Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Bécane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., Eymard, B., Duboc, D., Penisson-Besnier, I., Cuisset, J. M., Ferrer, X., Desguerre, I., Lacombe, D., Bushby, K., Pollitt, C., Toniolo, D., Fardeau, M., Schwartz, K., Muntoni, F.
Published in Annals of neurology (01.08.2000)
Published in Annals of neurology (01.08.2000)
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Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
Ben Yaou, R, Toutain, A, Arimura, T, Demay, L, Massart, C, Peccate, C, Muchir, A, Llense, S, Deburgrave, N, Leturcq, F, Litim, K E, Rahmoun-Chiali, N, Richard, P, Babuty, D, Récan-Budiartha, D, Bonne, G
Published in Neurology (29.05.2007)
Published in Neurology (29.05.2007)
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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
Muscatelli, Françoise, Strom, Tim M, Walker, Ann P, Zanaria, Elena, Récan, Dominique, Meindl, Alfons, Bardoni, Barbara, Guioli, Silvana, Zehetner, Günther, Rabl, Wolfgang, Peter Schwarz, Hans, Kaplan, Jean-Claude, Camerino, Giovanna, Meitinger, Thomas, Monaco, Anthony P
Published in Nature (London) (15.12.1994)
Published in Nature (London) (15.12.1994)
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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
Piccolo, F, Chaouch, M, Jeanpierre, M, Romero, N.B, Campbell, K.P, Voit, T, Kaplan, J-C, El Kerch, F, Collin, H, Roberds, S.L, Eymard, B, Fardeau, M, Leturcq, F, Beckmann, J.S, Sefiani, A, Tomé, F.M.S, Azibi, K, Récan, D, Reghis, A, Merlini, L, Beldjord, C, Carrié, A
Published in Nature genetics (01.06.1995)
Published in Nature genetics (01.06.1995)
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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
Muntoni, F., Bonne, G., Goldfarb, L. G., Mercuri, E., Piercy, R. J., Burke, M., Yaou, R. Ben, Richard, P., Récan, D., Shatunov, A., Sewry, C. A., Brown, S. C.
Published in Brain (London, England : 1878) (01.05.2006)
Published in Brain (London, England : 1878) (01.05.2006)
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Reliable detection of early myocardial dysfunction by tissue Doppler echocardiography in Becker muscular dystrophy
Meune, C, Pascal, O, Bécane, H M, Héloire, F, Christoforou, D, Laforet, P, Eymard, B, Gueret, P, Leturcq, F, Recan, D, Devaux, J Y, Weber, S, Duboc, D
Published in Heart (British Cardiac Society) (01.08.2004)
Published in Heart (British Cardiac Society) (01.08.2004)
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Mutations in Emery-Dreifuss Muscular Dystrophy and their Effects on Emerin Protein Expression
Manila, S., Recan, D., Sewry, C. A., Hoeltzenbein, M., Llense, S., Leturcq, F., Deburgrave, N., Barbot, J.-C., thi Man, Nguyen, Muntoni, F., Wehnert, M., Kaplan, J.-C., Morris, G. E.
Published in Human molecular genetics (01.05.1998)
Published in Human molecular genetics (01.05.1998)
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Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
Chelly, Jamel, Gilgenkrantz, Hélène, Lambert, Martine, Hamard, Ghislaine, Chafey, Philippe, Récan, Dominique, Katz, Pierre, Chapelle, Albert de la, Koenig, Michel, Ginjaar, Ieke B., Fardeau, Michel, Tome, Fernando, Kahn, Axel, Kaplan, Jean-Claude
Published in Cell (21.12.1990)
Published in Cell (21.12.1990)
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Illegitimate transcription : application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients
CHELLY, J, GILGENKRANTZ, H, HUGNOT, J. P, HAMARD, G, LAMBERT, M, RECAN, D, AKLI, S, COMETTO, M, KAHN, A, KAPLAN, J. C
Published in The Journal of clinical investigation (01.10.1991)
Published in The Journal of clinical investigation (01.10.1991)
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Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin
MATSUMURA, K, TOME, F. M. S, CAMPBELL, K. P, IONASESCU, V, ERVASTI, J. M, ANDERSON, R. D, ROMERO, N. B, SIMON, D, RECAN, D, KAPLAN, J.-C, FARDEAU, M
Published in The Journal of clinical investigation (01.08.1993)
Published in The Journal of clinical investigation (01.08.1993)
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Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation
Billuart, P., Vinet, M. C., des Portes, V., Llense, S., Richard, L., Moutard, M. L., Recan, D., Brüls, T., Bienvenu, T., Kahn, A., Beldjord, C., Chelly, J.
Published in Human molecular genetics (01.07.1996)
Published in Human molecular genetics (01.07.1996)
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Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations
Plassart, E, Reboul, J, Rime, C S, Recan, D, Millasseau, P, Eymard, B, Pelletier, J, Thomas, C, Chapon, F, Desnuelle, C
Published in European journal of human genetics : EJHG (1994)
Published in European journal of human genetics : EJHG (1994)
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Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization ?
RECAN, D, CHAFEY, P, FARDEAU, M, KAPLAN, J.-C, CHELLY, J, LETURCQ, F, HUGNOT, J.-P, VINCENT, N, TOME, F, COLLIN, H, SIMON, D, CZERNICHOW, P, NICHOLSON, L. V. B
Published in The Journal of clinical investigation (01.02.1992)
Published in The Journal of clinical investigation (01.02.1992)
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Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin
MATSUMURA, K, NONAKA, I, TOME, F. M. S, ARAHATA, K, COLLIN, H, LETURCQ, F, RECAN, D, KAPLAN, J.-C, FARDEAU, M, CAMPBELL, K. P
Published in American journal of human genetics (01.08.1993)
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Published in American journal of human genetics (01.08.1993)
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A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD)
HUGNOT, J. P, RECAN, D, JEANPIERRE, M, KAPLAN, J. C, TOLUN, A
Published in Nucleic acids research (11.06.1991)
Published in Nucleic acids research (11.06.1991)
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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
KOENIG, M, BEGGS, A. H, DE LA CHAPELLE, A, KIURU, A, SAVONTAUS, M.-L, GILGENKRANTZ, H, RECAN, D, CHELLY, J, KAPLAN, J.-C, COVONE, A. E, ARCHIDIACONO, N, ROMEO, G, MOYER, M, SCHERPF, S, HEINDRICH, K, BETTECKEN, T, MENG, G, MÜLLER, C. R, LINDÖF, M, KAARIAINEN, H
Published in American journal of human genetics (01.10.1989)
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Published in American journal of human genetics (01.10.1989)
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A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
Walker, A P, Chelly, J, Love, D R, Brush, Y I, Récan, D, Chaussain, J L, Oley, C A, Connor, J M, Yates, J, Price, D A
Published in Human molecular genetics (01.11.1992)
Published in Human molecular genetics (01.11.1992)
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A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
Tabarin, A, Achermann, J C, Recan, D, Bex, V, Bertagna, X, Christin-Maitre, S, Ito, M, Jameson, J L, Bouchard, P
Published in The Journal of clinical investigation (01.02.2000)
Published in The Journal of clinical investigation (01.02.2000)
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Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias
Lesca, G, Demarquay, G, Llense, S, Streichenberger, N, Petiot, P, Michel-Calemard, L, Récan, D, Vial, C, Ollagnon-Roman, E
Published in Revue neurologique (01.09.2003)
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Published in Revue neurologique (01.09.2003)
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