Comparative analysis of the perception of nuclear risk in two populations (expert/non-expert) in France by Perez, Sandra, Auwer, Christophe Den, Pourcher, Thierry, Russo, Sandra, Drouot, Cyril, Beccia, Maria Rosa, Creff, Gaelle, Fiorelli, Franck, Leriche, Audrey, Castagnola, Fréderic, Steichen, Pascale, Carle, Geoges, Michel, Hervé, Glaichenhaus, Nicolas, Josse, Denis, Pottier, Nicolas, Provitolo, Damienne

Get full text

Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid beta peptides: their use to examine the cell biology of presenilins and the immunohisto... by Barelli, H, Lebeau, A, Vizzavona, J, Delaere, P, Chevallier, N, Drouot, C, Marambaud, P, Ancolio, K, Buxbaum, J D, Khorkova, O, Heroux, J, Sahasrabudhe, S, Martinez, J, Warter, J M, Mohr, M, Checler, F

Get full text

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients by Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., Delaunoy, J. P., Fritsch, M., Arning, L., Synofzik, M., Schöls, L., Sequeiros, J., Goizet, C., Marelli, C., Le Ber, I., Koht, J., Gazulla, J., De Bleecker, J., Mukhtar, M., Drouot, N., Ali-Pacha, L., Benhassine, T., Chbicheb, M., M’Zahem, A., Hamri, A., Chabrol, B., Pouget, J., Murphy, R., Watanabe, M., Coutinho, P., Tazir, M., Durr, A., Brice, A., Tranchant, C., Koenig, M.

Get full text

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia by Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, Jérémie, Valenti-Hirsch, Maria Paola, Minotti, Lorella, Dozieres-Puyravel, Blandine, Bär, Séverine, Scholly, Julia, Schaefer, Elise, Nava, Caroline, Wirth, Thomas, Nasser, Hala, de Salins, Marie, de Saint Martin, Anne, Warde, Marie Thérèse Abi, Kahane, Philippe, Hirsch, Edouard, Anheim, Mathieu, Friant, Sylvie, Chelly, Jamel, Mignot, Cyril, Rudolf, Gabrielle

Get full text

Increased diagnostic yield in complex dystonia through exome sequencing by Wirth, Thomas, Tranchant, Christine, Drouot, Nathalie, Keren, Boris, Mignot, Cyril, Cif, Laura, Lefaucheur, Romain, Lion-François, Laurence, Méneret, Aurélie, Gras, Domitille, Roze, Emmanuel, Laroche, Cécile, Burbaud, Pierre, Bannier, Stéphanie, Lagha-Boukbiza, Ouhaid, Spitz, Marie-Aude, Laugel, Vincent, Bereau, Matthieu, Ollivier, Emmanuelle, Nitschke, Patrick, Doummar, Diane, Rudolf, Gabrielle, Anheim, Mathieu, Chelly, Jamel

Get full text

Highlighting the Dystonic Phenotype Related to GNAO1 by Wirth, Thomas, Garone, Giacomo, Kurian, Manju A., Piton, Amélie, Millan, Francisca, Telegrafi, Aida, Drouot, Nathalie, Rudolf, Gabrielle, Chelly, Jamel, Marks, Warren, Burglen, Lydie, Demailly, Diane, Coubes, Phillipe, Castro‐Jimenez, Mayte, Joriot, Sylvie, Ghoumid, Jamal, Belin, Jérémie, Faucheux, Jean‐Marc, Blumkin, Lubov, Hull, Mariam, Parnes, Mered, Ravelli, Claudia, Poulen, Gaëtan, Calmels, Nadège, Nemeth, Andrea H., Smith, Martin, Barnicoat, Angela, Ewenczyk, Claire, Méneret, Aurélie, Roze, Emmanuel, Keren, Boris, Mignot, Cyril, Beroud, Christophe, Acosta, Fernando, Nowak, Catherine, Wilson, William G., Steel, Dora, Capuano, Alessandro, Vidailhet, Marie, Lin, Jean‐Pierre, Tranchant, Christine, Cif, Laura, Doummar, Diane, Anheim, Mathieu

Get full text

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation by MALLARET, Martial, SYNOFZIK, Matthis, TRANCHANT, Christine, MIGNOT, Cyril, MANDEL, Jean-Louis, BEDFORD, Mark, BAUER, Peter, SALIH, Mustafa A, SCHÜLE, Rebecca, SCHÖLS, Ludger, ALDAZ, C. Marcelo, KOENIG, Michel, JAEHO LEE, SAGUM, Cari A, MAHAJNAH, Muhammad, SHARKIA, Rajech, DROUOT, Nathalie, RENAUD, Mathilde, KLEIN, Fabrice A. C, ANHEIM, Mathieu

Get full text

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia by Vermeer, Sascha, Hoischen, Alexander, Meijer, Rowdy P.P., Gilissen, Christian, Neveling, Kornelia, Wieskamp, Nienke, de Brouwer, Arjan, Koenig, Michel, Anheim, Mathieu, Assoum, Mirna, Drouot, Nathalie, Todorovic, Slobodanka, Milic-Rasic, Vedrana, Lochmüller, Hanns, Stevanin, Giovanni, Goizet, Cyril, David, Albert, Durr, Alexandra, Brice, Alexis, Kremer, Berry, van de Warrenburg, Bart P.C., Schijvenaars, Mascha M.V.A.P., Heister, Angelien, Kwint, Michael, Arts, Peer, van der Wijst, Jenny, Veltman, Joris, Kamsteeg, Erik-Jan, Scheffer, Hans, Knoers, Nine

Get full text

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression by Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, Nourisson, Elsa, Chantot-Bastaraud, Sandra, Lebre, Anne-Sophie, Rio, Marlène, Chaix, Yves, Bieth, Eric, Roze, Emmanuel, Bonnet, Isabelle, Canaple, Sandrine, Rastel, Coralie, Brice, Alexis, Rötig, Agnès, Desguerre, Isabelle, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu

Get full text

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases by Mallaret, Martial, Renaud, Mathilde, Redin, Claire, Drouot, Nathalie, Muller, Jean, Severac, Francois, Mandel, Jean Louis, Hamza, Wahiba, Benhassine, Traki, Ali-Pacha, Lamia, Tazir, Meriem, Durr, Alexandra, Monin, Marie-Lorraine, Mignot, Cyril, Charles, Perrine, Van Maldergem, Lionel, Chamard, Ludivine, Thauvin-Robinet, Christel, Laugel, Vincent, Burglen, Lydie, Calvas, Patrick, Fleury, Marie-Céline, Tranchant, Christine, Anheim, Mathieu, Koenig, Michel

Get full text

Haut taux de diagnostic identifié par séquençage de l’exome dans les pathologies neurologiques associant déficience intellectuelle et dystonie by Wirth, Thomas, Tranchant, Christine, Drouot, Nathalie, Keren, Boris, Mignot, Cyril, Doummar, Diane, Rudolf, Gabrielle, Anheim, Mathieu, Chelly, Jamel

Get full text