SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations von Millecamps, Stéphanie, Salachas, François, Cazeneuve, Cécile, Gordon, Paul, Bricka, Bernard, Camuzat, Agnès, Guillot-Noël, Léna, Russaouen, Odile, Bruneteau, Gaëlle, Pradat, Pierre-François, Le Forestier, Nadine, Vandenberghe, Nadia, Danel-Brunaud, Véronique, Guy, Nathalie, Thauvin-Robinet, Christel, Lacomblez, Lucette, Couratier, Philippe, Hannequin, Didier, Seilhean, Danielle, Le Ber, Isabelle, Corcia, Philippe, Camu, William, Brice, Alexis, Rouleau, Guy, LeGuern, Eric, Meininger, Vincent

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Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients von Depienne, C, Trouillard, O, Saint-Martin, C, Gourfinkel-An, I, Bouteiller, D, Carpentier, W, Keren, B, Abert, B, Gautier, A, Baulac, S, Arzimanoglou, A, Cazeneuve, C, Nabbout, R, LeGuern, E

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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome von Depienne, Christel, Trouillard, Oriane, Gourfinkel-An, Isabelle, Saint-Martin, Cécile, Bouteiller, Delphine, Graber, Denis, Barthez-Carpentier, Marie-Anne, Gautier, Agnès, Villeneuve, Nathalie, Dravet, Charlotte, Livet, Marie-Odile, Rivier-Ringenbach, Clothilde, Adam, Claude, Dupont, Sophie, Baulac, Stéphanie, Héron, Delphine, Nabbout, Rima, LeGuern, Eric

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Familial cortical myoclonic tremor with epilepsy: The third locus (FCMTE3) maps to 5p von DEPIENNE, C, MAGNIN, E, RUMBACH, L, BOUTEILLER, D, STEVANIN, G, SAINT-MARTIN, C, VIDAILHET, M, APARTIS, E, HIRSCH, E, LEGUERN, E, LABAUGE, P

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Elicited repetitive daily blindness : A new phenotype associated with hemiplegic migraine and SCN1A mutations von VAHEDI, K, DEPIENNE, C, BOUSSER, M.-G, LE FORT, D, RIANT, F, CHAINE, P, TROUILLARD, O, GAUDRIC, A, MORRIS, M. A, LEGUERN, E, TOURNIER-LASSERVE, E

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GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy von STRIANO, P, WEBER, Y. G, POLVI, A, ROBBIANO, A, SERRATOSA, J. M, GUERRINI, R, NÜRNBERG, P, SANDER, T, ZARA, F, LERCHE, H, MARINI, C, TOLIAT, M. R, SCHUBERT, J, LEU, C, CHAIMANA, R, BAULAC, S, GUERRERO, R, LEGUERN, E, LEHESJOKI, A.-E

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Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated w... von Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E.

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease von Cuesta, Ana, Pedrola, Laia, Sevilla, Teresa, García-Planells, Javier, Chumillas, María José, Mayordomo, Fernando, LeGuern, Eric, Marín, Ignacio, Vílchez, Juan J., Palau, Francesc

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Autism, language delay and mental retardation in a patient with 7q11 duplication von Depienne, C, Heron, D, Betancur, C, Benyahia, B, Trouillard, O, Bouteiller, D, Verloes, A, LeGuern, E, Leboyer, M, Brice, A

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The involvement of the trans-generational effect in the high incidence of the hydatidiform mole in Africa von Coullin, P, Diatta, A.L, Boufettal, H, Feingold, J, Leguern, E, Candelier, J.J

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Late-onset metachromatic leukodystrophy : Genotype strongly influences phenotype von RAUSCHKA, H, COLSCH, B, KRIVIT, W, MOSER, H, MOSER, A, GIESELMANN, V, ZALC, B, COX, T, REUNER, U, TYLKI-SZYMANSKA, A, ABOUL-ENEIN, F, LEGUERN, E, BAUMANN, N, BERNHEIMER, H, BERGER, J, WEVERS, R, SCHMIDBAUER, M, KRAMMER, M, TURPIN, J.-C, LEFEVRE, M, OLIVIER, C, TARDIEU, S

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A Comprehensive Endocrine Description of Kennedy’s Disease Revealing Androgen Insensitivity Linked to CAG Repeat Length von Dejager, S, Bry-Gauillard, H, Bruckert, E, Eymard, B, Salachas, F, LeGuern, E, Tardieu, S, Chadarevian, R, Giral, P, Turpin, G

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Motor neuron disease of very long disease duration or Charcot–Marie–Tooth disease? A novel phenotype related to the SOD1 p.E22G variant von Querin, G., Corcia, P., Lenglet, T., Stojkovic, T., Leguern, E., Cazeneuve, C., Pradat, P.-F.

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Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient von Hernandez Lain, Aurelio, Millecamps, Stéphanie, Dubourg, Odile, Salachas, François, Bruneteau, Gaëlle, Lacomblez, Lucette, LeGuern, Eric, Seilhean, Danielle, Duyckaerts, Charles, Meininger, Vincent, Mallet, Jacques, Pradat, Pierre-François

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Levetiracetam in progressive myoclonic epilepsy: An exploratory study in 9 patients von CREST, C, DUPONT, S, LEGUERN, E, ADAM, C, BAULAC, M

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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations von AZZEDINE, H, RAVISE, N, HAMADOUCHE, T, BOUHOUCHE, A, GUILBOT, A, STENDEL, C, RUBERG, M, BRICE, A, BIROUK, N, DUBOURG, O, TAZIR, M, LEGUERN, E, VERNY, C, GABRËELS-FESTEN, A, LAMMENS, M, GRID, D, VALLAT, J. M, DUROSIER, G, SENDEREK, J, NOUIOUA, S

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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy von HANNIBAL, M. C, RUZZO, E. K, BEDFORD, H. M, WORRALL, B. B, LOVITT, S, APPEL, S. H, ANDERMANN, E, BIRD, T. D, CHANCE, P. F, MILLER, L. R, BETZ, B, BUCHAN, J. G, KNUTZEN, D. M, BARNETT, K, LANDSVERK, M. L, BRICE, A, LEGUERN, E

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Phenotypic variability in autosomal recessive axonal Charcot–Marie–Tooth disease due to the R298C mutation in lamin A/C von Tazir, M., Azzedine, H., Assami, S., Sindou, P., Nouioua, S., Zemmouri, R., Hamadouche, T., Chaouch, M., Feingold, J., Vallat, J. M., Leguern, E., Grid, D.

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Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality von Collongues, N., Depienne, C., Boehm, N., Echaniz-Laguna, A., Samama, B., Dürr, A., Stevanin, G., Leguern, E., Brice, A., Labauge, P., de Seze, J.

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New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p von NABBOUT, R, BAULAC, S, DESGUERRE, I, BAHI-BUISSON, N, CHIRON, C, RUBERG, M, DULAC, O, LEGUERN, E

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