Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
Deconinck, N, Richard, P, Allamand, V, Behin, A, Lafôret, P, Ferreiro, A, de Becdelievre, A, Ledeuil, C, Gartioux, C, Nelson, I, Carlier, R Y, Carlier, P, Wahbi, K, Romero, N, Zabot, M T, Bouhour, F, Tiffreau, V, Lacour, A, Eymard, B, Stojkovic, T
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2015)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2015)
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Diaphragmatic dysfunction in Collagen VI myopathies
Quijano-Roy, S, Khirani, S, Colella, M, Ramirez, A, Aloui, S, Wehbi, S, de Becdelievre, A, Carlier, R.Y, Allamand, V, Richard, P, Azzi, V, Estournet, B, Fauroux, B
Published in Neuromuscular disorders : NMD (01.02.2014)
Published in Neuromuscular disorders : NMD (01.02.2014)
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TRPV4 gene polymorphism as a phenotype modifier in a family with COL6-linked Bethlem myopathy
Leonard-Louis, S, Latour, P, De Becdelievre, A, Themar-Noel, C, Fournier, E, Stojkovic, T
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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4 The novel p.Cys1410 mutation causes severe neonatal CF in a Western Sub-Saharan African family
Mekki, C, Mirlesse, V, Le Floch, A, Eche, E, Rideau, A, Bienvenu, T, Girodon, E, Gérardin, M, Fanen, P, de Becdelievre, A
Published in Journal of cystic fibrosis (01.06.2017)
Published in Journal of cystic fibrosis (01.06.2017)
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P.1.7 Contiguous gene syndrome causing ColVI myopathy, dysmorphism, frontal atrophy and diaphragmatic hernia
Seferian, A.M, Vandenbrande, L, Allamand, V, de Becdelievre, A, Richard, P, Lyonnet, S, Malan, V, Servais, L
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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38 Combination of CFTR mutations producing frequent complex alleles with different clinical and functional outcomes
El Seedy, A, Girodon, E, Norez, C, Pajaud, J, Pasquet, M.-C, de Becdelievre, A, Becq, F, Kitzis, A, Fanen, P, Ladeveze, V
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)
Delplanque, J., Devos, D., Vuillaume, I., De Becdelievre, A., Vangelder, E., Maurage, C. A., Dujardin, K., Destée, A., Sablonnière, B.
Published in Cerebellum (London, England) (01.06.2008)
Published in Cerebellum (London, England) (01.06.2008)
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Deformation capability and protective role of zirconia coatings on stainless steel
QUINSON, J. F, CHINO, C, DE BECDELIEVRE, A. M, GUIZARD, C, BRUNEL, M
Published in Journal of materials science (01.10.1996)
Published in Journal of materials science (01.10.1996)
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Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum
Cruz, S, Figueroa-Bonaparte, S, Gallardo, E, de Becdelièvre, A, Gartioux, C, Allamand, V, Piñol, P, Rodríguez-García, M, Jiménez-Mallebrera, C, Llauger, J, González-Rodríguez, L, Cortés-Vicente, E, Illa, I, Díaz-Manera, J
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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DISORDERS OF THE EXTRACELLULAR MATRIX
Stojkovic, T., de Becdelievre, A., Quijano-Roy, S., Jobic, V., Ledeuil, C., Gartioux, C., Allamand, V., Ferreiro, A., Behin, A., Laforet, P., Eymard, B., Richard, P., Metay, C.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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DISORDERS OF THE EXTRACELLULAR MATRIX: P.381Sequencing the fibroblasts COL6A1-3 cDNAs versus gene panel genomic DNA in the diagnostic of COLVI related myopathies
Stojkovic, T., de Becdelievre, A., Quijano-Roy, S., Jobic, V., Ledeuil, C., Gartioux, C., Allamand, V., Ferreiro, A., Behin, A., Laforet, P., Eymard, B., Richard, P., Metay, C.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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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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The electrochemical behaviour in acidic and chloride solutions of amorphous hydrogenated carbon thin films deposited on single crystal germanium slices (n-type) by plasma decomposition of methane
Vouagner, D., de Becdelievre, A.M., Keddam, M., Mackowski, J.M.
Published in Corrosion science (1993)
Published in Corrosion science (1993)
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WS21.6 A novel 5′ alternative CFTR mRNA isoform may be a cause of CFTR dysfunction in a patient with nasal polyposis
Hinzpeter, A, de Becdelièvre, A, Bieth, E, Gameiro, C, Brémont, F, Martin, N, Costes, B, Costa, C, Aissat, A, Goossens, M, Fanen, P, Girodon, E
Published in Journal of cystic fibrosis (01.06.2013)
Published in Journal of cystic fibrosis (01.06.2013)
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Heterogeneity Of Lung Disease Associated With Nk2 Homeobox 1 Mutations
Epaud, R., Nattes, E., Lejeune, S., Carsin, A., Borie, R., Gibertini, I., Balinotti, J., Nathan, N., Marchand-Adam, Sylvain, Thumerelle, C., Fauroux, B., Bosdure, E., Houdouin, V., Delestrain, C., Louha, M., Couderc, R., de Becdelievre, A., Fanen, P., Funalot, B., Crestani, B., Dubus, J. -C., Deschildre, A.
Published in American journal of respiratory and critical care medicine (2017)
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Published in American journal of respiratory and critical care medicine (2017)
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C80-A EVERYTHING YOU NEED TO KNOW ABOUT BRONCHOPULMONARY DYSPLASIA, CYSTIC FIBROSIS AND DIFFUSE PARENCHYMAL LUNG DISEASES: Heterogeneity Of Lung Disease Associated With Nk2 Homeobox 1 Mutations
Epaud, R, Nattes, E, Lejeune, S, Carsin, A, Borie, R, Gibertini, I, Balinotti, J, Nathan, N, Marchand-Adam, S, Thumerelle, C, Fauroux, B, Bosdure, E, Houdouin, V, Delestrain, C, Louha, M, Couderc, R, De Becdelievre, A, Fanen, P, Funalot, B, Crestani, B, Dubus, J-C, Deschildre, A
Published in American journal of respiratory and critical care medicine (01.01.2017)
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Published in American journal of respiratory and critical care medicine (01.01.2017)
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Combined Computational-Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level
Aissat, Abdel, de Becdelièvre, Alix, Golmard, Lisa, Vasseur, Christian, Costa, Catherine, Chaoui, Asma, Martin, Natacha, Costes, Bruno, Goossens, Michel, Girodon, Emmanuelle, Fanen, Pascale, Hinzpeter, Alexandre
Published in Human mutation (01.06.2013)
Published in Human mutation (01.06.2013)
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