Literature DB >> 9328463

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders.

S E Andrew1, Y P Goldberg, M R Hayden.   

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Year:  1997        PMID: 9328463     DOI: 10.1093/hmg/6.12.2005

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


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  16 in total

Review 1.  Polyglutamine pathogenesis.

Authors:  C A Ross; J D Wood; G Schilling; M F Peters; F C Nucifora; J K Cooper; A H Sharp; R L Margolis; D R Borchelt
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1999-06-29       Impact factor: 6.237

Review 2.  Evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease in cell culture and in transgenic mice expressing mutant huntingtin.

Authors:  A S Hackam; J G Hodgson; R Singaraja; T Zhang; L Gan; C A Gutekunst; S M Hersch; M R Hayden
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1999-06-29       Impact factor: 6.237

3.  Increased T-type Ca2+ channel activity as a determinant of cellular toxicity in neuronal cell lines expressing polyglutamine-expanded human androgen receptors.

Authors:  A Sculptoreanu; H Abramovici; A A Abdullah; A Bibikova; V Panet-Raymond; D Frankel; H M Schipper; L Pinsky; M A Trifiro
Journal:  Mol Cell Biochem       Date:  2000-01       Impact factor: 3.396

4.  Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.

Authors:  M A Ramos-Arroyo; S Moreno; A Valiente
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-03       Impact factor: 10.154

5.  Influences of array size and homogeneity on minisatellite mutation.

Authors:  J Buard; A Bourdet; J Yardley; Y Dubrova; A J Jeffreys
Journal:  EMBO J       Date:  1998-06-15       Impact factor: 11.598

6.  Evaluation of CAG repeat length of androgen receptor expressing cells in human testes showing different pictures of spermatogenic impairment.

Authors:  Daniela Fietz; Joachim Geyer; Sabine Kliesch; Jörg Gromoll; Martin Bergmann
Journal:  Histochem Cell Biol       Date:  2011-10-25       Impact factor: 4.304

7.  Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

Authors:  D Falush; E W Almqvist; R R Brinkmann; Y Iwasa; M R Hayden
Journal:  Am J Hum Genet       Date:  2001-02       Impact factor: 11.025

8.  Counting CAG repeats in the Huntington's disease gene by restriction endonuclease EcoP15I cleavage.

Authors:  Elisabeth Möncke-Buchner; Stefanie Reich; Merlind Mücke; Monika Reuter; Walter Messer; Erich E Wanker; Detlev H Krüger
Journal:  Nucleic Acids Res       Date:  2002-08-15       Impact factor: 16.971

9.  The relationship between anogenital distance and the androgen receptor CAG repeat length.

Authors:  Michael L Eisenberg; Tung-Chin Hsieh; Alexander W Pastuszak; Matthew G McIntyre; Rustin C Walters; Dolores J Lamb; Larry I Lipshultz
Journal:  Asian J Androl       Date:  2013-01-21       Impact factor: 3.285

Review 10.  Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.

Authors:  Christine Zühlke; Katrin Bürk
Journal:  Cerebellum       Date:  2007-01-19       Impact factor: 3.847

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