A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease von GUILBOT, Angèle, WILLIAMS, Anna, MEGARBANE, André, CLAUSTRES, Mireille, RAVISE, Nicole, VERNY, Christophe, BRICE, Alexis, SHERMAN, Diane L, BROPHY, Peter J, LEGUERN, Eric, DELAGUE, Valérie, BAREIL, Corinne

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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations von AZZEDINE, H, RAVISE, N, HAMADOUCHE, T, BOUHOUCHE, A, GUILBOT, A, STENDEL, C, RUBERG, M, BRICE, A, BIROUK, N, DUBOURG, O, TAZIR, M, LEGUERN, E, VERNY, C, GABRËELS-FESTEN, A, LAMMENS, M, GRID, D, VALLAT, J. M, DUROSIER, G, SENDEREK, J, NOUIOUA, S

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Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family von VERNY, C, RAVISE, N, LEUTENEGGER, A-L, POUPLARD, F, DUBOURG, O, TARDIEU, S, DUBAS, F, BRICE, A, GENIN, E, LEGUERN, E

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Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33 von LeGuern, E., Guilbot, A., Kessali, M., Ravisé, N., Tassin, J., Maisonobe, T., Grid, D., Brice, A.

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Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions von LEBRE, Anne-Sophie, JAMOT, Laure, CAMONIS, Jacques H, BRICE, Alexis, TAKAHASHI, Junko, SPASSKY, Nathalie, LEPRINCE, Corinne, RAVISE, Nicole, ZANDER, Cécilia, FUJIGASAKI, Hiroto, KUSSEL-ANDERMANN, Polonka, DUYCKAERTS, Charles

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The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1 von Benomar, A., Krols, L., Stevanin, G., Cancel, G., LeGuern, E., David, G., Ouhabi, H., Martin, J.-J., Dürr, A., Zaim, A., Ravisé, N., Busque, C., Penet, C., Regemorter, N. Van, Weissenbach, J., Yahyaoui, M., Chkili, T., Agid, Y., Van Broeckhoven, C., Brice, A.

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Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination von LOPES, J, RAVISE, N, LATOUR, P, RUBERG, M, BRICE, A, LEGUERN, E, VANDENBERGHE, A, PALAU, F, IONASESCU, V, MAYER, M, LEVY, N, WOOD, N, TACHI, N, BOUCHE, P

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A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2? von LeGuern, Eric, Gouider, Riadh, Ravisé, Nicole, Lopes, Judith, Tardieu, Sandrine, Gugenheim, Michel, Abbas, Nacer, Bouche, Pierre, Agid, Yves, Brice, Alexis

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The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33 von Guilbot, A, Kessali, M, Ravisé, N, Hammadouche, T, Bouhouche, A, Maisonobe, T, Grid, D, Brice, A, LeGUERN, E

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The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33 von Guilbot, A, Kessali, M, Ravisé, N, Hammadouche, T, Bouhouche, A, Maisonobe, T, Grid, D, Brice, A, Leguern, E

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Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1 von Guilbot, Angèle, Ravisé, Nicole, Bouhouche, Ahmed, Coullin, Philippe, Birouk, Nazha, Maisonobe, Thierry, Kuntzer, Thierry, Vial, Christophe, Grid, Djamel, Brice, Alexis, LeGuern, Eric

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More precise localization of the gene for Hunter syndrome von Le Guern, E., Couillin, P., Oberlé, I., Ravise, N., Boue, J.

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A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter : evidence for the existence of a fourth locus von STEVANIN, G, LE GUERN, E, POTHIN, Y, LAGROUA, I, HAGUENAU, M, RANCUREL, G, WEISSENBACH, J, AGID, Y, BRICE, A, RAVISE, N, CHNEIWEISS, H, DÜRR, A, CANCEL, G, VIGNAL, A, BOCH, A.-L, RUBERG, M, PENET, C

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Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases von LeGuern, E., Gouider, R., Lopes, J., Abbas, N., Gugenheim, M., Tardieu, S., Ravisé, N., Léger, J.-M., Vallat, J.-M., Bouche, P., Agid, Y., Brice, A., the French CMT Collaborative Research Group

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Assignment of 112 Microsatellite Markers to 23 Chromosome 11 Subregions Delineated by Somatic Hybrids: Comparison with the Genetic Map von Couillin, Ph, Le Guern, E., Vignal, A., Fizames, C., Ravisé, N., Delportes, D., Reguigne, I., Rosier, M.F., Junien, C., Van Heyningen, V., Weissenbach, J.

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Simultaneous fluorescence in-situ hybridization (FISH) an R-banding by primed in-situ labelling (PRINS) von Coullin, P, Philippe, C, Ravise, N, Bernheim, A

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Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes von Raux-Demay, M., Mornet, E., Boue, J., Couillin, P., Oury, J. F., Ravise, N., Deluchat, C., Boue, A.

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Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a von BRICE, A, RAVISE, N, STEVANIN, G, GUGENHEIM, M, BOUCHE, P, PENET, C, AGID, Y

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The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33 von GUILBOT, A., KESSALI, M., RAVISÉ, N., HAMMADOUCHE, T., BOUHOUCHE, A., MAISONOBE, T., GRID, D., BRICE, A., LEGUERN, E.

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Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies von Ravisé, Nicole, Dubourg, Odile, Tardieu, Sandrine, Aurias, Françoise, Mercadiel, Monique, Coullin, Philippe, Ruberg, Merle, Catala, Martin, Lesourd, Sylvie, Brice, Alexis, LeGuern, Eric

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