Klein, P., Oloko, M., Roth, F., Montel, V., Malerba, A., Jarmin, S., Gidaro, T., Popplewell, L., Perie, S., Lacau St Guily, J., de la Grange, P., Antoniou, M. N., Dickson, G., Butler-Browne, G., Bastide, B., Mouly, V., Trollet, C. :
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing
Nucleic Acids Res, 2016 ; (SP) :
Publications (1184)
Galant, D., Gaborit, B., Desgrouas, C., Abdesselam, I., Bernard, M., Levy, N., Merono, F., Coirault, C., Roll, P., Lagarde, A., Bonello-Palot, N., Bourgeois, P., Dutour, A., Badens, C. :
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy Cells, 2016 ; 5 (2) : 21
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy Cells, 2016 ; 5 (2) : 21
Behin, A., Acquaviva-Bourdain, C., Souvannanorath, S., Streichenberger, N., Attarian, S., Bassez, G., Brivet, M., Fouilhoux, A., Labarre-Villa, A., Laquerriere, A., Perard, L., Kaminsky, P., Pouget, J., Rigal, O., Vanhulle, C., Eymard, B., Vianey-Saban, C., Laforet, P. :
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease Rev Neurol (Paris), 2016 ; :
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease Rev Neurol (Paris), 2016 ; :
Bachasson, D., Moraux, A., Ollivier, G., Decostre, V., Ledoux, I., Gidaro, T., Servais, L., Behin, A., Stojkovic, T., Hebert, L. J., Puymirat, J., Eymard, B., Bassez, G., Hogrel, J. Y. :
Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1 Neuromuscul Disord, 2016 ; 26 (7) : 428-35
Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1 Neuromuscul Disord, 2016 ; 26 (7) : 428-35
Trochet, D., Prudhon, B., Jollet, A., Lorain, S., Bitoun, M. :
Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing Mol Ther Nucleic Acids, 2016 ; 5 (9) : e362
Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing Mol Ther Nucleic Acids, 2016 ; 5 (9) : e362
Bauche, S., O'Regan, S., Azuma, Y., Laffargue, F., McMacken, G., Sternberg, D., Brochier, G., Buon, C., Bouzidi, N., Topf, A., Lacene, E., Remerand, G., Beaufrere, A. M., Pebrel-Richard, C., Thevenon, J., El Chehadeh-Djebbar, S., Faivre, L., Duffourd, Y., Ricci, F., Mongini, T., Fiorillo, C., Astrea, G., Burloiu, C. M., Butoianu, N., Sandu, C., Servais, L., Bonne, G., Nelson, I., Desguerre, I., Nougues, M. C., Boeuf, B., Romero, N., Laporte, J., Boland, A., Lechner, D., Deleuze, J. F., Fontaine, B., Strochlic, L., Lochmuller, H., Eymard, B., Mayer, M., Nicole, S. :
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Am J Hum Genet, 2016 ; 99 (3) : 753-61
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Am J Hum Genet, 2016 ; 99 (3) : 753-61
Hogrel, J. Y., Wary, C., Moraux, A., Azzabou, N., Decostre, V., Ollivier, G., Canal, A., Lilien, C., Ledoux, I., Annoussamy, M., Reguiba, N., Gidaro, T., Le Moing, A. G., Cardas, R., Voit, T., Carlier, P. G., Servais, L. :
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy Neurology, 2016 ; 86 (11) : 1022-30
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy Neurology, 2016 ; 86 (11) : 1022-30
Iancu Ferfoglia, R., Guimaraes-Costa, R., Viala, K., Musset, L., Neil, J., Marin, B., Leger, J. M. :
Long-term efficacy of rituximab in IgM anti-myelin-associated glycoprotein neuropathy: RIMAG follow-up study J Peripher Nerv Syst, 2016 ; 21 (1) : 10-4
Long-term efficacy of rituximab in IgM anti-myelin-associated glycoprotein neuropathy: RIMAG follow-up study J Peripher Nerv Syst, 2016 ; 21 (1) : 10-4
El Mendili, M. M., Lenglet, T., Stojkovic, T., Behin, A., Guimaraes-Costa, R., Salachas, F., Meininger, V., Bruneteau, G., Le Forestier, N., Laforet, P., Lehericy, S., Benali, H., Pradat, P. F. :
Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA PLoS ONE, 2016 ; 11 (12) : e0167886
Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA PLoS ONE, 2016 ; 11 (12) : e0167886
Vilmont, V., Cadot, B., Ouanounou, G., Gomes, E. R. :
A system for studying mechanisms of neuromuscular junction development and maintenance Development, 2016 ; 143 (13) : 2464-77
A system for studying mechanisms of neuromuscular junction development and maintenance Development, 2016 ; 143 (13) : 2464-77
