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Items: 1 to 20 of 91

1.

Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.

Kim JS, Son TO, Youn J, Ki CS, Cho JW.

J Clin Neurol. 2013 Oct;9(4):274-9. doi: 10.3988/jcn.2013.9.4.274. Epub 2013 Oct 31.

2.

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
3.

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
4.

Sporadic SCA8 mutation resembling corticobasal degeneration.

Baba Y, Uitti RJ, Farrer MJ, Wszolek ZK.

Parkinsonism Relat Disord. 2005 May;11(3):147-50.

PMID:
15823478
5.

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
6.

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
7.

SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.

Chen WL, Lin JW, Huang HJ, Wang SM, Su MT, Lee-Chen GJ, Chen CM, Hsieh-Li HM.

Brain Res. 2008 Oct 3;1233:176-84. doi: 10.1016/j.brainres.2008.07.096. Epub 2008 Aug 3.

PMID:
18708037
8.

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
9.

[A familial case of spinocerebellar ataxia type 8 (SCA 8)--its clinical findings and an issue about the genetic basis].

Hokezu Y, Takiyama Y, Sakoe K, Nagamatsu K.

Rinsho Shinkeigaku. 2000 Nov;40(11):1116-21. Japanese.

PMID:
11332193
10.

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
11.

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.

12.

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
13.

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
14.

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

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

Nat Genet. 1999 Apr;21(4):379-84.

PMID:
10192387
15.

Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects.

Hu Y, Hashimoto Y, Ishii T, Rayle M, Soga K, Sato N, Okita M, Higashi M, Ozaki K, Mizusawa H, Ishikawa K, Yokota T.

J Neurol Sci. 2017 Nov 15;382:87-90. doi: 10.1016/j.jns.2017.08.3256. Epub 2017 Aug 31.

PMID:
29111027
16.

Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.

Choubtum L, Witoonpanich P, Hanchaiphiboolkul S, Bhidayasiri R, Jitkritsadakul O, Pongpakdee S, Wetchaphanphesat S, Boonkongchuen P, Pulkes T.

BMC Neurol. 2015 Sep 15;15:166. doi: 10.1186/s12883-015-0425-y.

17.

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
18.

[A case of juvenile parkinsonism with expanded SCA8 CTA/CTG repeats].

Miyawaki T, Sekiguchi K, Yasui N, Ueda T, Kanda F, Toda T.

Rinsho Shinkeigaku. 2013;53(4):278-82. Japanese.

PMID:
23603541
19.

An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus.

Vincent JB, Neves-Pereira ML, Paterson AD, Yamamoto E, Parikh SV, Macciardi F, Gurling HM, Potkin SG, Pato CN, Macedo A, Kovacs M, Davies M, Lieberman JA, Meltzer HY, Petronis A, Kennedy JL.

Am J Hum Genet. 2000 Mar;66(3):819-29.

20.

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.

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