Dorboz, I., Coutelier, M., Bertrand, A. T., Caberg, J. H., Elmaleh-Berges, M., Laine, J., Stevanin, G., Bonne, G., Boespflug-Tanguy, O., Servais, L. :
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
Orphanet J Rare Dis, 2014 ; 9 (1) : 174
Publications (1181)
Lefevre, G., Meyer, A., Launay, D., Machelart, I., DeBandt, M., Michaud, J., Tournadre, A., Godmer, P., Kahn, J. E., Behra-Marsac, A., Timsit, M. A., Schleinitz, N., Wendling, D., Melac-Ducamp, S., Boyer, P., Peretz, A., Lequerre, T., Richez, C., Stervinou-Wemeau, L., Morell-Dubois, S., Lambert, M., Dubucquoi, S., Wallaert, B., Benveniste, O., Flipo, R. M., Hatron, P. Y., Sibilia, J., Hachulla, E., Hervier, B., on behalf of the Club Rhumatismes, Inflammation :
Seronegative polyarthritis revealing antisynthetase syndrome: a multicentre study of 40 patients Rheumatology (Oxford), 2014 ; :
Seronegative polyarthritis revealing antisynthetase syndrome: a multicentre study of 40 patients Rheumatology (Oxford), 2014 ; :
Schwoerer, A. P., Neef, S., Broichhausen, I., Jacubeit, J., Tiburcy, M., Wagner, M., Biermann, D., Didie, M., Vettel, C., Maier, L. S., Zimmermann, W. H., Carrier, L., Eschenhagen, T., Volk, T., El-Armouche, A., Ehmke, H. :
Enhanced Ca(2)+ influx through cardiac L-type Ca(2)+ channels maintains the systolic Ca(2)+ transient in early cardiac atrophy induced by mechanical unloading Pflugers Arch, 2014 ; 465 (12) : 1763-73
Enhanced Ca(2)+ influx through cardiac L-type Ca(2)+ channels maintains the systolic Ca(2)+ transient in early cardiac atrophy induced by mechanical unloading Pflugers Arch, 2014 ; 465 (12) : 1763-73
Boizot, A., Talmat-Amar, Y., Morrogh, D., Kuntz, N. L., Halbert, C., Chabrol, B., Houlden, H., Stojkovic, T., Schulman, B. A., Rautenstrauss, B., Bomont, P. :
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test Acta Neuropathol Commun, 2014 ; 2 (1) : 47
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test Acta Neuropathol Commun, 2014 ; 2 (1) : 47
Finsterer, J., Wahbi, K. :
CNS-disease affecting the heart: Brain-heart disorders J Neurol Sci, 2014 ; 345 (1-2) : 8-14
CNS-disease affecting the heart: Brain-heart disorders J Neurol Sci, 2014 ; 345 (1-2) : 8-14
Musset, L., Miyara, M., Benveniste, O., Charuel, J. L., Shikhman, A., Boyer, O., Fowler, R., Mammen, A., Phillips, J., Mahler, M. :
Analysis of Autoantibodies to 3-Hydroxy-3-methylglutaryl-coenzyme A Reductase Using Different Technologies J Immunol Res, 2014 ; 2014 : 405956
Analysis of Autoantibodies to 3-Hydroxy-3-methylglutaryl-coenzyme A Reductase Using Different Technologies J Immunol Res, 2014 ; 2014 : 405956
van Dijk, G. P., van der Kooi, E., Behin, A., Smeets, J., Timmermans, J., van der Maarel, S., Padberg, G., Voermans, N., van Engelen, B. :
High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms Funct Neurol, 2014 ; 29 (3) : 159-165
High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms Funct Neurol, 2014 ; 29 (3) : 159-165
Baraibar, M., Hyzewicz, J., Rogowska-Wrzesinska, A., Bulteau, A. L., Prip-Buus, C., Butler-Browne, G., Friguet, B. :
Impaired metabolism of senescent muscle satellite cells is associated with oxidative modifications of glycolytic enzymes Free Radic Biol Med, 2014 ; 75 Suppl 1 : S23
Impaired metabolism of senescent muscle satellite cells is associated with oxidative modifications of glycolytic enzymes Free Radic Biol Med, 2014 ; 75 Suppl 1 : S23
Attarian, S., Vallat, J. M., Magy, L., Funalot, B., Gonnaud, P. M., Lacour, A., Pereon, Y., Dubourg, O., Pouget, J., Micallef, J., Franques, J., Lefebvre, M. N., Ghorab, K., Al-Moussawi, M., Tiffreau, V., Preudhomme, M., Magot, A., Leclair-Visonneau, L., Stojkovic, T., Bossi, L., Lehert, P., Gilbert, W., Bertrand, V., Mandel, J., Milet, A., Hajj, R., Boudiaf, L., Scart-Gres, C., Nabirotchkin, S., Guedj, M., Chumakov, I., Cohen, D. :
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A Orphanet J Rare Dis, 2014 ; 9 (1) : 199
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A Orphanet J Rare Dis, 2014 ; 9 (1) : 199
Colomban, C., Micallef, J., Lefebvre, M. N., Dubourg, O., Gonnaud, P. M., Stojkovic, T., Jouve, E., Blin, O., Pouget, J., Attarian, S. :
Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patients J Neurol Sci, 2014 ; 336 (1-2) : 155-60
Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patients J Neurol Sci, 2014 ; 336 (1-2) : 155-60
