Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 232

1.

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.

Whaley NR, Fujioka S, Wszolek ZK.

Orphanet J Rare Dis. 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. Review.

PMID:
21619691
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
3.

The wide spectrum of spinocerebellar ataxias (SCAs).

Manto MU.

Cerebellum. 2005;4(1):2-6. Review.

PMID:
15895552
[PubMed - indexed for MEDLINE]
4.

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.

Fujioka S, Sundal C, Wszolek ZK.

Orphanet J Rare Dis. 2013 Jan 18;8:14. doi: 10.1186/1750-1172-8-14. Review.

PMID:
23331413
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

Chung MY, Lu YC, Cheng NC, Soong BW.

Brain. 2003 Jun;126(Pt 6):1293-9.

PMID:
12764052
[PubMed - indexed for MEDLINE]
Free Article
6.

Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.

Wang J, Shen L, Lei L, Xu Q, Zhou J, Liu Y, Guan W, Pan Q, Xia K, Tang B, Jiang H.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2011 Jun;36(6):482-9. doi: 10.3969/j.issn.1672-7347.2011.06.003.

PMID:
21743138
[PubMed - indexed for MEDLINE]
Free Article
7.

[Clinico-genetic study of type I spinocerebelllar ataxia].

Svetel M, Culjković B, Sternić N, Dragasević B, Stojković I, Romac S, Kostić VS.

Srp Arh Celok Lek. 1999 May-Jun;127(5-6):157-62. Serbian.

PMID:
10500422
[PubMed - indexed for MEDLINE]
8.

[Molecular genetic approach to spinocerebellar ataxias].

Ishikawa K, Ishiguro T, Takahashi M, Sato N, Amino T, Niimi Y, Mizusawa H.

Rinsho Shinkeigaku. 2009 Nov;49(11):907-9. Review. Japanese.

PMID:
20030245
[PubMed - indexed for MEDLINE]
9.

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.

Vale J, Bugalho P, Silveira I, Sequeiros J, Guimarães J, Coutinho P.

Eur J Neurol. 2010 Jan;17(1):124-8. doi: 10.1111/j.1468-1331.2009.02757.x. Epub 2009 Jul 29.

PMID:
19659750
[PubMed - indexed for MEDLINE]
10.

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O.

J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):67-73.

PMID:
9436730
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.

Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V.

Hum Genet. 1999 Jun;104(6):516-22. Erratum in: Hum Genet 1999 Oct;105(4):376.

PMID:
10453742
[PubMed - indexed for MEDLINE]
12.

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.

Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, Ouyang S, Xia J.

Arch Neurol. 2000 Apr;57(4):540-4.

PMID:
10768629
[PubMed - indexed for MEDLINE]
13.

Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6.

Watanabe H, Tanaka F, Matsumoto M, Doyu M, Ando T, Mitsuma T, Sobue G.

Clin Genet. 1998 Jan;53(1):13-9.

PMID:
9550356
[PubMed - indexed for MEDLINE]
14.

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

Giunti P, Sabbadini G, Sweeney MG, Davis MB, Veneziano L, Mantuano E, Federico A, Plasmati R, Frontali M, Wood NW.

Brain. 1998 Mar;121 ( Pt 3):459-67.

PMID:
9549522
[PubMed - indexed for MEDLINE]
Free Article
15.

[Autosomal dominant spinocerebellar ataxia].

Legros B, Manto MU.

Rev Med Brux. 1999 Dec;20(6):495-503. Review. French.

PMID:
10672773
[PubMed - indexed for MEDLINE]
16.

Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.

Pujana MA, Volpini V, Gratacós M, Corral J, Banchs I, Sánchez A, Genís D, Cervera C, Estivill X.

J Med Genet. 1998 Feb;35(2):99-102.

PMID:
9507387
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.

Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM.

Am J Hum Genet. 1997 Apr;60(4):842-50.

PMID:
9106530
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.

Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Júnior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA.

Neurology. 1996 Jan;46(1):214-8.

PMID:
8559378
[PubMed - indexed for MEDLINE]
19.

Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.

Jiang H, Tang BS, Xu B, Zhao GH, Shen L, Tang JG, Li QH, Xia K.

Chin Med J (Engl). 2005 May 20;118(10):837-43.

PMID:
15989765
[PubMed - indexed for MEDLINE]
20.

Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

Bürk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, Didierjean O, Brice A, Klockgether T.

Brain. 1996 Oct;119 ( Pt 5):1497-505.

PMID:
8931575
[PubMed - indexed for MEDLINE]
Free Article
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk