Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
Daoud, Fatma, Angeard, Nathalie, Demerre, Bénédicte, Martie, Itxaso, Benyaou, Rabah, Leturcq, France, Cossée, Mireille, Deburgrave, Nathalie, Saillour, Yoann, Tuffery, Sylvie, Urtizberea, Andoni, Toutain, Annick, Echenne, Bernard, Frischman, Martine, Mayer, Michèle, Desguerre, Isabelle, Estournet, Brigitte, Réveillère, Christian, Penisson-Besnier, Cuisset, Jean Marie, Kaplan, Jean Claude, Héron, Delphine, Rivier, François, Chelly, Jamel
Published in Human molecular genetics (15.10.2009)
Published in Human molecular genetics (15.10.2009)
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Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study
Thauvin-Robinet, C, Cossée, M, Cormier-Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R, Faivre, L
Published in Journal of medical genetics (01.01.2006)
Published in Journal of medical genetics (01.01.2006)
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Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia
Chassaing, N., Bourthoumieu, S., Cossee, M., Calvas, P., Vincent, M.-C.
Published in Human mutation (01.03.2006)
Published in Human mutation (01.03.2006)
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Titin gene mutations presenting as centronuclear myophathies
Juntas Morales, R, Walther Louvier, U, Cances, C, Rigau, V, Rivier, F, Cossee, M, Zenagui, R, Peyroulan, D
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation
Zenagui, R, Lacourt, D, Juntas-Morales, R, Sole, G, Cances, C, River, F, Renard, D, Walther-Louvier, U, Ferrer-Monasterio, X, Espil, C, Arné-Bes, M, Cintas, P, Uro-Coste, E, Martin Negrier, M, Rigau, V, Bieth, E, Goizet, C, Claustres, M, Koenig, M, Cossee, M
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
Cossée, Mireille, Dürr, Alexandra, Schmitt, Michèle, Dahl, Niklas, Trouillas, Paul, Allinson, Patricia, Kostrzewa, Markus, Nivelon-Chevallier, Annie, Gustavson, Karl-Henrik, Kohlschütter, Alfried, Müller, Ulrich, Mandel, Jean-Louis, Brice, Alexis, Koenig, Michel, Cavalcanti, Francesca, Tammaro, Angela, De Michele, Giuseppe, Filla, Alessandro, Cocozza, Sergio, Labuda, Malgorzata, Montermini, Laura, Poirier, Josée, Pandolfo, Massimo
Published in Annals of neurology (01.02.1999)
Published in Annals of neurology (01.02.1999)
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P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency
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
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Dilated cardiomyopathy in patients with mutations in anoctamin 5
Wahbi, K, Béhin, A, Bécane, H.M, Leturcq, F, Cossée, M, Laforêt, P, Stojkovic, T, Carlier, P, Toussaint, M, Gaxotte, V, Cluzel, P, Eymard, B, Duboc, D
Published in International journal of cardiology (20.09.2013)
Published in International journal of cardiology (20.09.2013)
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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
COSSEE, M, PUCCIO, H, GANSMULLER, A, KOUTNIKOVA, H, DIERICH, A, LEMEUR, M, FISCHBECK, K, DOLLE, P, KOENIG, M
Published in Human molecular genetics (01.05.2000)
Published in Human molecular genetics (01.05.2000)
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Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia
Chassaing, N., Bourthoumieu, S., Cossee, M., Calvas, P., Vincent, M.-C.
Published in Human mutation (01.03.2006)
Published in Human mutation (01.03.2006)
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Novel CAPN3 variant associated with an autosomal dominant calpainopathy
Cerino, M., Campana‐Salort, E., Salvi, A., Cintas, P., Renard, D., Juntas Morales, R., Tard, C., Leturcq, F., Stojkovic, T., Bonello‐Palot, N., Gorokhova, S., Mortreux, J., Maues De Paula, A., Lévy, N., Pouget, J., Cossée, M., Bartoli, M., Krahn, M., Attarian, S.
Published in Neuropathology and applied neurobiology (01.10.2020)
Published in Neuropathology and applied neurobiology (01.10.2020)
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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
Liautard-Haag, C., Durif, G., VanGoethem, C., Baux, D., Louis, A., Cayrefourcq, L., Lamairia, M., Willems, M., Zordan, C., Dorian, V., Rooryck, C., Goizet, C., Chaussenot, A., Monteil, L., Calvas, P., Miry, C., Favre, R., Le Boette, E., Fradin, M., Roux, A. F., Cossée, M., Koenig, M., Alix-Panabière, C., Guissart, C., Vincent, M. C.
Published in Scientific reports (06.07.2022)
Published in Scientific reports (06.07.2022)
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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
Simon, Delphine, Hindelang, Colette, Koenig, Michel, Criqui-Filipe, Paola, Tiziano, Francesco, Melki, Judith, Puccio, Hélène, Rustin, Pierre, Cossée, Mireille, Matyas, Robert
Published in Nature genetics (01.02.2001)
Published in Nature genetics (01.02.2001)
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Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)
Oestergaard, S T, Stojkovic, T, Dahlqvist, J R, Bouchet-Seraphin, C, Nectoux, J, Leturcq, F, Cossée, M, Solé, G, Thomsen, C, Krag, T O, Vissing, J
Published in Neurology. Genetics (01.12.2016)
Published in Neurology. Genetics (01.12.2016)
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Frataxin fracas
Mandel, Jean-Louis, Moltè, Maria Dolores, Patel, Pragna I, Cañizares, Joaquin, Koutnikova, Hana, Cavalcanti, Francesca, Koenig, Michel, Frutos, Rosa De, Bidichandani, Sanjay I, Cossée, Mireille, Monticelli, Antonella, Pianese, Luigi, Pandolfo, Massimo, Montermini, Laura, Campuzano, Victoria, Fischbeck, Kurt, Cocozza, Sergio
Published in Nature genetics (01.04.1997)
Published in Nature genetics (01.04.1997)
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Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
Bouquet, F., Cossée, M., Béhin, A., Deburgrave, N., Romero, N., Leturcq, F., Eymard, B.
Published in Revue neurologique (01.02.2012)
Published in Revue neurologique (01.02.2012)
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Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis
Thauvin‐Robinet, C., Drunat, S., Saugier Veber, P., Chantereau, D., Cossée, M., Cassini, C., Soichot, P., Masurel‐Paulet, A., De Monléon, J.V., Sagot, P., Huet, F., Antin, M., Calmels, N., Faivre, L., Gérard, B.
Published in American journal of medical genetics. Part A (01.07.2012)
Published in American journal of medical genetics. Part A (01.07.2012)
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P168 The burden of titin variants on genetic counseling
Di Feo, M., Topf, A., Matalonga, L., Paramonov, I., Perrin, A., Johari, M., Cossee, M., Hackman, P., Savarese, M., Udd, B.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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A national French consensus on gene lists for NGS-based diagnosis of myopathies
Krahn, M., Biancalana, V., Michel-Calemard, L., Nectoux, J., Leturcq, F., Seraphin, C. Bouchet, Bourdain-Acquaviva, C., Froissart, R., Melki, J., Urtizberea, J., Molon, A., Campana-Salort, E., Pouget, J., Rendu, J., Petit, F., Metay, C., Seta, N., Sternberg, D., Faure, J., Cossée, M.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy
Echaniz-Laguna, A, Rousso, E, Anheim, M, Cossée, M, Tranchant, C
Published in Neurology (26.04.2005)
Published in Neurology (26.04.2005)
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