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Items: 32

1.

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice.

Tomé S, Manley K, Simard JP, Clark GW, Slean MM, Swami M, Shelbourne PF, Tillier ER, Monckton DG, Messer A, Pearson CE.

PLoS Genet. 2013;9(2):e1003280. doi: 10.1371/journal.pgen.1003280. Epub 2013 Feb 28.

2.

Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage.

Kuhn A, Goldstein DR, Hodges A, Strand AD, Sengstag T, Kooperberg C, Becanovic K, Pouladi MA, Sathasivam K, Cha JH, Hannan AJ, Hayden MR, Leavitt BR, Dunnett SB, Ferrante RJ, Albin R, Shelbourne P, Delorenzi M, Augood SJ, Faull RL, Olson JM, Bates GP, Jones L, Luthi-Carter R.

Hum Mol Genet. 2007 Aug 1;16(15):1845-61. Epub 2007 May 21.

PMID:
17519223
3.

Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain.

Shelbourne PF, Keller-McGandy C, Bi WL, Yoon SR, Dubeau L, Veitch NJ, Vonsattel JP, Wexler NS; US-Venezuela Collaborative Research Group, Arnheim N, Augood SJ.

Hum Mol Genet. 2007 May 15;16(10):1133-42. Epub 2007 Apr 4.

PMID:
17409200
4.

Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease.

Veitch NJ, Ennis M, McAbney JP; US-Venezuela Collaborative Research Project, Shelbourne PF, Monckton DG.

DNA Repair (Amst). 2007 Jun 1;6(6):789-96. Epub 2007 Feb 12.

PMID:
17293170
5.

Normal electrical properties of hippocampal neurons modelling early Huntington disease pathogenesis.

Shelbourne P, Coote E, Dadak S, Cobb SR.

Brain Res. 2007 Mar 30;1139:226-34. Epub 2007 Jan 9.

PMID:
17291464
6.
7.

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis.

Kennedy L, Evans E, Chen CM, Craven L, Detloff PJ, Ennis M, Shelbourne PF.

Hum Mol Genet. 2003 Dec 15;12(24):3359-67. Epub 2003 Oct 21.

PMID:
14570710
8.
10.

Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity.

Li H, Li SH, Johnston H, Shelbourne PF, Li XJ.

Nat Genet. 2000 Aug;25(4):385-9.

PMID:
10932179
11.

Of mice and men: solving the molecular mysteries of Huntington's disease.

Shelbourne PF.

J Anat. 2000 May;196 ( Pt 4):617-28. Review.

12.

Impaired synaptic plasticity in mice carrying the Huntington's disease mutation.

Usdin MT, Shelbourne PF, Myers RM, Madison DV.

Hum Mol Genet. 1999 May;8(5):839-46.

PMID:
10196373
13.

A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice.

Shelbourne PF, Killeen N, Hevner RF, Johnston HM, Tecott L, Lewandoski M, Ennis M, Ramirez L, Li Z, Iannicola C, Littman DR, Myers RM.

Hum Mol Genet. 1999 May;8(5):763-74.

PMID:
10196365
14.

Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.

Meiner A, Wolf C, Carey N, Okitsu A, Johnson K, Shelbourne P, Kunath B, Sauermann W, Thiele H, Kupferling P, et al.

J Med Genet. 1995 Aug;32(8):645-9.

15.

Detection of a premutation in Japanese myotonic dystrophy.

Yamagata H, Miki T, Sakoda S, Yamanaka N, Davies J, Shelbourne P, Kubota R, Takenaga S, Nakagawa M, Ogihara T, et al.

Hum Mol Genet. 1994 May;3(5):819-20. No abstract available.

PMID:
8081369
16.

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

Lavedan C, Hofmann-Radvanyi H, Boileau C, Bonaïti-Pellié C, Savoy D, Shelbourne P, Duros C, Rabes JP, Dehaupas I, Luce S, et al.

J Med Genet. 1994 Jan;31(1):33-6.

17.

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes JP, Duros C, Savoy D, Dehaupas I, Luce S, Johnson K, Junien C.

Am J Hum Genet. 1993 May;52(5):875-83.

18.

The DM mutation; diagnostic applications in the Finnish population.

Nokelainen P, Shelbourne P, Shaw D, Brook JD, Harley HG, Johnson K, Somer H, Savontaus ML, Peltonen L.

Clin Genet. 1993 Apr;43(4):190-5.

PMID:
8101149
19.

Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.

Shelbourne P, Davies J, Buxton J, Anvret M, Blennow E, Bonduelle M, Schmedding E, Glass I, Lindenbaum R, Lane R, et al.

N Engl J Med. 1993 Feb 18;328(7):471-5.

20.

Isolation and ordering of bacteriophage genomic clones corresponding to two YACs from 19q13.3.

Buxton J, Davies J, Shelbourne P, Yokobata K, Williamson R, Johnson K.

Mol Cell Probes. 1993 Feb;7(1):75-80.

PMID:
8455645
21.

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

Melchionda S, Cobo A, Gennarelli M, Martorell L, Fattorini C, Baiget M, Lopez de Munain A, Johnson K, Shelbourne P, Novelli G, et al.

J Med Genet. 1992 Nov;29(11):789-90.

22.

Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.

Davies J, Yamagata H, Shelbourne P, Buxton J, Ogihara T, Nokelainen P, Nakagawa M, Williamson R, Johnson K, Miki T.

J Med Genet. 1992 Nov;29(11):766-9.

23.

[Molecular genetics diagnosis of Steinert's myotonic dystrophy].

Spiegel R, Einschenk I, Schinzel A, Shelbourne P, Johnson K, Boltshauser E, Schmid W.

Schweiz Med Wochenschr. 1992 Oct 17;122(42):1553-8. Review. German.

PMID:
1411415
24.

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K.

Hum Mol Genet. 1992 Oct;1(7):467-73.

PMID:
1307246
25.

Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19.

Buxton J, Shelbourne P, Davies J, Jones C, Perryman MB, Ashizawa T, Butler R, Brook D, Shaw D, de Jong P, et al.

Genomics. 1992 Jul;13(3):526-31.

PMID:
1639381
26.

Expansion of unstable DNA region in Japanese myotonic dystrophy patients.

Yamagata H, Miki T, Ogihara T, Nakagawa M, Higuchi I, Osame M, Shelbourne P, Davies J, Johnson K.

Lancet. 1992 Mar 14;339(8794):692. No abstract available.

PMID:
1347397
27.

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, et al.

Nature. 1992 Feb 6;355(6360):547-8.

PMID:
1346924
28.

Myotonic dystrophy: another case of too many repeats?

Shelbourne P, Johnson K.

Hum Mutat. 1992;1(3):183-9. Review.

PMID:
1301924
29.

D19S51 is closely linked with and maps distal to the myotonic dystrophy locus on 19q.

Tsilfidis C, MacKenzie AE, Shutler G, Leblond S, Bailly J, Johnson K, Williamson R, Siegel-Bartelt J, Korneluk RG, Shelbourne P.

Am J Hum Genet. 1991 Nov;49(5):961-5. Erratum in: Am J Hum Genet 1992 Mar;50(3):659.

30.

Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.

Lavedan C, Hofmann H, Shelbourne P, Duros C, Savoy D, Johnson K, Junien C.

J Med Genet. 1991 Feb;28(2):89-91.

31.

A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus.

Johnson K, Shelbourne P, Davies J, Buxton J, Nimmo E, Siciliano MJ, Bachinski LL, Anvret M, Harley H, Rundle S, et al.

Am J Hum Genet. 1990 Jun;46(6):1073-81.

32.

Recombination events that locate myotonic dystrophy distal to APOC2 on 19q.

Johnson K, Shelbourne P, Davies J, Buxton J, Nimmo E, Anvret M, Bonduelle M, Williamson B, Savontaus ML.

Genomics. 1989 Nov;5(4):746-51.

PMID:
2591962

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