Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., Rossi, M., Till, M., Mougou-Zerelli, S., Edery, P., Saad, A., Heron, D., des Portes, V., Sanlaville, D., Lesca, G.
Published in Clinical genetics (01.02.2016)
Published in Clinical genetics (01.02.2016)
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Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients
Servais, L, Deconinck, N, Moraux, A, Benali, M, Canal, A, Van Parys, F, Vereecke, W, Wittevrongel, S, Mayer, M, Desguerre, I, Maincent, K, Themar-Noel, C, Quijano-Roy, S, Serari, N, Voit, T, Hogrel, J.-Y
Published in Neuromuscular disorders : NMD (01.02.2013)
Published in Neuromuscular disorders : NMD (01.02.2013)
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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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Journal Article
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies
Vuillaumier-Barrot, S, Bouchet-Seraphin, C, Chelbi, M, Eude-Caye, A, Charluteau, E, Besson, C, Quentin, S, Devisme, L, Le Bizec, C, Landrieu, P, Goldenberg, A, Maincent, K, Loget, P, Boute, O, Gilbert-Dussardier, B, Encha-Razavi, F, Gonzales, M, Grandchamp, B, Seta, N
Published in Neuromuscular disorders : NMD (01.11.2011)
Published in Neuromuscular disorders : NMD (01.11.2011)
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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.13.14 A new form of congenital myopathy with severe fibre immaturity
Amthor, H, Quijano-Roy, S, Mayer, M, Maincent, K, Estournet, B, Bataille, J, Essid, A, Lombes, A, Guicheney, P, Fardeau, M, Claeys, K, Rambaud, C, Gelot, A, Stoltenburg-Didinger, G
Published in Neuromuscular disorders : NMD (01.10.2008)
Published in Neuromuscular disorders : NMD (01.10.2008)
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Journal Article
Polyhandicap and aging
Rousseau, Marie-Christine, de Villemeur, Thierry Billette, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Loundou, Anderson, Baumstarck, Karine, Auquier, Pascal
Published in Disability and health journal (01.10.2019)
Published in Disability and health journal (01.10.2019)
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Journal Article
P165 – 1953 Hopkins' syndrome a rare complication of asthma
Crozier, J, Espil-Taris, C, Maincent, K, Meyer, P, Nogues, M-C, Rivier, F, Echenne, B, Roubertie, A
Published in European journal of paediatric neurology (01.09.2013)
Published in European journal of paediatric neurology (01.09.2013)
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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
PP3.7 – 2011 Acute and subacute chorea in a French series of 37 children
Doummar, D, Grisel, C, Roubertie, A, Héron, B, Gras, D, Laroche, C, Sabouraud, P, Motte, J, Maincent, K, Isapof, A, Rodriguez, D, Billette de Villemeur, T
Published in European journal of paediatric neurology (01.09.2013)
Published in European journal of paediatric neurology (01.09.2013)
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Journal Article
Dendritic cells for NK/LAK activation: rationale for multicellular immunotherapy in neuroblastoma patients
Valteau-Couanet, Dominique, Leboulaire, Christophe, Maincent, Kim, Tournier, Muriel, Hartmann, Olivier, Bénard, Jean, Beaujean, Françoise, Boccaccio, Catherine, Zitvogel, Laurence, Angevin, Eric
Published in Blood (01.10.2002)
Published in Blood (01.10.2002)
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Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene
Portes, Vincent des, Boddaert, Nathalie, Sacco, Silvia, Briault, Sylvain, Maincent, Kim, Bahi, Nadia, Gomot, Marie, Ronce, Nathalie, Bursztyn, Joseph, Adamsbaum, Catherine, Zilbovicius, Monica, Chelly, Jamel, Moraine, Claude
Published in American journal of medical genetics. Part A (01.02.2004)
Published in American journal of medical genetics. Part A (01.02.2004)
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Journal Article
Les chorées d’apparition aiguë ou subaiguë chez l’enfant : étude de 35 enfants (vidéo)
Doummar, D., Roubertie, A., Héron, B., Gras, D., Laroche, C., Motte, J., Maincent, K., Isapof, A., Rodriguez, D., Billette De Villemeur, T.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2013)
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Journal Article
High-dose busulfan + melphalan (BuMel) with autologous stem cell support for metastatic Ewing's tumor (ET). The experience of the French Society of Pediatric Oncology, EW91 study
Oberlin, O., Maincent, K., Michon, J., Bergeron, C., Rubie, H., Plantaz, D., Roche, H., Plouvier, E., Hartmann, O.
Published in European journal of cancer (1990) (01.04.2001)
Published in European journal of cancer (1990) (01.04.2001)
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