Guarani, V., Jardel, C., Chretien, D., Lombes, A., Benit, P., Labasse, C., Lacene, E., Bourillon, A., Imbard, A., Benoist, J. F., Dorboz, I., Gilleron, M., Goetzman, E. S., Gaignard, P., Slama, A., Elmaleh-Berges, M., Romero, N. B., Rustin, P., Ogier de Baulny, H., Paulo, J. A., Harper, J. W., Schiff, M. :
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Elife, 2016 ; 5 : e17163
Publications (1184)
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) :
Santolini, M., Sakakibara, I., Gauthier, M., Ribas-Aulinas, F., Takahashi, H., Sawasaki, T., Mouly, V., Concordet, J. P., Defossez, P. A., Hakim, V., Maire, P. :
MyoD reprogramming requires Six1 and Six4 homeoproteins: genome-wide cis-regulatory module analysis Nucleic Acids Res, 2016 ; 44 (18) : 8621-8640
MyoD reprogramming requires Six1 and Six4 homeoproteins: genome-wide cis-regulatory module analysis Nucleic Acids Res, 2016 ; 44 (18) : 8621-8640
Gomez-Andres, D., Dabaj, I., Mompoint, D., Hankiewicz, K., Azzi, V., Ioos, C., Romero, N. B., Ben Yaou, R., Bergounioux, J., Bonne, G., Richard, P., Estournet, B., Yves-Carlier, R., Quijano-Roy, S. :
Pediatric laminopathies: Whole-body MRI fingerprint and comparison with SEPN1-myopathy Muscle Nerve, 2016 ; 54 (2) : 192-202
Pediatric laminopathies: Whole-body MRI fingerprint and comparison with SEPN1-myopathy Muscle Nerve, 2016 ; 54 (2) : 192-202
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
Vilmont, V., Cadot, B., Vezin, E., Le Grand, F., Gomes, E. R. :
Dynein disruption perturbs post-synaptic components and contributes to impaired MuSK clustering at the NMJ: implication in ALS Sci Rep, 2016 ; 6 : 27804
Dynein disruption perturbs post-synaptic components and contributes to impaired MuSK clustering at the NMJ: implication in ALS Sci Rep, 2016 ; 6 : 27804
Bougerol, M., Aurade, F., Lambert, F. M., Le Ray, D., Combes, D., Thoby-Brisson, M., Relaix, F., Pollet, N., Tostivint, H. :
Generation of BAC Transgenic Tadpoles Enabling Live Imaging of Motoneurons by Using the Urotensin II-Related Peptide (ust2b) Gene as a Driver PLoS ONE, 2015 ; 10 (2) : e0117370
Generation of BAC Transgenic Tadpoles Enabling Live Imaging of Motoneurons by Using the Urotensin II-Related Peptide (ust2b) Gene as a Driver PLoS ONE, 2015 ; 10 (2) : e0117370
Orngreen, M. C., Vissing, J., Laforet, P. :
No effect of bezafibrate in patients with CPTII and VLCAD deficiencies J Inherit Metab Dis, 2015 ; 38 (2) : 373-374
No effect of bezafibrate in patients with CPTII and VLCAD deficiencies J Inherit Metab Dis, 2015 ; 38 (2) : 373-374
