P.157 Dominant HSPB6 mutation in a myopathy patient
Sarparanta, J., Jonson, P., Vihola, A., Luque, H., Vainio, A., Villar-Quiles, R., Stojkovic, T., Romero, N., Eymard, B., Udd, B.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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Journal Article
VP429 Impaired skeletal muscle strength in adult patients with laminopathies
Decostre, V., Chikhaoui, C., Vigouroux, C., Behin, A., Bassez, G., Ferreiro, A., Janmaat, S., Masingue, M., Stojkovic, T., Vatier, C., Quiles, R Villar, Roy, S Quijano, Wahbi, K., Eymard, B., Bonne, G., Yaou, R Ben, Hogrel, J.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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Journal Article
CHANNELOPATHIES AND RELATED DISORDERS
Quiles, R. Villar, Tredez, G., Sternberg, D., Romero, N., Evangelista, T., Laforêt, P., Cintas, P., Sole, G., Sacconi, S., Bendahhou, S., Arzel-Hezode, M., Fournier, E., Fontaine, B., Stojkovic, T., Vicart, S.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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CHANNELOPATHIES AND RELATED DISORDERS: EP.221 Diagnostic delay and atypical phenotypes in a French cohort of Andersen-Tawil syndrome
Quiles, R. Villar, Tredez, G., Sternberg, D., Romero, N., Evangelista, T., Laforêt, P., Cintas, P., Sole, G., Sacconi, S., Bendahhou, S., Arzel-Hezode, M., Fournier, E., Fontaine, B., Stojkovic, T., Vicart, S.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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Journal Article
P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study
Schiava, M., Nishino, I., Inoue, M., Nishimori, Y., Saito, Y., Polvikoski, T., Charlton, R., Parkhurst, Y., Henderson, M., Marini-Bettolo, C., Guglieri, M., Straub, V., Weihl, C., Stojkovic, T., Villar-Quiles, R., Romero, N., Evangelista, T., Pegoraro, E., De Bleecker, J., Monforte, M., Malfatti, E., Souvannanorath, S., Severa, G., Alonso-Jiménez, A., Baets, J., De Ridder, W., De Jonghe, P., Kierdaszuk, B., Claeys, K., Muelas, N., Oldfors, A., Rodolico, C., Quin, C., Dominguez, C., Lain, A Herández, Pál, E., Papadimas, G., Kushlaf, H., Alfano, L., Alonso-Pérez, J., Luo, S., Badrising, U., Bevilacqua, J., Nedkova-Hristova, V., Cetin, H., Gelpi, E., Klotz, S., Plana, M Olivé
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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Journal Article
CONGENITAL MUSCULAR DYSTROPHIES: P.201 Clinical and molecular spectrum associated with COL6A3 c.7447A>G variant: elucidating its role in Collagen VI-related myopathies
Quiles, R. Villar, Donkevoort, S., de Becdelievre, A., Allamand, V., Jobic, V., Urtizberea, J., Sole, G., Furby, A., Cerino, M., Campana-Salort, E., Magot, A., Ferreiro, A., Eymard, B., Bönnemann, C., Richard, P., Metay, C., Stojkovic, T.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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Journal Article
CONGENITAL MUSCULAR DYSTROPHIES
Quiles, R. Villar, Donkevoort, S., de Becdelievre, A., Allamand, V., Jobic, V., Urtizberea, J., Sole, G., Furby, A., Cerino, M., Campana-Salort, E., Magot, A., Ferreiro, A., Eymard, B., Bönnemann, C., Richard, P., Metay, C., Stojkovic, T.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy
Villar-Quiles, R., Duband-Goulet, I., Cabet, E., Davignon, L., Genetti, C., Gidaro, T., Koparir, A., Yuksel, A., Coppens, S., Deconinck, N., Pierce-Hoffman, E., Juntas-Morales, R., Cossée, M., Servais, L., Olivé, M., Beggs, A., Böhm, J., Ferreiro, A.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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P.113Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readiness
Villar-Quiles, R., von der Hagen, M., Quijano-Roy, S., Gonzalez, V., Donkervoort, S., de Visser, M., Fidzianska, A., Orlikowski, D., Goemans, N., Mayer, M., Merlini, L., Romero, N., Fardeau, M., Topaloğlu, H., Métay, C., Richard, P., Estournet, B., Bönnemann, C., Schara, U., Ferreiro, A.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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