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Witting, N., Laforêt, P., Voermans, N. C., Roux‐Buisson, N., Bompaire, F., Rendu, J., Duno, M., Feillet, F., Kamsteeg, E.‐J., Poulsen, N. S., Dahlqvist, J. R., Romero, N. B., Fauré, J., Vissing, J., Behin, A.
Published in Acta neurologica Scandinavica (01.05.2018)
Published in Acta neurologica Scandinavica (01.05.2018)
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Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test
Roux-Buisson, N, Monnier, N, Sagui, E, Abriat, A, Brosset, C, Bendahan, D, Kozak-Ribbens, G, Gazzola, S, Quesada, J.-L., Foutrier-Morello, C, Rendu, J, Figarella-Branger, D, Cozonne, P, Aubert, M, Bourdon, L, Lunardi, J, Fauré, J
Published in British journal of anaesthesia : BJA (01.04.2016)
Published in British journal of anaesthesia : BJA (01.04.2016)
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Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB
Mollin, M., Beaumel, S., Vigne, B., Brault, J., Roux‐Buisson, N., Rendu, J., Barlogis, V., Catho, G., Dumeril, C., Fouyssac, F., Monnier, D., Gandemer, V., Revest, M., Brion, J.‐P., Bost‐Bru, C., Jeziorski, E., Eitenschenck, L., Jarrasse, C., Drillon Haus, S., Houachée‐Chardin, M., Hancart, M., Michel, G., Bertrand, Y., Plantaz, D., Kelecic, J., Traberg, R., Kainulainen, L., Fauré, J., Fieschi, F., Stasia, M. J.
Published in Clinical and experimental immunology (01.02.2021)
Published in Clinical and experimental immunology (01.02.2021)
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Corrigendum to “22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd–7th October 2017” [Neuromuscular Disorders 27S2 (2017) S51–S270]
Rendu, J., Bosson, C., Roux-Buisson, N., Chatagnon, A., Bankole, B., Rivier, F., Durigneux, J., Monges, S., Stojkovic, T., Romero, N., Marty, I., Fauré, J.
Published in Neuromuscular disorders : NMD (01.11.2017)
Published in Neuromuscular disorders : NMD (01.11.2017)
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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
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
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings
Malfatti, E, Monges, S, Lornage, X, Abath-Neto, O, Bohm, J, Joureau, B, De Winter, J, Rendu, J, Quijano-Roy, S, Brochier, G, Lubieniecki, F, Madelaine, A, Chanut, A, Estournet, B, Eymard, B, Ottenheijm, C, Taratuto, A, Laporte, J, Fardeau, M, Romero, N
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia
Zaharieva, I, Sarkozy, A, Manzur, A, Munot, P, O’Grady, G, Rendu, J, Amthor, H, Servais, L, Malfatti, E, Dixon, J, Poke, G, Donkervoort, S, Foley, A.R, Neto, O.L.A, Davis, M.R, Urtizberea, J.A, Bastaki, L, Romero, N.B, Oates, E.C, Holmes, C, Williams, G, Sframeli, M, Yum, S, Medne, L, Roy, S.Q, Fauré, J, Feng, L, Morgan, J.E, Bönnemann, C.G, Phadke, R, Sewry, C.A, Treves, S, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly
Coutton, C, Bidart, M, Rendu, J, Devillard, F, Vieville, G, Amblard, F, Lopez, G, Jouk, P-S, Satre, V
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
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P.4.10 Exon skipping as a therapeutic strategy applied to a RyR1 mutation causing severe core myopathy
Rendu, J, Brocard, J, Monnier, N, Piétri-Rouxel, F, Garcia, L, Lunardi, J, Fauré, J, Fourest-Lieuvin, A, Marty, I
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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487P 2024 update of the national French consensus on gene lists for the diagnosis of muscular diseases using high-throughput sequencing
Gorokhova, S., Pion, E., Cossée, M., Biancalana, V., Bourdain, C. Acquaviva, Bouchet-Seraphin, C., Fauré, J., Leturcq, F., Menassa, R., Metay, C., Michel-Calemard, L., Nectoux, J., Petit, F., Rendu, J., Richard, P., Sternberg, D., Vuillaumier-Barrot, S., Attarian, S., Krahn, M.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xavière, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Véronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Töpf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Böhm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Fauré, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, Bönnemann, Carsten G.
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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Ornithine Transcarbamylase – From Structure to Metabolism: An Update
Couchet, Morgane, Breuillard, Charlotte, Corne, Christelle, Rendu, John, Morio, Béatrice, Schlattner, Uwe, Moinard, Christophe
Published in Frontiers in physiology (01.10.2021)
Published in Frontiers in physiology (01.10.2021)
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Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
Tordjman, Mickael, Dabaj, Ivana, Laforet, Pascal, Felter, Adrien, Ferreiro, Ana, Biyoukar, Moustafa, Law-Ye, Bruno, Zanoteli, Edmar, Castiglioni, Claudia, Rendu, John, Beroud, Christophe, Chamouni, Alexandre, Richard, Pascale, Mompoint, Dominique, Quijano-Roy, Susana, Carlier, Robert-Yves
Published in European radiology (01.12.2018)
Published in European radiology (01.12.2018)
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MYASTHENIA & RELATED DISORDERS: P.31 Identification of new recessive mutations in synaptotagmin-2 responsible for severe and early presynaptic forms of congenital myasthenic syndrome
Bauché, S., Sureau, A., Sternberg, D., Rendu, J., Buon, C., Messéant, J., Boëx, M., Furling, D., Fauré, J., Latypova, X., Gelot, A. Bernabe, Mayer, M., Laffargue, F., Nougues, M., Fontaine, B., Eymard, B., Isapof, A., Strochlic, L.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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MYASTHENIA & RELATED DISORDERS
Bauché, S., Sureau, A., Sternberg, D., Rendu, J., Buon, C., Messéant, J., Boëx, M., Furling, D., Fauré, J., Latypova, X., Gelot, A. Bernabe, Mayer, M., Laffargue, F., Nougues, M., Fontaine, B., Eymard, B., Isapof, A., Strochlic, L.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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Variations in the TRPV1 gene are associated to exertional heat stroke
Bosson, Caroline, Rendu, John, Pelletier, Laurent, Abriat, Amandine, Chatagnon, Amandine, Brocard, Julie, Brocard, Jacques, Figarella-Branger, Dominique, Ducreux, Sylvie, van Coppenolle, Fabien, Sagui, Emmanuel, Marty, Isabelle, Roux-Buisson, Nathalie, Faure, Julien
Published in Journal of science and medicine in sport (01.11.2020)
Published in Journal of science and medicine in sport (01.11.2020)
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CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
Labasse, C., Brochier, G., Rendu, J., Bohm, J., Monges, S., Quijano-Roy, S., Amthor, H., Servais, L., Madelaine, A., Lacène, E., Bui, M., Coppens, S., Biancalana, V., Lubieniecki, F., Laing, N., Taratuto, A., Buj-Bello, A., Evangelista, T., Laporte, J., Romero, N.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.33 Severe forms of ACTA1-related nemaline myopathy: Reassessment of the morphological, clinical and molecular aspects
Labasse, C., Brochier, G., Rendu, J., Bohm, J., Monges, S., Quijano-Roy, S., Amthor, H., Servais, L., Madelaine, A., Lacène, E., Bui, M., Coppens, S., Biancalana, V., Lubieniecki, F., Laing, N., Taratuto, A., Buj-Bello, A., Evangelista, T., Laporte, J., Romero, N.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells
Montjean, Rodrick, Aoidi, Rifdat, Desbois, Pierrette, Rucci, Julien, Trichet, Michaël, Salomon, Rémi, Rendu, John, Fauré, Julien, Lunardi, Joël, Gacon, Gérard, Billuart, Pierre, Dorseuil, Olivier
Published in Human molecular genetics (15.02.2015)
Published in Human molecular genetics (15.02.2015)
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