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Items: 1 to 20 of 309

1.

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O.

Ann Neurol. 1997 Dec;42(6):924-32.

PMID:
9403486
2.

[CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia].

Tang B, Xia J, Wang D, Tang X, Shen L, Liu C, Dai H, Yan X, Pan Q, Xiao J, Zhang B, Ou Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Oct;16(5):281-4. Chinese.

PMID:
10514531
3.

Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3.

Klockgether T, Skalej M, Wedekind D, Luft AR, Welte D, Schulz JB, Abele M, Bürk K, Laccone F, Brice A, Dichgans J.

Brain. 1998 Sep;121 ( Pt 9):1687-93.

PMID:
9762957
4.

[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
5.

[Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes].

Chen P, Ma M, Shang H, Su D, Zhang S, Yang Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):626-33. doi: 10.3760/cma.j.issn.1003-9406.2009.06.005. Chinese.

PMID:
19953483
6.

Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.

Lee WY, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, Kim GM, Chung JS, Lee KH.

Arch Neurol. 2003 Jun;60(6):858-63. Erratum in: Arch Neurol. 2003 Sep;60(9):1256.

PMID:
12810491
7.

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.

8.

Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.

Schulz JB, Borkert J, Wolf S, Schmitz-Hübsch T, Rakowicz M, Mariotti C, Schöls L, Timmann D, van de Warrenburg B, Dürr A, Pandolfo M, Kang JS, Mandly AG, Nägele T, Grisoli M, Boguslawska R, Bauer P, Klockgether T, Hauser TK.

Neuroimage. 2010 Jan 1;49(1):158-68. doi: 10.1016/j.neuroimage.2009.07.027. Epub 2009 Jul 22. Erratum in: Neuroimage. 2010 May 1;50(4):1712. Schoels, Ludger [corrected to Schöls, Ludger].

PMID:
19631275
9.

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.

Pareyson D, Gellera C, Castellotti B, Antonelli A, Riggio MC, Mazzucchelli F, Girotti F, Pietrini V, Mariotti C, Di Donato S.

J Neurol. 1999 May;246(5):389-93.

PMID:
10399872
10.

CAG repeat expansions in patients with sporadic cerebellar ataxia.

Futamura N, Matsumura R, Fujimoto Y, Horikawa H, Suzumura A, Takayanagi T.

Acta Neurol Scand. 1998 Jul;98(1):55-9.

PMID:
9696528
11.

Genetic background of apparently idiopathic sporadic cerebellar ataxia.

Schöls L, Szymanski S, Peters S, Przuntek H, Epplen JT, Hardt C, Riess O.

Hum Genet. 2000 Aug;107(2):132-7.

PMID:
11030410
12.

Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.

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

J Neurol. 1999 Sep;246(9):789-97.

PMID:
10525976
13.

Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.

Sinke RJ, Ippel EF, Diepstraten CM, Beemer FA, Wokke JH, van Hilten BJ, Knoers NV, van Amstel HK, Kremer HP.

Arch Neurol. 2001 Nov;58(11):1839-44.

PMID:
11708993
14.

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
15.

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimarães J, Loureiro L, Sequeiros J, Rouleau GA.

Am J Med Genet. 1998 Mar 28;81(2):134-8.

PMID:
9613852
16.

The natural history of degenerative ataxia: a retrospective study in 466 patients.

Klockgether T, Lüdtke R, Kramer B, Abele M, Bürk K, Schöls L, Riess O, Laccone F, Boesch S, Lopes-Cendes I, Brice A, Inzelberg R, Zilber N, Dichgans J.

Brain. 1998 Apr;121 ( Pt 4):589-600.

PMID:
9577387
17.

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion.

Matsumura R, Futamura N, Fujimoto Y, Yanagimoto S, Horikawa H, Suzumura A, Takayanagi T.

Neurology. 1997 Nov;49(5):1238-43.

PMID:
9371900
18.

Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3.

Abele M, Bürk K, Andres F, Topka H, Laccone F, Bösch S, Brice A, Cancel G, Dichgans J, Klockgether T.

Brain. 1997 Dec;120 ( Pt 12):2141-8.

PMID:
9448569
19.

Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes.

Filla A, De Michele G, Campanella G, Perretti A, Santoro L, Serlenga L, Ragno M, Calabrese O, Castaldo I, De Joanna G, Cocozza S.

J Neurol Sci. 1996 Oct;142(1-2):140-7.

PMID:
8902734
20.

SCA2 trinucleotide expansion in German SCA patients.

Riess O, Laccone FA, Gispert S, Schöls L, Zühlke C, Vieira-Saecker AM, Herlt S, Wessel K, Epplen JT, Weber BH, Kreuz F, Chahrokh-Zadeh S, Meindl A, Lunkes A, Aguiar J, Macek M Jr, Krebsová A, Macek M Sr, Bürk K, Tinschert S, Schreyer I, Pulst SM, Auburger G.

Neurogenetics. 1997 May;1(1):59-64.

PMID:
10735276

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