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P.12.6 Congenital myasthenic syndromes: Diagnosis difficulties, course and prognosis, and therapy – The French CMS network experience
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Published in Neuromuscular disorders : NMD (01.10.2013)
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The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
Müller, J S, Abicht, A, Burke, G, Cossins, J, Richard, P, Baumeister, S K, Stucka, R, Eymard, B, Hantaï, D, Beeson, D, Lochmüller, H
Published in Journal of medical genetics (01.08.2004)
Published in Journal of medical genetics (01.08.2004)
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Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes
Richard, P, Gaudon, K, Andreux, F, Yasaki, E, Prioleau, C, Bauché, S, Barois, A, Ioos, C, Mayer, M, Routon, M C, Mokhtari, M, Leroy, J P, Fournier, E, Hainque, B, Koenig, J, Fardeau, M, Eymard, B, Hantaï, D
Published in Journal of medical genetics (01.06.2003)
Published in Journal of medical genetics (01.06.2003)
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Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms
Ioos, C, Barois, A, Richard, P, Eymard, B, Hantaï, D, Estournet-Mathiaud, B
Published in Neuropediatrics (01.08.2004)
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P2.37 Long term prognosis of congenital myasthenic syndromes (CMS): The French CMS network experience
Eymard, B, Alexandri, N, Ammar, A. Ben, Petit, F, Wargon, I, Laforêt, P, Stojkovic, T, Béhin, A, Estournet, B, Mayer, M, Viollet, L, Fournier, E, Fardeau, M, Orlikowski, D, Pouget, J, Desnuelle, C, Pénisson-Besnier, I, Ferrer, X, Lacour, A, Richard, P, Sternberg, D, Hantaï, D
Published in Neuromuscular disorders : NMD (01.10.2010)
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Ultrastructural localization of cellular prion protein (PrPc) at the neuromuscular junction
Gohel, C., Grigoriev, V., Escaig-Haye, F., Lasmézas, C. I., Deslys, J.-P., Langeveld, J., Akaaboune, M., Hantaï, D., Fournier, J.-G.
Published in Journal of neuroscience research (15.01.1999)
Published in Journal of neuroscience research (15.01.1999)
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Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency
Ishigaki, Keiko, Nicolle, Delphine, Krejci, Eric, Leroy, Jean-Paul, Koenig, Jeanine, Fardeau, Michel, Eymard, Bruno, Hantaı̈, Daniel
Published in Neuromuscular disorders : NMD (01.03.2003)
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Beneficial effects of insulin-like growth factor-I on wobbler mouse motoneuron disease
Hantaï, D., Akaaboune, M., Lagord, C., Murawsky, M., Houenou, L.J., Festoff, B.W., Vaught, J.L., Rieger, F., Blondet, B.
Published in Journal of the neurological sciences (01.05.1995)
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Syndromes myasthéniques congénitaux : difficultés diagnostiques, évolution et pronostic, thérapeutique L’expérience du réseau national « Syndromes Myasthéniques Congénitaux
Eymard, B., Stojkovic, T., Sternberg, D., Richard, P., Nicole, S., Fournier, E., Béhin, A., Laforêt, P., Servais, L., Romero, N., Fardeau, M., Hantaï, D.
Published in Revue neurologique (01.02.2013)
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A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions
Chevessier, Frédéric, Girard, Emmanuelle, Molgó, Jordi, Bartling, Sönke, Koenig, Jeanine, Hantaï, Daniel, Witzemann, Veit
Published in Human molecular genetics (15.11.2008)
Published in Human molecular genetics (15.11.2008)
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Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging
Chevessier, F, Marty, I, Paturneau-Jouas, M, Hantaı̈, D, Verdière-Sahuqué, M
Published in Neuromuscular disorders : NMD (01.03.2004)
Published in Neuromuscular disorders : NMD (01.03.2004)
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Eymard, B, Ghorab, K, Laforet, P, Chevessier, F, Vallat, J, Hantai, D, Romero, N, Böhm, J, Laporte, J
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience
Eymard, B, Stojkovic, T, Sternberg, D, Richard, P, Nicole, S, Fournier, E, Béhin, A, Laforêt, P, Servais, L, Romero, N, Fardeau, M, Hantaï, D
Published in Revue neurologique (01.02.2013)
Published in Revue neurologique (01.02.2013)
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Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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Organisation structurale, moléculaire, formation et maturation de la jonction neuromusculaire
Rigoard, P, Buffenoir, K, Bauche, S, Giot, J.-P, Koenig, J, Hantaï, D, Lapierre, F, Wager, M
Published in Neuro-chirurgie (01.03.2009)
Published in Neuro-chirurgie (01.03.2009)
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