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Items: 1 to 20 of 182

1.

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.

Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP.

Am J Hum Genet. 2004 Jul;75(1):3-16. Epub 2004 May 19.

2.

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F.

Arch Neurol. 2004 May;61(5):727-33.

PMID:
15148151
3.

Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.

Ikeda Y, Daughters RS, Ranum LP.

Cerebellum. 2008;7(2):150-8. doi: 10.1007/s12311-008-0010-7.

PMID:
18418692
4.

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy.

Cellini E, Nacmias B, Forleo P, Piacentini S, Guarnieri BM, Serio A, Calabrò A, Renzi D, Sorbi S.

Arch Neurol. 2001 Nov;58(11):1856-9.

PMID:
11708995
5.

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia.

Topisirovic I, Dragasevic N, Savic D, Ristic A, Keckarevic M, Keckarevic D, Culjkovic B, Petrovic I, Romac S, Kostic VS.

Clin Genet. 2002 Oct;62(4):321-4.

PMID:
12372061
6.

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles.

Martins S, Seixas AI, Magalhães P, Coutinho P, Sequeiros J, Silveira I.

Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):109-14.

PMID:
16184604
7.

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.

Moseley ML, Schut LJ, Bird TD, Koob MD, Day JW, Ranum LP.

Hum Mol Genet. 2000 Sep 1;9(14):2125-30.

8.

Spinocerebellar ataxia type 8: clinical features in a large family.

Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LP.

Neurology. 2000 Sep 12;55(5):649-57.

PMID:
10980728
9.

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles.

Silveira I, Alonso I, Guimarães L, Mendonça P, Santos C, Maciel P, Fidalgo De Matos JM, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J.

Am J Hum Genet. 2000 Mar;66(3):830-40.

10.

Molecular genetics of spinocerebellar ataxia type 8 (SCA8).

Mosemiller AK, Dalton JC, Day JW, Ranum LP.

Cytogenet Genome Res. 2003;100(1-4):175-83. Review.

PMID:
14526178
11.

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

Silveira I, Miranda C, Guimarães L, Moreira MC, Alonso I, Mendonça P, Ferro A, Pinto-Basto J, Coelho J, Ferreirinha F, Poirier J, Parreira E, Vale J, Januário C, Barbot C, Tuna A, Barros J, Koide R, Tsuji S, Holmes SE, Margolis RL, Jardim L, Pandolfo M, Coutinho P, Sequeiros J.

Arch Neurol. 2002 Apr;59(4):623-9.

PMID:
11939898
12.

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.

Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, Vierimaa O, Penttinen M, Savontaus ML.

Ann Neurol. 2000 Sep;48(3):354-61.

PMID:
10976642
13.

SCA8 repeat expansions in ataxia: a controversial association.

Sobrido MJ, Cholfin JA, Perlman S, Pulst SM, Geschwind DH.

Neurology. 2001 Oct 9;57(7):1310-2.

PMID:
11591855
14.

SCA8 in the Spanish population including one homozygous patient.

Tazón B, Badenas C, Jiménez L, Muñoz E, Milà M.

Clin Genet. 2002 Nov;62(5):404-9.

PMID:
12431257
15.

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.

Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L.

J Neurol. 2002 Jul;249(7):923-9.

PMID:
12140678
16.

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

Craig K, Takiyama Y, Soong BW, Jardim LB, Saraiva-Pereira ML, Lythgow K, Morino H, Maruyama H, Kawakami H, Chinnery PF.

Eur J Hum Genet. 2008 Jul;16(7):841-7. doi: 10.1038/ejhg.2008.20. Epub 2008 Feb 20.

17.

Long repeat tracts at SCA8 in major psychosis.

Vincent JB, Yuan QP, Schalling M, Adolfsson R, Azevedo MH, Macedo A, Bauer A, DallaTorre C, Medeiros HM, Pato MT, Pato CN, Bowen T, Guy CA, Owen MJ, O'Donovan MC, Paterson AD, Petronis A, Kennedy JL.

Am J Med Genet. 2000 Dec 4;96(6):873-6.

PMID:
11121201
18.

Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI.

Ikeda Y, Shizuka-Ikeda M, Watanabe M, Schmitt M, Okamoto K, Shoji M.

J Neurol Sci. 2000 Dec 15;182(1):76-9.

PMID:
11102643
19.

[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)].

Matsuura T.

Rinsho Shinkeigaku. 2008 Nov;48(11):823-5. Review. Japanese.

PMID:
19198092
20.

Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan.

Ikeda Y, Shizuka M, Watanabe M, Okamoto K, Shoji M.

Neurology. 2000 Feb 22;54(4):950-5.

PMID:
10690991
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