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Items: 1 to 20 of 153

1.

Early onset of ataxia in a child with a pathogenic SCA8 allele.

Felling RJ, Barron TF.

Pediatr Neurol. 2005 Aug;33(2):136-8. Review.

PMID:
16087061
2.

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
3.

Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats.

Ito H, Kawakami H, Wate R, Matsumoto S, Imai T, Hirano A, Kusaka H.

Neurology. 2006 Oct 24;67(8):1479-81.

PMID:
17060579
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.

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
6.

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.

7.

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
8.

[Spinocerebellar ataxia type 8(SCA 8)].

Izumi Y, Maruyama H, Kawakami H.

No To Shinkei. 2001 Jan;53(1):34-40. Review. Japanese. No abstract available.

PMID:
11211728
9.

SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.

Izumi Y, Maruyama H, Oda M, Morino H, Okada T, Ito H, Sasaki I, Tanaka H, Komure O, Udaka F, Nakamura S, Kawakami H.

Am J Hum Genet. 2003 Mar;72(3):704-9. Epub 2003 Jan 21.

10.

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
11.

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.

12.

Spinocerebellar ataxia type 2 in a Turkish family.

Dirik E, Yiş U, Başak N, Soydan E, Hüdaoğlu O, Ozgönül F.

J Child Neurol. 2007 Jul;22(7):891-4.

PMID:
17715286
13.

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
14.

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.

15.

Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.

Wu YR, Lin HY, Chen CM, Gwinn-Hardy K, Ro LS, Wang YC, Li SH, Hwang JC, Fang K, Hsieh-Li HM, Li ML, Tung LC, Su MT, Lu KT, Lee-Chen GJ.

Clin Genet. 2004 Mar;65(3):209-14.

PMID:
14756671
16.

Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12.

Srivastava AK, Choudhry S, Gopinath MS, Roy S, Tripathi M, Brahmachari SK, Jain S.

Ann Neurol. 2001 Dec;50(6):796-800.

PMID:
11761478
17.

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
18.

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
19.

Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia.

Cellini E, Forleo P, Nacmias B, Tedde A, Bagnoli S, Piacentini S, Sorbi S.

Ann Neurol. 2004 Jul;56(1):163; author reply 163-4. No abstract available.

PMID:
15236416
20.

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
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