De novo expansion of a (CAG)n repeat in sporadic Huntington's disease (English)
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In:
Nature Genetics
;
5
, 2
;
168-173
;
1993
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ISSN:
- Article (Journal) / Electronic Resource
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Title:De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
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Contributors:Myers, R. H. ( author ) / MacDonald, M. E. ( author ) / Koroshetz, W. J. ( author ) / Duyao, M. P. ( author ) / Ambrose, C. M. ( author ) / Taylor, S. A. M. ( author ) / Barnes, G. ( author ) / Srinidhi, J. ( author ) / Lin, C. S. ( author ) / Whaley, W. L. ( author )
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Published in:Nature Genetics ; 5, 2 ; 168-173
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Publisher:
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Publication date:1993-10-01
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Size:6 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 5, Issue 2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 101
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Breast cancer on the brink| 1993
- 103
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All in the (cancer) familyKnudson, Alfred G. et al. | 1993
- 105
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The leukodystrophies: a window to myelinAubourg, Patrick et al. | 1993
- 107
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Homozygosity mapping: familiarity breeds debilityFarrall, Martin et al. | 1993
- 109
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Male breast cancer and the androgen receptor geneLobaccaro, Jean-Marc / Lumbroso, Serge / Belon, Charles / Galtier-Dereure, Florence / Bringer, Jacques / Lesimple, Thierry / Heron, Jean-François / Pujol, Henri / Sultan, Charles et al. | 1993
- 111
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The rapid detection of unknown mutations in nucleic acidsGrompe, Markus et al. | 1993
- 118
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Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan diseaseKaul, Rajinder / Ping Gao, Guang / Balamurugan, Kuppareddi / Matalon, Reuben et al. | 1993
- 124
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Screening patients for heterozygous p53 mutations using a functional assay in yeastIshioka, Chikashi / Frebourg, Thierry / Yan, Yu-Xin / Vidal, Marc / Friend, Stephen H. / Schmidt, Susanne / Iggo, Richard et al. | 1993
- 130
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Long–term correction of mouse dystrophic degeneration by adenovirus–mediated transfer of a minidystrophin geneVincent, Nathalie / Ragot, Thierry / Gilgenkrantz, Hélè / Couton, Dominique / Chafey, Philippe / Grégoire, Anne / Briand, Pascale / Kaplan, Jean-Claude / Kahn, Axel / Perricaudet, Michel et al. | 1993
- 135
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Non–invasive liposome–mediated gene delivery can correct the ion transport defect in cystic fibrosis mutant miceAlton, E. W. F. W. / Middleton, P. G. / Caplen, N. J. / Smith, S. N. / Steel, D. M. / Munkonge, F. M. / Jeffery, P. K. / Geddes, D. M. / Hart, S. L. / Williamson, R. et al. | 1993
- 143
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Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndromeWeksberg, Rosanna / Ren Shen, Ding / Ling Fei, Yan / Li Song, Qian / Squire, Jeremy et al. | 1993
- 151
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A novel metalloprotease/disintegrin–like gene at 17q21.3 is somatically rearranged in two primary breast cancersEmi, Mitsuru / Katagiri, Toyomasa / Harada, Yousuke / Saito, Hiroko / Inazawa, Johji / Ito, Isao / Kasumi, Fujio / Nakamura, Yusuke et al. | 1993
- 158
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Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genesRogaev, Evgeny I. / Rogaeva, Ekaterina A. / Ginter, Eugene K. / Korovaitseva, Galina I. / Farrer, Lindsay A. / Shlensky, Alexander B. / Pritkov, Alexander N. / Mordovtsev, Vladimir N. / St George-Hyslop, Peter H. et al. | 1993
- 163
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Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14qHazan, Jamilé / Lamy, Catherine / Melki, Judith / Munnich, Arnold / de Recondo, Jean / Weissenbach, Jean et al. | 1993
- 168
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De novo expansion of a (CAG)n repeat in sporadic Huntington's diseaseMyers, R. H. / MacDonald, M. E. / Koroshetz, W. J. / Duyao, M. P. / Ambrose, C. M. / Taylor, S. A. M. / Barnes, G. / Srinidhi, J. / Lin, C. S. / Whaley, W. L. et al. | 1993
- 174
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Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effectsGoldberg, Y. Paul / Kremer, Berry / Andrew, Susan E. / Theilmann, Jane / Graham, Rona K. / Squitieri, Ferdinando / Telenius, Håkan / Adam, Shelin / Sajoo, Anaar / Starr, Elizabeth et al. | 1993
- 180
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A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathyChen, Z-Y. / Battinelli, E.M. / Fielder, A. / Bundey, S. / Sims, K. / Breakefield, X.O. / Craig, I.W. et al. | 1993
- 184
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Reduced transcriptional regulatory competence of the androgen receptor in X–linked spinal and bulbar muscular atrophyMhatre, Anand N. / Trifiro, Mark A. / Kaufman, Morris / Kazemi-Esfarjani, Parsa / Figlewicz, Denise / Rouleau, Guy / Pinsky, Leonard et al. | 1993
- 189
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Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1ARoa, Benjamin B. / Garcia, Carlos A. / Pentao, Liu / Killian, James M. / Trask, Barbara J. / Suter, Ueli / Snipes, G. Jackson / Ortiz-Lopez, Rocio / Shooter, Eric M. / Patel, Pragna I. et al. | 1993
- 195
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Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mappingBen Hamida, C. / Doerflinger, N. / Belal, S. / Linder, C. / Reutenauer, L. / Dib, C. / Gyapay, G. / Vignal, A. / Le Paslier, D. / Cohen, D. et al. | 1993
- 201
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Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2Pollak, Martin R. / Wu Chou, Yah-Huei / Cerda, James J. / Steinmann, Beat / La Du, Bert N. / Seidman, J. G. / Seidman, Christine E. et al. | 1993