Search Results - "ALLAMAND, V"

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution by 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

“…ObjectiveMutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM)…”
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212th ENMC international workshop: animal models of congenital muscular dystrophies may 29th-31st, 2015 in naarden, the netherlands by Saunier, M, Bönnemann, CG, Durbeej, M, Allamand, V

“…Highlights • alpha-dystroglycanopathies, caused by an abnormal glycosylation of α-DG, • LAMA2 -related muscular dystrophies, due to a deficiency of…”
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Diaphragmatic dysfunction in Collagen VI myopathies by 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

“…Abstract Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has…”
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Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment by BIDOU, L, HATIN, I, PEREZ, N, ALLAMAND, V, PANTHIER, J-J, ROUSSET, J-P

“…The suppression levels induced by gentamicin on premature stop codons, caused by primary nonsense mutations found in muscular dystrophy patients, were assessed…”
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212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29–31 May 2015 by Saunier, M., Bönnemann, C.G., Durbeej, M., Allamand, V., Allamand, Valérie, Bonaldo, Paolo, Bönnemann, Carsten, Brown, Susan, Burkin, Dean, Campbell, Kevin P., Durbeej-Hjalt, Madeleine, Girgenrath, Mahasweta, Nevo, Yoram, Ruegg, Markus, Saunier, Margot, Toda, Tatsushi, Willmann, Raffaella

“…•Alpha-dystroglycanopathies, caused by an abnormal glycosylation of α-DG.•LAMA2-related muscular dystrophies, due to a deficiency of laminin-211.•COL6-related…”
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A novel neuromuscular form of glycogen storage disease type IV characterized by spinal stiffness, arthrogrypotic features, and rare polyglucosan bodies in muscle biopsy by Malfatti, E, Barnerias, C, Hedberg-Oldfors, C, Gitiaux, C, Allamand, V, Carlier, R, Oldfors, A, Quijano-Roy, S, Romero, N

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Animal models for muscular dystrophy : valuable tools for the development of therapies by ALLAMAND, Valérie, CAMPBELL, Kevin P

“…Since the identification of dystrophin as the causative factor in Duchenne muscular dystrophy, an increasing amount of information on the molecular basis of…”
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Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum by 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

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G.P.215 by Deconinck, N, De Paepe, B, Symoens, S, Vanlander, A, Gartioux, C, Allamand, V, Smet, J, Devreese, B, Van Coster, R

“…Ullrich congenital muscular dystrophy (UCMD) is a severe congenital dystrophy caused by collagen VI (COL VI) mutations and resulting in absent or aberrant…”
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Whole exome sequencing at the Institute of Myology in the context of the Myocapture project to identify novel genes of myopathies by Nelson, I, BenYaou, R, Nectoux, J, Masson, C, Leturq, F, Richard, P, Stojkovic, T, Behin, A, Laforêt, P, Allamand, V, Eymard, B, Bonne, G

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Loss-of-function mutation of TRIP4 causes a novel form of congenital muscle disease and reveals the transcription coactivator ASC-1 as a new regulator of skeletal myogenesis by Davignon, L, Chauveau, C, Julien, C, Dill, C, Duband-Goulet, I, Cabet, E, Buendia, B, Lilienbaum, A, Rendu, J, Minot, M, Guichet, A, Allamand, V, Vadrot, N, Fauré, J, Odent, S, Lazaro, L, Leroy, J, Marcorelles, P, Dubourg, O, Ferreiro, A

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Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern by Deconinck, N, Dion, E, Yaou, R. Ben, Ferreiro, A, Eymard, B, Briñas, L, Payan, C, Voit, T, Guicheney, P, Richard, P, Allamand, V, Bonne, G, Stojkovic, T

“…Abstract Bethlem myopathy and Ullrich congenital muscular dystrophy are part of the heterogeneous group of collagen VI-related muscle disorders. They are…”
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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue by Hicks, D., Lampe, A. K., Laval, S. H., Allamand, V., Jimenez-Mallebrera, C., Walter, M. C., Muntoni, F., Quijano-Roy, S., Richard, P., Straub, V., Lochmüller, H., Bushby, K. M. D.

“…Mutations in COL6A1, COL6A2 and COL6A3, the genes which encode the extra-cellular matrix component collagen VI, lead to Bethlem myopathy and Ullrich congenital…”
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P.1.7 Contiguous gene syndrome causing ColVI myopathy, dysmorphism, frontal atrophy and diaphragmatic hernia by Seferian, A.M, Vandenbrande, L, Allamand, V, de Becdelievre, A, Richard, P, Lyonnet, S, Malan, V, Servais, L

“…Collagen VI (Col6) deficiency results in a broad spectrum of clinical manifestations ranging from Ullrich Congenital Muscular Dystrophy (UCMD) to Bethlem…”
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P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency by Stojkovic, T, Nelson, I, Nectoux, J, Cossee, M, Allamand, V, Gartioux, C, Yaou, R. Ben, Ferreiro, A, Richard, P, Carlier, P.Y, Carlier, P, Dupont, S, Lehéricy, S, Eymard, B, Bonne, G

“…Mutations in the LAMA2 gene underlie a severe congenital type of muscular dystrophy (MDC1A). We report the clinical, histological and genotypic features of 2…”
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P.1.21 Congenital muscular dystrophy phenotype with excess of neuromuscular spindles in a 5-year old girl by Servais, L, Quijano-Roy, S, Seferian, A.M, Allamand, V, Baumann, C, Richard, P, Estournet, B, Carlier, R, Fardeau, M, Voit, T, Romero, N.B

“…We report on a 5-year-old girl who presents with an association between a congenital muscular dystrophy, and very peculiar abnormalities on muscle biopsy. The…”
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G.P.19 Collagen VI genes in zebrafish skeletal muscle: Implications for collagen VI-myopathies by Ramanoudjame, L, Rocancourt, C, Lainé, J, Lyphout, L, Gartioux, C, Schwartz, M.E, Cousin, X, Allamand, V

“…Abstract Collagen VI (COLVI) is a heterotrimeric protein, ubiquitously expressed in connective tissues. COLVI plays different roles such as maintenance of…”
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G.P.21 Proteomic analysis of cultured skin fibroblasts from UCMD patients reveals the involvement of two new cellular pathways by Deconinck, N, Mussche, S, De Paepe, B, Gartioux, C, Allamand, V, Richard, P, Smet, J, Devreese, B, Coster, R. Van

“…Abstract Ullrich congenital muscular dystrophy (UCMD) is a severe congenital dystrophy caused by collagen VI mutations and resulting in absent or aberrant…”
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G.P.214 by Hu, Y, Donkervoot, S, Stojkovic, T, Voermans, N, Foley, A.R, Leach, M, Dastgir, J, Bolduc, V, Cullup, T, Becdelièvre, A, Yang, L, Su, H, Meilleur, K, Schindler, A, Kamsteeg, E, Richard, P, Butterfield, R, Winder, T, Crawford, T, Weiss, R, Muntoni, F, Allamand, V, Bönnemann, C

“…Collagen VI-related dystrophies and myopathies (COL6-RD) are a highly variable group of disorders that form a phenotypic spectrum ranging from severe Ullrich…”
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Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon by Rederstorff, M, Allamand, V, Guicheney, P, Gartioux, C, Richard, P, Chaigne, D, Krol, A, Lescure, A

“…Premature termination of translation due to nonsense mutations is a frequent cause of inherited diseases. Therefore, many efforts were invested in the…”
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