Mutations of DEPDC5 cause autosomal dominant focal epilepsies von Ishida, Saeko, Picard, Fabienne, Rudolf, Gabrielle, Noé, Eric, Achaz, Guillaume, Thomas, Pierre, Genton, Pierre, Mundwiller, Emeline, Wolff, Markus, Marescaux, Christian, Miles, Richard, Baulac, Michel, Hirsch, Edouard, Leguern, Eric, Baulac, Stéphanie

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CIC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas von Gleize, Vincent, Alentorn, Agusti, Connen de Kérillis, Léa, Labussière, Marianne, Nadaradjane, Aravidan A, Mundwiller, Emeline, Ottolenghi, Chris, Mangesius, Stephanie, Rahimian, Amithys, Ducray, François, Mokhtari, Karima, Villa, Chiara, Sanson, Marc

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Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia von Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, De Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni

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Mutations in KCND3 cause spinocerebellar ataxia type 22 von Lee, Yi-Chung, Durr, Alexandra, Majczenko, Karen, Huang, Yen-Hua, Liu, Yu-Chao, Lien, Cheng-Chang, Tsai, Pei-Chien, Ichikawa, Yaeko, Goto, Jun, Monin, Marie-Lorraine, Li, Jun Z., Chung, Ming-Yi, Mundwiller, Emeline, Shakkottai, Vikram, Liu, Tze-Tze, Tesson, Christelle, Lu, Yi-Chun, Brice, Alexis, Tsuji, Shoji, Burmeister, Margit, Stevanin, Giovanni, Soong, Bing-Wen

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A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia von Słabicki, Mikołaj, Theis, Mirko, Krastev, Dragomir B, Samsonov, Sergey, Mundwiller, Emeline, Junqueira, Magno, Paszkowski-Rogacz, Maciej, Teyra, Joan, Heninger, Anne-Kristin, Poser, Ina, Prieur, Fabienne, Truchetto, Jérémy, Confavreux, Christian, Marelli, Cécilia, Durr, Alexandra, Camdessanche, Jean Philippe, Brice, Alexis, Shevchenko, Andrej, Pisabarro, M Teresa, Stevanin, Giovanni, Buchholz, Frank

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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations von KLEBEL, Stephan, LOSSOS, Alexander, RASTETTER, Agnes, MARTIN, Elodie, BOUTEILLER, Delphine, ORLANDO, Laurent, GYAPAY, Gabor, EL-HACHIMI, Khalid H, ZIMMERMAN, Batel, GAMLIEL, Moriya, MISK, Adel, LERER, Israela, AZZEDINE, Hamid, BRICE, Alexis, DURR, Alexandra, STEVANIN, Giovanni, MUNDWILLER, Emeline, SHEFFER, Ruth, GAUSSEN, Marion, MARELLI, Cecilia, NAWARA, Magdalena, CARPENTIER, Wassila, MEYER, Vincent

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Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 von Goizet, Cyril, Boukhris, Amir, Mundwiller, Emeline, Tallaksen, Chantal, Forlani, Sylvie, Toutain, Annick, Carriere, Nathalie, Paquis, Véronique, Depienne, Christel, Durr, Alexandra, Stevanin, Giovanni, Brice, Alexis

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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations von Salih, Mustafa A, Mundwiller, Emeline, Khan, Arif O, AlDrees, Abdulmajeed, Elmalik, Salah A, Hassan, Hamdy H, Al-Owain, Mohammed, Alkhalidi, Hisham M S, Katona, Istvan, Kabiraj, Mohammad M, Chrast, Roman, Kentab, Amal Y, Alzaidan, Hamad, Rodenburg, Richard J, Bosley, Thomas M, Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid

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Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene von Puech, Bernard, MD, Lacour, Arnaud, MD, Stevanin, Giovanni, PhD, Sautiere, Bruno G., MD, Devos, David, PhD, Depienne, Christel, PhD, Denis, Elodie, BS, Mundwiller, Emeline, BS, Ferriby, Didier, MD, Vermersch, Patrick, PhD, Defoort-Dhellemmes, Sabine, MD

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A DNA methylation signature discriminates between excellent and non-response to lithium in patients with bipolar disorder type 1 von Marie-Claire, C., Lejeune, F. X., Mundwiller, E., Ulveling, D., Moszer, I., Bellivier, F., Etain, B.

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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia von Coutelier, Marie, Blesneac, Iulia, Monteil, Arnaud, Monin, Marie-Lorraine, Ando, Kunie, Mundwiller, Emeline, Brusco, Alfredo, Le Ber, Isabelle, Anheim, Mathieu, Castrioto, Anna, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Lory, Philippe, Stevanin, Giovanni

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Gene expression of circadian genes and CIART in bipolar disorder: A preliminary case-control study von Courtin, Cindie, Marie-Claire, Cynthia, Gross, Gregory, Hennion, Vincent, Mundwiller, Emeline, Guégan, Justine, Meyrel, Manon, Bellivier, Frank, Etain, Bruno

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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy von Picard, Fabienne, Makrythanasis, Periklis, Navarro, Vincent, Ishida, Saeko, de Bellescize, Julitta, Ville, Dorothée, Weckhuysen, Sarah, Fosselle, Erwin, Suls, Arvid, De Jonghe, Peter, Vasselon Raina, Maryline, Lesca, Gaetan, Depienne, Christel, An-Gourfinkel, Isabelle, Vlaicu, Mihaela, Baulac, Michel, Mundwiller, Emeline, Couarch, Philippe, Combi, Romina, Ferini-Strambi, Luigi, Gambardella, Antonio, Antonarakis, Stylianos E, Leguern, Eric, Steinlein, Ortrud, Baulac, Stéphanie

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Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia von Lossos, Alexander, Stümpfig, Claudia, Stevanin, Giovanni, Gaussen, Marion, Zimmerman, Bat-El, Mundwiller, Emeline, Asulin, Moriya, Chamma, Liat, Sheffer, Ruth, Misk, Adel, Dotan, Shlomo, Gomori, John M, Ponger, Penina, Brice, Alexis, Lerer, Israela, Meiner, Vardiella, Lill, Roland

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Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia von Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni

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GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia von Coutelier, Marie, Burglen, Lydie, Mundwiller, Emeline, Abada-Bendib, Myriam, Rodriguez, Diana, Chantot-Bastaraud, Sandra, Rougeot, Christelle, Cournelle, Marie-Anne, Milh, Mathieu, Toutain, Annick, Bacq, Delphine, Meyer, Vincent, Afenjar, Alexandra, Deleuze, Jean-François, Brice, Alexis, Héron, Delphine, Stevanin, Giovanni, Durr, Alexandra

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Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders von Lattante, Serena, Millecamps, Stéphanie, Stevanin, Giovanni, Rivaud-Péchoux, Sophie, Moigneu, Carine, Camuzat, Agnès, Da Barroca, Sandra, Mundwiller, Emeline, Couarch, Philippe, Salachas, François, Hannequin, Didier, Meininger, Vincent, Pasquier, Florence, Seilhean, Danielle, Couratier, Philippe, Danel-Brunaud, Véronique, Bonnet, Anne-Marie, Tranchant, Christine, LeGuern, Eric, Brice, Alexis, Le Ber, Isabelle, Kabashi, Edor

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Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 von Barbier, Mathieu, Bahlo, Melanie, Pennisi, Alessandra, Jacoupy, Maxime, Tankard, Rick M., Ewenczyk, Claire, Davies, Kayli C., Lino‐Coulon, Patricia, Colace, Claire, Rafehi, Haloom, Auger, Nicolas, Ansell, Brendan R. E., Stelt, Ivo, Howell, Katherine B., Coutelier, Marie, Amor, David J., Mundwiller, Emeline, Guillot‐Noël, Lena, Storey, Elsdon, Gardner, R. J. McKinlay, Wallis, Mathew J., Brusco, Alfredo, Corti, Olga, Rötig, Agnès, Leventer, Richard J., Brice, Alexis, Delatycki, Martin B., Stevanin, Giovanni, Lockhart, Paul J., Durr, Alexandra

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Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia von Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acosta Lebrigio, Rafael F., Gaussen, Marion, Noreau, Anne, Speziani, Fiorella, Dionne-Laporte, Alexandre, Deleuze, Jean-François, Dion, Patrick, Coutinho, Paula, Rouleau, Guy A., Zuchner, Stephan, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric

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TP53 and p53 statuses and their clinical impact in diffuse low grade gliomas von Gillet, Emeline, Alentorn, Agusti, Doukouré, Brahima, Mundwiller, Emeline, van Thuij, Hinke, Reijneveld, Jaap C., Medina, José Alfonso Meza, Liou, Amélie, Marie, Yannick, Mokhtari, Karima, Hoang-Xuan, Khê, Sanson, Marc, Delattre, Jean-Yves, Idbaih, Ahmed

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