Romero, N. B., Clarke, N. F. :
Congenital myopathies
Handb Clin Neurol, 2013 ; 113 : 1321-36
Publications (1181)
Servais, L., Baudoin, H., Zehrouni, K., Richard, P., Sternberg, D., Fournier, E., Eymard, B., Stojkovic, T. :
Pregnancy in congenital myasthenic syndrome J Neurol, 2013 ; 260 (3) : 815-819
Pregnancy in congenital myasthenic syndrome J Neurol, 2013 ; 260 (3) : 815-819
Donadille, B., D'Anella, P., Auclair, M., Uhrhammer, N., Sorel, M., Grigorescu, R., Ouzounian, S., Cambonie, G., Boulot, P., Laforet, P., Carbonne, B., Christin-Maitre, S., Bignon, Y. J., Vigouroux, C. :
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome Orphanet J Rare Dis, 2013 ; 8 (1) : 106
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome Orphanet J Rare Dis, 2013 ; 8 (1) : 106
Voermans, N. C., Jungbluth, H., Brusse, E., van Engelen, B. G., Laforet, P. :
Exertional hyperCKemia might be the first manifestation of a genetic disorder Muscle Nerve, 2013 ; 48 (3) : 461-2
Exertional hyperCKemia might be the first manifestation of a genetic disorder Muscle Nerve, 2013 ; 48 (3) : 461-2
McDonald, C. M., Henricson, E. K., Abresch, R. T., Florence, J., Eagle, M., Gappmaier, E., Glanzman, A. M., Spiegel, R., Barth, J., Elfring, G., Reha, A., Peltz, S. W. :
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study Muscle Nerve, 2013 ; 48 (3) : 357-68
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study Muscle Nerve, 2013 ; 48 (3) : 357-68
Hantai, D., Nicole, S., Eymard, B. :
Congenital myasthenic syndromes: an update Curr Opin Neurol, 2013 ; 26 (5) : 561-568
Congenital myasthenic syndromes: an update Curr Opin Neurol, 2013 ; 26 (5) : 561-568
Yiou, R., Hogrel, J. Y., Loche, C. M., Authier, F. J., Lecorvoisier, P., Jouany, P., Roudot-Thoraval, F., Lefaucheur, J. P. :
Periurethral skeletal myofibre implantation in patients with urinary incontinence and intrinsic sphincter deficiency: a phase I clinical trial BJU Int, 2013 ; 111 (7) : 1105-16
Periurethral skeletal myofibre implantation in patients with urinary incontinence and intrinsic sphincter deficiency: a phase I clinical trial BJU Int, 2013 ; 111 (7) : 1105-16
Crocini, C., Arimura, T., Reischmann, S., Eder, A., Braren, I., Hansen, A., Eschenhagen, T., Kimura, A., Carrier, L. :
Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue Basic Res Cardiol, 2013 ; 108 (3) : 349
Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue Basic Res Cardiol, 2013 ; 108 (3) : 349
Bohm, J., Chevessier, F., De Paula, A. M., Koch, C., Attarian, S., Feger, C., Hantai, D., Laforet, P., Ghorab, K., Vallat, J. M., Fardeau, M., Figarella-Branger, D., Pouget, J., Romero, N. B., Koch, M., Ebel, C., Levy, N., Krahn, M., Eymard, B., Bartoli, M., Laporte, J. :
Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy Am J Hum Genet, 2013 ; 92 (2) : 271-8
Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy Am J Hum Genet, 2013 ; 92 (2) : 271-8
Prevel, N., Allenbach, Y., Klatzmann, D., Salomon, B., Benveniste, O. :
Beneficial role of rapamycin in experimental autoimmune myositis PLoS ONE, 2013 ; 8 (11) : e74450
Beneficial role of rapamycin in experimental autoimmune myositis PLoS ONE, 2013 ; 8 (11) : e74450
