Claire; Melki, Judith; Menvielle, Laura; Munnich, Arnold; Mussini, Charlotte; Pichard, Samia; Rio, Marlene; Rotig, Agnes; Sissaoui, Samira; Slama, Abdelhamid; Miethke, Alexander G.; Schiff, Manuel Share Save
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy Pant, Devesh C.; Dorboz, Imen; Schluter, Agatha; Fourcade, Stephane; Launay, Nathalie; Joya, Javier; Aguilera-Albesa, Sergio; Eugenia Yoldi, Maria; Casasnovas, Carlos; Willis, Mary J.; Ruiz, Montserrat; Ville, Dorothee; Lesca, Gaetan; Siquier-Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Caries; Rubbini, Davide; Terriente, Javier; James, Kiely N.; Musaev, Damir; Zaki, Maha S.; Patterson, Marc C.; Lanpher, Brendan C.; Klee, Eric W.; Pinto E Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M.; Cohen, Julie S.; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamreza; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G.; Pujades, Cristina; Fatemi, Ali; Boespflug-Tanguy, Odile; Pujol, Aurora Share Save
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation Dewulf, Joseph P.; Wiame, Elsa; Dorboz, Imen; Elmaleh-Berges, Monique; Imbard, Apolline; Dumitriu, Dana; Rak, Malgorzata; Bourillon, Agnes; Helaers, Raphael; Malla, Alisha; Renaldo, Florence; Boespflug-Tanguy, Odile; Vincent, Marie-Francoise; Benoist, Jean-Francois; Wevers, Ron A.; Schlessinger, Avner; Van Schaftingen, Emile; Nassogne, Marie-Cecile; Schiff, Manuel Share Save
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation Dorboz, Imen; Dumay-Odelot, Helene; Boussaid, Karima; Bouyacoub, Yosra; Barreau, Pauline; Samaan, Simon; Jmel, Haifa; Eymard-Pierre, Eleonore; Cances, Claude; Bar, Celine; Poulat, Anne-Lise; Rousselle, Christophe; Renaldo, Florence; Elmaleh-Berges, Monique; Teichmann, Martin; Boespflug-Tanguy, Odile Share Save
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases Codjia, P.; Ayrignac, X.; Mochel, F.; Mouzat, K.; Carra-Dalliere, C.; Castelnovo, G.; Ellie, E.; Etcharry-Bouyx, F.; Verny, C.; Belliard, S.; Hannequin, D.; Marelli, C.; Nadjar, Y.; Le Ber, I.; Dorboz, I.; Samaan, S.; Boespflug-Tanguy, O.; Lumbroso, S.; Labauge, P. Share Save
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature Ardissone, Anna; Tonduti, Davide; Legati, Andrea; Lamantea, Eleonora; Barone, Rita; Dorboz, Imen; Boespflug-Tanguy, Odile; Nebbia, Gabriella; Maggioni, Marco; Garavaglia, Barbara; Moroni, Isabella; Farina, Laura; Pichiecchio, Anna; Orcesi, Simona; Chiapparini, Luisa; Ghezzi, Daniele Share Save
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients Lebigot, E.; Gaignard, P.; Dorboz, I.; Slama, A.; Rio, M.; de Lonlay, P.; Heron, B.; Sabourdy, F.; Boespflug-Tanguy, O.; Cardoso, A.; Habarou, F.; Ottolenghi, C.; Therond, P.; Bouton, C.; Golinelli-Cohen, M. P.; Boutron, A. Share Save
Share Save
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy Dorboz, Imen; Aiello, Chiara; Simons, Cas; Stone, Robert Thompson; Niceta, Marcello; Elmaleh, Monique; Abuawad, Mohammad; Doummar, Diane; Bruselles, Alessandro; Wolf, Nicole I.; Travaglini, Lorena; Boespflug-Tanguy, Odile; Tartaglia, Marco; Vanderver, Adeline; Rodriguez, Diana; Bertini, Enrico Share Save
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability Anikster, Yair; Haack, Tobias B.; Vilboux, Thierry; Pode-Shakked, Ben; Thony, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L.; Paulo, Joao A.; Berutti, Riccardo; Benoist, Jean-Francois; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; Ziv-Strasser, Limor; Malicdan, May Christine V.; Gemperle-Britschgi, Corinne; Cremer, Kirsten; Engels, Hartmut; Meili, David; Keller, Irene; Bruggmann, Remy; Strom, Tim M.; Meitinger, Thomas; Mullikin, James C.; Schwartz, Gerard; Ben-Zeev, Bruria; Gahl, William A.; Harper, J. Wade; Blau, Nenad; Hoffmann, Georg F.; Prokisch, Holger; Opladen, Thomas; Schiff, Manuel Share Save
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection Ulrick, Nicole; Goldstein, Amy; Simons, Cas; Taft, Ryan J.; Heiman, Guy; Pizzino, Amy; Bloom, Miriam; Vogt, Julie; Pysden, Karen; Diodato, Dania; Martinelli, Diego; Monavari, Ahmad; Buhas, Daniela; van Karnebeek, Clara D. M.; Dorboz, Imen; Boespflug-Tanguy, Odile; Rodriguez, Diana; Tetreault, Martine; Majewski, Jacek; Bernard, Genevieve; Ng, Yi Shiau; McFarland, Robert; Vanderver, Adeline Share Save
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease Guarani, Virginia; Jardel, Claude; Chretien, Dominique; Lombes, Anne; Benit, Paule; Labasse, Clemence; Lacene, Emmanuelle; Bourillon, Agnes; Imbard, Appolline; Benoist, Jean Francois; Dorboz, Imen; Gilleron, Mylene; Goetzman, Eric S.; Gaignard, Pauline; Slama, Abdelhamid; Elmaleh-Berges, Monique; Romero, Norma B.; Rustin, Pierre; de Baulny, Helene Ogier; Paulo, Joao A.; Harper, J. Wade; Schiff, Manuel Share Save
Share Save
New spastic paraplegia phenotype associated to mutation of NFU1 Tonduti, Davide; Dorboz, Imen; Imbard, Apolline; Slama, Abdelhamid; Boutron, Audrey; Pichard, Samia; Elmaleh, Monique; Vallee, Louis; Benoist, Jean Francois; Ogier, Helene; Boespflug-Tanguy, Odile Share Save
Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients Ayrignac, Xavier; Carra-Dalliere, Clarisse; de Champfleur, Nicolas Menjot; Denier, Christian; Aubourg, Patrick; Bellesme, Celine; Castelnovo, Giovanni; Pelletier, Jean; Audoin, Bertrand; Kaphan, Elsa; de Seze, Jerome; Collongues, Nicolas; Blanc, Frederic; Chanson, Jean-Baptiste; Magnin, Eloi; Berger, Eric; Vukusic, Sandra; Durand-Dubief, Francoise; Camdessanche, Jean-Philippe; Cohen, Mickael; Lebrun-Frenay, Christine; Brassat, David; Clanet, Michel; Vermersch, Patrick; Zephir, Helene; Outteryck, Olivier; Wiertlewski, Sandrine; Laplaud, David-Axel; Ouallet, Jean-Christophe; Brochet, Bruno; Goizet, Cyril; Debouverie, Marc; Pittion, Sophie; Edan, Gilles; Deburghgraeve, Veronique; Le Page, Emmanuelle; Verny, Christophe; Amati-Bonneau, Patrizia; Bonneau, Dominique; Hannequin, Didier; Guyant-Marechal, Lucie; Derache, Nathalie; Defer, Gilles Louis; Moreau, Thibault; Giroud, Maurice; Guennoc, Anne Marie; Clavelou, Pierre; Taithe, Frederique; Mathis, Stephane; Neau, Jean-Philippe; Magy, Laurent; Devoize, Jean Louis; Bataillard, Marc; Masliah-Planchon, Julien; Dorboz, Imen; Tournier-Lasserve, Elisabeth; Levade, Thierry; Tanguy, Odile Boespflug; Labauge, Pierre Share Save
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1 Dorboz, Imen; Coutelier, Marie; Bertrand, Anne T.; Caberg, Jean-Hubert; Elmaleh-Berges, Monique; Laine, Jeanne; Stevanin, Giovanni; Bonne, Gisele; Boespflug-Tanguy, Odile; Servais, Laurent Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
