Fledrich, R., Mannil, M., Leha, A., Ehbrecht, C., Solari, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Schnizer, T. J., Prukop, T., Garcia-Angarita, N., Czesnik, D., Haberlova, J., Mazanec, R., Paulus, W., Beissbarth, T., Walter, M. C., Triaal, C., Hogrel, J. Y., Dubourg, O., Schenone, A., Baets, J., De Jonghe, P., Shy, M. E., Horvath, R., Pareyson, D., Seeman, P., Young, P., Sereda, M. W. :
Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A
J Neurol Neurosurg Psychiatry, 2017 ; 88 (11) : 941-952
Publications (1181)
Vihola, A., Luque, H., Savarese, M., Penttila, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I., Udd, B. :
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy Neuropathol Appl Neurobiol, 2017 ; (SP) :
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy Neuropathol Appl Neurobiol, 2017 ; (SP) :
Mankodi, A., Azzabou, N., Bulea, T., Reyngoudt, H., Shimellis, H., Ren, Y., Kim, E., Fischbeck, K. H., Carlier, P. G. :
Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy Neuromuscul Disord, 2017 ; 27 (8) : 705-714
Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy Neuromuscul Disord, 2017 ; 27 (8) : 705-714
Thibaud, J. L., Matot, B., Barthelemy, I., Fromes, Y., Blot, S., Carlier, P. G. :
Anatomical and mesoscopic characterization of the dystrophic diaphragm: An in vivo nuclear magnetic resonance imaging study in the Golden retriever muscular dystrophy dog Neuromuscul Disord, 2017 ; 27 (4) : 315-325
Anatomical and mesoscopic characterization of the dystrophic diaphragm: An in vivo nuclear magnetic resonance imaging study in the Golden retriever muscular dystrophy dog Neuromuscul Disord, 2017 ; 27 (4) : 315-325
Le Dour, C., Macquart, C., Sera, F., Homma, S., Bonne, G., Morrow, J. P., Worman, H. J., Muchir, A. :
Decreased WNT/beta-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene Hum Mol Genet, 2017 ; 26 (2) : 333-343
Decreased WNT/beta-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene Hum Mol Genet, 2017 ; 26 (2) : 333-343
Marion, S., Behin, A., Attarian, S. :
Myopathie GNE : L’échec averé de l’acide sialique… et après ? Med Sci (Paris), 2017 ; 33 Hors Serie : 55-56
Myopathie GNE : L’échec averé de l’acide sialique… et après ? Med Sci (Paris), 2017 ; 33 Hors Serie : 55-56
Santos-Zas, I., Negroni, E., Mamchaoui, K., Mosteiro, C. S., Gallego, R., Butler-Browne, G. S., Pazos, Y., Mouly, V., Camina, J. P. :
Obestatin Increases the Regenerative Capacity of Human Myoblasts Transplanted Intramuscularly in an Immunodeficient Mouse Model Mol Ther, 2017 ; (SP) :
Obestatin Increases the Regenerative Capacity of Human Myoblasts Transplanted Intramuscularly in an Immunodeficient Mouse Model Mol Ther, 2017 ; (SP) :
Flores Alves Dos Santos, J., Tezenas du Montcel, S., Gargiulo, M., Behar, C., Montel, S., Hergueta, T., Navarro, S., Belaid, H., Cloitre, P., Karachi, C., Mallet, L., Welter, M. L. :
Tackling psychosocial maladjustment in Parkinson’s disease patients following subthalamic deep-brain stimulation: A randomised clinical trial PLoS ONE, 2017 ; 12 (4) : e0174512
Tackling psychosocial maladjustment in Parkinson’s disease patients following subthalamic deep-brain stimulation: A randomised clinical trial PLoS ONE, 2017 ; 12 (4) : e0174512
Anghelescu, C., Francou, B., Cardas, R., Guiochon-Mantel, A., Aubourg, P., Servais, L., Gidaro, T. :
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype Eur J Neurol, 2017 ; 24 (3) : e15-e16
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype Eur J Neurol, 2017 ; 24 (3) : e15-e16
Garibaldi, M., Fattori, F., Riva, B., Labasse, C., Brochier, G., Ottaviani, P., Sacconi, S., Vizzaccaro, E., Laschena, F., Romero, N. B., Genazzani, A., Bertini, E., Antonini, G. :
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis Clin Genet, 2017 ; 91 (5) : 780-786
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis Clin Genet, 2017 ; 91 (5) : 780-786
