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Results: 1-11 |
Results: 11
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
Authors: Liquori, CL Ricker, K Moseley, ML Jacobsen, JF Kress, W Naylor, SL Day, JW Ranum, LPW
Citation: Cl. Liquori et al., Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9, SCIENCE, 293(5531), 2001, pp. 864-867
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia - Reply
Authors: Moseley, ML Schut, LJ Bird, TD Day, JW Ranum, LPW
Citation: Ml. Moseley et al., Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia - Reply, NAT GENET, 24(3), 2000, pp. 215-215
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance
Authors: Moseley, ML Schut, MJ Bird, TD Koob, MD Day, JW Ranum, LPW
Citation: Ml. Moseley et al., SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance, HUM MOL GEN, 9(14), 2000, pp. 2125-2130
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
Authors: Hayes, S Turecki, G Brisebois, K Lopes-Cendes, I Gaspar, C Riess, O Ranum, LPW Pulst, SM Rouleau, GA
Citation: S. Hayes et al., CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2), HUM MOL GEN, 9(12), 2000, pp. 1753-1758
Spinocerebellar ataxia type 8 - Clinical features in a large family
Authors: Day, JW Schut, LJ Moseley, ML Durand, AC Ranum, LPW
Citation: Jw. Day et al., Spinocerebellar ataxia type 8 - Clinical features in a large family, NEUROLOGY, 55(5), 2000, pp. 649-657
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1)
Authors: Gonzalez, I Ohsawa, N Singer, RH Devillers, M Ashizawa, T Balasubramanyam, A Cooper, TA Khajavi, M Lia-Baldini, AS Miller, G Philips, AV Timchenko, LT Waring, J Yamagata, H Barbet, JP Klesert, TR Tapscott, SJ Roses, AD Wagner, M Baiget, M Martorell, L Browne, GB Eymard, B Gourdon, G Junien, C Seznec, H Carey, N Gosling, M Maire, P Gennarelli, M Sato, S Ansved, T Kvist, U Eriksson, M Furling, D Chen, EJ Housman, DE Luciano, B Siciliano, M Spring, N Shimizu, M Eddy, E Morris, GE Krahe, R Furuya, H Adelman, J Pribnow, D Furutama, D Mathieu, J Hilton-Jones, D Kinoshita, M Abbruzzese, C Sinden, RR Wells, RD Pearson, CE Kobayashi, T Johansson, A Salvatori, S Perryman, B Swanson, MS Gould, FK Harris, SE Johnson, K Mitchell, AM Monckton, DG Winchester, CL Antonini, G Day, JW Liquori, C Ranum, LPW Westerlaken, J Wieringa, B Griffith, JD Michalowski, S Moore, H Hamshere, M Korade, Z Thornton, CA Jaeger, H Lehmann, F Moorman, JR Mounsey, JP Mahadevan, MS
Citation: I. Gonzalez et al., New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1), NEUROLOGY, 54(6), 2000, pp. 1218-1221
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Authors: Koob, MD Moseley, ML Schut, LJ Benzow, KA Bird, TD Day, JW Ranum, LPW
Citation: Md. Koob et al., An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8), NAT GENET, 21(4), 1999, pp. 379-384
Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7
Authors: Kaytor, MD Duvick, LA Skinner, PJ Koob, MD Ranum, LPW Orr, HT
Citation: Md. Kaytor et al., Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7, HUM MOL GEN, 8(9), 1999, pp. 1657-1664
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
Authors: Day, JW Roelofs, R Leroy, B Pech, I Benzow, K Ranum, LPW
Citation: Jw. Day et al., Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2), NEUROMUSC D, 9(1), 1999, pp. 19-27
A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis
Authors: Ohshima, K Sakamoto, N Labuda, M Poirier, J Moseley, ML Montermini, L Ranum, LPW Wells, RD Pandolfo, M
Citation: K. Ohshima et al., A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis, NEUROLOGY, 53(8), 1999, pp. 1854-1857
Incidence of dominant spinocerebellar and Friedreich triplet repeats among361 ataxia families
Authors: Moseley, ML Benzow, KA Schut, LJ Bird, TD Gomez, CM Barkhaus, PE Blindauer, KA Labuda, M Pandolfo, M Koob, MD Ranum, LPW
Citation: Ml. Moseley et al., Incidence of dominant spinocerebellar and Friedreich triplet repeats among361 ataxia families, NEUROLOGY, 51(6), 1998, pp. 1666-1671
Risultati: 1-11 |