Bachinski, L. L., Baggerly, K. A., Neubauer, V. L., Nixon, T. J., Raheem, O., Sirito, M., Unruh, A. K., Zhang, J., Nagarajan, L., Timchenko, L. T., Bassez, G., Eymard, B., Gamez, J., Ashizawa, T., Mendell, J. R., Udd, B., Krahe, R. :
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies
Neuromuscul Disord, 2014 ; 24 (3) : 227-40
Publications (1184)
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
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
Hervier, B., Benveniste, O. :
Phénotypes cliniques et pronostic du syndrome des antisynthétases Rev Med Interne, 2014 ; 35 (7) : 453-460
Phénotypes cliniques et pronostic du syndrome des antisynthétases Rev Med Interne, 2014 ; 35 (7) : 453-460
Quijano-Roy, S., Khirani, S., Colella, M., Ramirez, A., Aloui, S., Wehbi, S., de Becdelievre, A., Carlier, R. Y., Allamand, V., Richard, P., Azzi, V., Estournet, B., Fauroux, B. :
Diaphragmatic dysfunction in Collagen VI myopathies Neuromuscul Disord, 2014 ; 24 (2) : 125-33
Diaphragmatic dysfunction in Collagen VI myopathies Neuromuscul Disord, 2014 ; 24 (2) : 125-33
Berrih-Aknin, S. :
Myasthenia Gravis: Paradox versus paradigm in autoimmunity J Autoimmun, 2014 ; 52C : 1-28
Myasthenia Gravis: Paradox versus paradigm in autoimmunity J Autoimmun, 2014 ; 52C : 1-28
