G.P.269
Garibaldi, M, Malfatti, E, Brochier, G, Cuisset, J.M, Maurage, C.A, Monnier, N, Eymard, B, Laporte, J, Fardeau, M, Romero, N.B
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
T.P.13
Seferian, A.M, Moraux, A, Annoussamy, M, Canal, A, Decostre, V, Diebate, O, Le Moing, A.G, Gidaro, T, Deconinck, N, Parys, F. Van, Vereecke, W, Wittevrongel, S, Mayer, M, Maincent, K, Desguerre, I, Themar-Noel, C, Cuisset, J.M, Tiffereau, V, Denis, S, Jousten, V, Quijano-Roy, S, Voit, T, Hogrel, J.Y, Servais, L
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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G.P.39
Annoussamy, M, Landy, H, Ramsdell, D, Nelken, M, Muntoni, F, Bönnemann, C, Bharucha, D, Dowling, J.J, Amburgey, K, Lilien, C, Ollivier, G, Laporte, J, Biancalana, V, Schara, U, Cuisset, J.M, D’Amico, A, Deconinck, N, Jeannet, P.Y, Klein, A, Fluss, J, Mayer, M, Seferian, A.M, Moing, A.G. Le, Gidaro, T, Hogrel, J.Y, Mingozzi, F, Buj-Bello, A, Voit, T, Servais, L
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
Acute Hydrocephalus Revealing Infantile Onset of Pompe Disease
Dobbelaere, D, Jissendi, P, Cuisset, J.M, Mention, K, Soto Ares, G
Published in Clinical therapeutics (01.06.2011)
Published in Clinical therapeutics (01.06.2011)
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Journal Article
G.O.19
Dessaud, E, André, C, Scherrer, B, Berna, P, Pruss, R, Cuvier, V, Hauke, W, Bruno, C, Chabrol, B, Comi, G, Cuisset, J.M, Deconinck, N, Goemans, N, Estournet, B, Fontaine-Carbonel, S, Gorni, K, Kirschner, J, Lusakowska, A, Lochmuller, H, Mayer, M, Mercuri, E, Müller-Felber, W, Muntoni, F, Rivier, F, Roper, H, Schara, U, den Berg, L. Van, Vita, G, Walter, M, Bertini, E
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
P.20.14 Non ambulant patients with deletion treatable by exon skipping 53 present a more severe phenotype than the general Duchenne population
Servais, L, Seferian, A, Ben Yahou, R, Leturcq, F, Zehrouni, K, Benali, M, Decostre, V, Delahais, V, Butoianu, N, Cuisset, J.M, Cances, C, Le Moing, A.G, Laugel, V, Klein, A, Sabouraud, P, Le Guiner, C, Moullier, P, Moraux, A, Hogrel, J.Y, Montus, M, Voit, T
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
P.6.1 Clinical and upper limb evaluation at one year of non-ambulant patients with spinal muscular atrophy
Seferian, A.M, Moraux, A, Benali, M, Canal, A, Decostre, V, Diebate, O, Deconinck, N, Parys, F. Van, Vereecke, W, Wittevrongel, S, Jousten, V, Denis, S, Cuisset, J.M, Tiffreau, V, Mayer, M, Desguerre, I, Maincent, K, Themar-Noel, C, Quijano-Roy, S, Voit, T, Hogrel, J.Y, Servais, L
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
G.P.7.08 A new form of myopathy in four siblings with a distinctive muscle MRI pattern
Cuisset, J.M, Clarke, N.F, Maurage, C.A, Vaksmann, G, Maugenre, S, Quijano-Roy, S, Romero, N.B, Guicheney, P
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
G.O.7 A homozygous desmin deletion causes an Emery-Dreifuss like recessive myopathy with desmin depletion
Carmignac, V, Sharma, S, Arbogast, S, Fischer, D, Serreri, C, Serria, M, Stoltenburg, G, Maurage, C.A, Herrmann, H, Cuisset, J.M, Bär, H, Ferreiro, A
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
T.P.2.06 Modulation of small mutations in dystrophin “skippable” exons: In vitro studies to identify the optimal PS-AONs
Spitali, P, Fabris, M, Falzarano, S, Sabatelli, P, Bovolenta, M, Neri, M, Martoni, E, Bassi, E, Tuffery-Giraud, S, Claustres, M, Cuisset, J.M, Gualandi, F, Rimessi, P, Ferlini, A
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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Journal Article
G.P.269: CAP-disease not-related to ACTA1, TPM2 or TPM3 genes
Garibaldi, M., Malfatti, E., Brochier, G., Cuisset, J.M., Maurage, C.A., Monnier, N., Eymard, B., Laporte, J., Fardeau, M., Romero, N.B.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
T.P.13: Upper limb performance changes during a one-year follow-up in non-ambulant patients with Duchenne muscular dystrophy
Seferian, A.M., Moraux, A., Annoussamy, M., Canal, A., Decostre, V., Diebate, O., Le Moing, A.G., Gidaro, T., Deconinck, N., Parys, F. Van, Vereecke, W., Wittevrongel, S., Mayer, M., Maincent, K., Desguerre, I., Themar-Noel, C., Cuisset, J.M., Tiffereau, V., Denis, S., Jousten, V., Quijano-Roy, S., Voit, T., Hogrel, J.Y., Servais, L.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.O.19: Results of a phase II study to assess safety and efficacy of olesoxime (TRO19622) in 3–25 years old spinal muscular atrophy patients
Dessaud, E., André, C., Scherrer, B., Berna, P., Pruss, R., Cuvier, V., Hauke, W., Bruno, C., Chabrol, B., Comi, G., Cuisset, J.M., Deconinck, N., Goemans, N., Estournet, B., Fontaine-Carbonel, S., Gorni, K., Kirschner, J., Lusakowska, A., Lochmuller, H., Mayer, M., Mercuri, E., Müller-Felber, W., Muntoni, F., Rivier, F., Roper, H., Schara, U., den Berg, L. Van, Vita, G., Walter, M., Bertini, E.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
G.P.39: An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy
Annoussamy, M., Landy, H., Ramsdell, D., Nelken, M., Muntoni, F., Bönnemann, C., Bharucha, D., Dowling, J.J., Amburgey, K., Lilien, C., Ollivier, G., Laporte, J., Biancalana, V., Schara, U., Cuisset, J.M., D’Amico, A., Deconinck, N., Jeannet, P.Y., Klein, A., Fluss, J., Mayer, M., Seferian, A.M., Moing, A.G. Le, Gidaro, T., Hogrel, J.Y., Mingozzi, F., Buj-Bello, A., Voit, T., Servais, L.
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
N.P.4 07 Typical spinal muscular atrophy with pharmacoresistant epilepsy: A pediatric case report
Cuisset, J.M., Couttenier, F., Auvin, S., Cuvellier, J.C., Soto-Ares, G., Vallée, L.
Published in Neuromuscular disorders : NMD (01.10.2006)
Published in Neuromuscular disorders : NMD (01.10.2006)
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Journal Article
GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene
Dubot, A, Godinot, C, Dumur, V, Sablonnière, B, Stojkovic, T, Cuisset, J.M, Vojtiskova, A, Pecina, P, Jesina, P, Houstek, J
Published in Biochemical and biophysical research communications (16.01.2004)
Published in Biochemical and biophysical research communications (16.01.2004)
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Journal Article
Syndrome catatonique précoce et encéphalite à auto-anticorps antirécepteurs-NMDA : une mise au point
Parenti, A., Delion, P., Geoffroy, P.A., Meurisse, C., Cuisset, J.M., Joriot, S., Nasser, H., Trauffler, A., Kechid, G., Goeb, J.L., Hagneré, L., Jardri, R., Vallée, L.
Published in Neuropsychiatrie de l'enfance et de l'adolescence (01.05.2015)
Published in Neuropsychiatrie de l'enfance et de l'adolescence (01.05.2015)
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Journal Article
‘Cap myopathy’: Case report of a family
Cuisset, J.M., Maurage, C.A., Pellissier, J.F., Barois, A., Urtizberea, J.A., Laing, N., Tajsharghi, H., Vallée, L.
Published in Neuromuscular disorders : NMD (01.04.2006)
Published in Neuromuscular disorders : NMD (01.04.2006)
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J - 5 Le gène POMT2 est impliqué dans les dystrophies musculaires congénitales (CMD) avec microcéphalie et retard mental
Bouchet, C., Yanagisawa, A., Peter, Y., Van den Bergh, K., Cuisset, J.M., Viollet, L., Leturcq, F., Romero, N.B., Quijano-Roy, S., Fardeau, M., Seta, N., Guicheney, P.
Published in Revue neurologique (01.04.2007)
Published in Revue neurologique (01.04.2007)
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