ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-33 |

Results: 26-33/33

Properties of polyglutamine expansion in vitro and in a cellular model forHuntington's disease

Authors: Lunkes, A Trottier, Y Fagart, J Schultz, P Zeder-Lutz, G Moras, D Mandel, JL

Citation: A. Lunkes et al., Properties of polyglutamine expansion in vitro and in a cellular model forHuntington's disease, PHI T ROY B, 354(1386), 1999, pp. 1013-1019

Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes

Authors: Cossee, M Durr, A Schmitt, M Dahl, N Trouillas, P Allinson, P Kostrzewa, M Nivelon-Chevallier, A Gustavson, KH Kohlschutter, A Muller, U Mandel, JL Brice, A Koenig, M Cavalcanti, F Tammaro, A De Michele, G Filla, A Cocozza, S Labuda, M Montermini, L Poirier, J Pandolfo, M

Citation: M. Cossee et al., Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes, ANN NEUROL, 45(2), 1999, pp. 200-206

Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP)

Authors: Broccardo, C Troffer-Charlier, N Savary, S Mandel, JL Chimini, G

Citation: C. Broccardo et al., Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP), EUR J HUM G, 6(6), 1998, pp. 638-641

Alternative splicing of FMR1 gene in fetal and adult human brain

Authors: Huang, T Li, LY Fan, Y Vicaire, S Pang, ZL Mandel, JL Wu, GY Shen, Y

Citation: T. Huang et al., Alternative splicing of FMR1 gene in fetal and adult human brain, PROG NAT SC, 8(6), 1998, pp. 700-705

Heterogeneous intracellular localization and expression of ataxin-3

Authors: Trottier, Y Cancel, G An-Gourfinkel, I Lutz, Y Weber, C Brice, A Hirsch, E Mandel, JL

Citation: Y. Trottier et al., Heterogeneous intracellular localization and expression of ataxin-3, NEUROBIOL D, 5(5), 1998, pp. 335-347

Novel isoforms of the fragile X related protein FXR1P are expressed duringmyogenesis

Authors: Khandjian, EW Bardoni, B Corbin, F Sittler, A Giroux, S Heitz, D Tremblay, S Pinset, C Montarras, D Rousseau, F Mandel, JL

Citation: Ew. Khandjian et al., Novel isoforms of the fragile X related protein FXR1P are expressed duringmyogenesis, HUM MOL GEN, 7(13), 1998, pp. 2121-2128

Physical, genetic and functional map of Xp22 - and application to identification of disease genes

Authors: Mandel, JL O'Riordan, JLH Rowe, P Lehrach, H Francis, F Camerino, G Petit, C Weil, D Houghton, J Farr, C

Citation: Jl. Mandel et al., Physical, genetic and functional map of Xp22 - and application to identification of disease genes, BIOM HLTH R, 23, 1998, pp. 182-185

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: Extensive allelic heterogeneity and a high rate of de novo mutations

Authors: Jacquot, S Merienne, K De Cesare, D Pannetier, S Mandel, JL Sassone-Corsi, P Hanauer, A

Citation: S. Jacquot et al., Mutation analysis of the RSK2 gene in Coffin-Lowry patients: Extensive allelic heterogeneity and a high rate of de novo mutations, AM J HU GEN, 63(6), 1998, pp. 1631-1640

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