Malfatti, E., Romero, N. B. :
Nemaline myopathies: State of the art
Rev Neurol (Paris), 2016 ; 172 (10) : 614-619
Publications (1184)
Willkomm, L., Heredia, R., Hoffmann, K., Wang, H., Voit, T., Hoffman, E. P., Cirak, S. :
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia J Hum Genet, 2016 ; :
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia J Hum Genet, 2016 ; :
Roy, P., Rau, F., Ochala, J., Messeant, J., Fraysse, B., Laine, J., Agbulut, O., Butler-Browne, G., Furling, D., Ferry, A. :
Dystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle Skelet Muscle, 2016 ; 6 : 23
Dystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle Skelet Muscle, 2016 ; 6 : 23
Finsterer, J., Wahbi, K. :
Cardiac disease in brain-heart disorders Acta Cardiol, 2016 ; 71 (4) : 389-94
Cardiac disease in brain-heart disorders Acta Cardiol, 2016 ; 71 (4) : 389-94
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) :
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing Nucleic Acids Res, 2016 ; (SP) :
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
