Pharmacological management of prolonged seizures in Dravet syndrome including intravenous phenytoin von Abi Tayeh, Rana, Dozières‐Puyravel, Blandine, Arnaud, Lionel, Titomanlio, Luigi, Dauger, Stéphane, Höhn, Sophie, Le Guern, Eric, Auvin, Stéphane

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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation von de Sainte Agathe, Jean-Madeleine, Filser, Mathilde, Isidor, Bertrand, Besnard, Thomas, Gueguen, Paul, Perrin, Aurélien, Van Goethem, Charles, Verebi, Camille, Masingue, Marion, Rendu, John, Cossée, Mireille, Bergougnoux, Anne, Frobert, Laurent, Buratti, Julien, Lejeune, Élodie, Le Guern, Éric, Pasquier, Florence, Clot, Fabienne, Kalatzis, Vasiliki, Roux, Anne-Françoise, Cogné, Benjamin, Baux, David

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Characterization of Recessive Parkinson Disease in a Large Multicenter Study von Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohamed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean‐Christophe, Brice, Alexis, Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Ben Romdhan, Sawssan, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Le Toullec, Benjamin, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Ben Djebara, Mouna, Gouider, Riadh, Tazir, Meriem, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andy, Corvol, Jean‐Christophe, Brice, Alexis

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Novel VCP mutations expand the mutational spectrum of frontotemporal dementia von Saracino, Dario, Clot, Fabienne, Camuzat, Agnès, Anquetil, Vincent, Hannequin, Didier, Guyant-Maréchal, Lucie, Didic, Mira, Guillot-Noël, Léna, Rinaldi, Daisy, Latouche, Morwena, Forlani, Sylvie, Ghassab, Yassaman, Coppola, Cinzia, Di Iorio, Giuseppe, David, Isabelle, Le Guern, Eric, Brice, Alexis, Le Ber, Isabelle

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Focal epilepsy due to de novo SCN1A mutation von Laur, Domitille, Dozières‐Puyravel, Blandine, Iléa, Adina, Nava, Caroline, Delanoë, Catherine, Nasser, Hala, Le Guern, Eric, Auvin, Stéphane

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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations von Méreaux, Jean-Loup, Firanescu, Cristina, Coarelli, Giulia, Kvarnung, Malin, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara, Parodi, Livia, Coutelier, Marie, Papin, Mélanie, Svenningsson, Per, Azulay, Jean-Philippe, Alonso, Isabel, Nilsson, Daniel, Brice, Alexis, Le Guern, Eric, Press, Rayomand, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril, Durr, Alexandra, Paucar, Martin, Stevanin, Giovanni

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Efficient myelin repair in the macaque spinal cord by autologous grafts of Schwann cells von Bachelin, Corinne, Lachapelle, François, Girard, Christelle, Moissonnier, Pierre, Serguera-Lagache, Che, Mallet, Jacques, Fontaine, Denys, Chojnowski, Alexandre, Le Guern, Eric, Nait-Oumesmar, Brahim, Baron-Van Evercooren, Anne

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Loss of function of ADNP by an intragenic inversion von Georget, Mathieu, Lejeune, Elodie, Buratti, Julien, Servant, Euphrasie, le Guern, Eric, Heron, Delphine, Keren, Boris, de Sainte Agathe, Jean-Madeleine

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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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Characterization of recessive Parkinson's disease in a large multicenter study von Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis

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Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication von Nazha Birouk, Gouider, Riadh, Eric Le Guern, Gugenheim, Michel

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GABAA Receptor γ2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition von Eugène, Emmanuel, Depienne, Christel, Baulac, Stéphanie, Baulac, Michel, Fritschy, Jean Marc, Le Guern, Eric, Miles, Richard, Poncer, Jean Christophe

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Conséquences diagnostiques de l’étude clinico-génétique de plus de 2000 patients avec suspicion de dégénérescence lobaire frontotemporale von Cogan, Guillaume, Leber, Isabelle, Saracino, Dario, Lamari, Foudil, Julie, Bogoin, Le Guern, Eric, Clot, Fabienne

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Use of epilepsy gene panels for early diagnosis of epilepsy in children 2-4 years of age: expert considerations on current and future practices in Europe von Izzo, Emanuela, Barroso, Eva, Bailey, Mitch, Griesbach, Stefan, Lerche, Holger, Jenkins, Lucy, Le Guern, Eric, Mei, Davide, Mikhaylova, Svetlana, Santorelli, Filippo, Miller, Nicole

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GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition von Eugène, Emmanuel, Depienne, Christel, Baulac, Stéphanie, Baulac, Michel, Fritschy, Jean Marc, Le Guern, Eric, Miles, Richard, Poncer, Jean Christophe

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Intérêt d’un panel de gènes de paraparésies spastiques héréditaires von Méreaux, Jean-Loup, Banneau, Guillaume, Papin, Mélanie, Brice, Alexis, Durr, Alexandra, Le Guern, Eric, Stevanin, Giovanni

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Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication: Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases von BIROUK, N, GOUIDER, R, LE GUERN, E, GUGENHEIM, M, TARDIEU, S, MAISONOBE, T, LE FORESTIER, N, AGID, Y, BRICE, A, BOUCHE, P

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GABA A Receptor γ2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition von Eugène, Emmanuel, Depienne, Christel, Baulac, Stéphanie, Baulac, Michel, Fritschy, Jean Marc, Le Guern, Eric, Miles, Richard, Poncer, Jean Christophe

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GABA sub(A) Receptor gamma 2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition von Eugene, Emmanuel, Depienne, Christel, Baulac, Stephanie, Baulac, Michel, Fritschy, Jean Marc, Le Guern, Eric, Miles, Richard, Poncer, Jean Christophe

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A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter : evidence for the existence of a fourth locus von STEVANIN, G, LE GUERN, E, POTHIN, Y, LAGROUA, I, HAGUENAU, M, RANCUREL, G, WEISSENBACH, J, AGID, Y, BRICE, A, RAVISE, N, CHNEIWEISS, H, DÜRR, A, CANCEL, G, VIGNAL, A, BOCH, A.-L, RUBERG, M, PENET, C

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