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Results: 1-10 |
Results: 10
Both emerin and lamin C depend on lamin A for localization at the nuclear envelope
Authors: Vaughan, OA Alvarez-Reyes, M Bridger, JM Broers, JLV Ramaekers, FCS Wehnert, M Morris, GE Whitfield, WGF Hutchison, CJ
Citation: Oa. Vaughan et al., Both emerin and lamin C depend on lamin A for localization at the nuclear envelope, J CELL SCI, 114(14), 2001, pp. 2577-2590
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Authors: Bonne, G Mercuri, E Muchir, A Urtizberea, A Becane, HM Recan, D Merlini, L Wehnert, M Boor, R Reuner, U Vorgerd, M Wicklein, EM Eymard, B Duboc, D Penisson-Besnier, I Cuisset, JM Ferrer, X Desguerre, I Lacombe, D Bushby, K Pollitt, C Toniolo, D Fardeau, M Schwartz, K Muntoni, F
Citation: G. Bonne et al., Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, ANN NEUROL, 48(2), 2000, pp. 170-180
Cardiac responses to exercise in competitive child cyclists
Authors: Rowland, T Wehnert, M Miller, K
Citation: T. Rowland et al., Cardiac responses to exercise in competitive child cyclists, MED SCI SPT, 32(4), 2000, pp. 747-752
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25
Authors: Meuleman, J Kuhlenbaumer, G Schirmacher, A Wehnert, M De Jonghe, P De Vriendt, E Young, P Airaksinen, E Pou-Serradell, A Prats, JM Ringelstein, B Stogbauer, F Van Broeckhoven, C Timmerman, V
Citation: J. Meuleman et al., Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25, EUR J HUM G, 7(8), 1999, pp. 920-927
The Emery-Dreifuss Muscular Dystrophy Mutation Database
Authors: Yates, JRW Wehnert, M
Citation: Jrw. Yates et M. Wehnert, The Emery-Dreifuss Muscular Dystrophy Mutation Database, NEUROMUSC D, 9(3), 1999, pp. 199-199
Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein
Authors: Patzak, D Zhuchenko, O Lee, CC Wehnert, M
Citation: D. Patzak et al., Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein, HUM GENET, 105(5), 1999, pp. 506-512
Gene symbol: EMD disease: Emery-Dreifuss muscular dystrophy
Authors: Wehnert, M Talkop, A
Citation: M. Wehnert et A. Talkop, Gene symbol: EMD disease: Emery-Dreifuss muscular dystrophy, HUM GENET, 104(2), 1999, pp. 195-195
Genomic organization of the human complex I 13-kDa subunit gene NDUFA5
Authors: Tensing, K Pata, I Wittig, I Wehnert, M Metspalu, A
Citation: K. Tensing et al., Genomic organization of the human complex I 13-kDa subunit gene NDUFA5, CYTOG C GEN, 84(1-2), 1999, pp. 125-127
Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency
Authors: Willers, I Bolz, H Wehnert, M Gal, A
Citation: I. Willers et al., Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency, J INH MET D, 22(7), 1999, pp. 845
Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicingfactor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA)
Authors: Kuhlenbaeumer, G Meuleman, J Schirmacher, A Stoegbauer, F Ringelstein, EB Wehnert, M Hoeltzenbein, M Van Broeckhoven, C Timmerman, V
Citation: G. Kuhlenbaeumer et al., Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicingfactor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA), ANN HUM GEN, 62, 1998, pp. 397-400
Risultati: 1-10 |