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Results: 1 to 20 of 409

1.

Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.

Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T.

Neurology. 2008 Sep 23;71(13):982-9. doi: 10.1212/01.wnl.0000325057.33666.72. Epub 2008 Aug 6.

PMID:
18685131
[PubMed - indexed for MEDLINE]
2.

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.

Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Dürr A, Marelli C, Globas C, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Schmitz-Hübsch T, Fancellu R, Mariotti C, Tomasello C, Baliko L, Melegh B, Filla A, Rinaldi C, van de Warrenburg BP, Verstappen CC, Szymanski S, Berciano J, Infante J, Timmann D, Boesch S, Hering S, Depondt C, Pandolfo M, Kang JS, Ratzka S, Schulz J, Tezenas du Montcel S, Klockgether T.

Neurology. 2011 Sep 13;77(11):1035-41. doi: 10.1212/WNL.0b013e31822e7ca0. Epub 2011 Aug 10.

PMID:
21832228
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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]
4.

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
[PubMed - indexed for MEDLINE]
5.

Spinocerebellar ataxias types 1, 2 and 3: age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths.

Netravathi M, Pal PK, Purushottam M, Thennarasu K, Mukherjee M, Jain S.

J Neurol Sci. 2009 Feb 15;277(1-2):83-6. doi: 10.1016/j.jns.2008.10.016. Epub 2008 Dec 2.

PMID:
19049837
[PubMed - indexed for MEDLINE]
6.

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.

Jacobi H, Reetz K, du Montcel ST, Bauer P, Mariotti C, Nanetti L, Rakowicz M, Sulek A, Durr A, Charles P, Filla A, Antenora A, Schöls L, Schicks J, Infante J, Kang JS, Timmann D, Di Fabio R, Masciullo M, Baliko L, Melegh B, Boesch S, Bürk K, Peltz A, Schulz JB, Dufaure-Garé I, Klockgether T.

Lancet Neurol. 2013 Jul;12(7):650-8. doi: 10.1016/S1474-4422(13)70104-2. Epub 2013 May 22. Erratum in: Lancet Neurol. 2013 Jul;12(7):630.

PMID:
23707147
[PubMed - indexed for MEDLINE]
7.

Association between proton magnetic resonance spectroscopy measurements and CAG repeat number in patients with spinocerebellar ataxias 2, 3, or 6.

Wang PS, Chen HC, Wu HM, Lirng JF, Wu YT, Soong BW.

PLoS One. 2012;7(10):e47479. doi: 10.1371/journal.pone.0047479. Epub 2012 Oct 11.

PMID:
23094053
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India.

Basu P, Chattopadhyay B, Gangopadhaya PK, Mukherjee SC, Sinha KK, Das SK, Roychoudhury S, Majumder PP, Bhattacharyya NP.

Hum Genet. 2000 Jun;106(6):597-604.

PMID:
10942107
[PubMed - indexed for MEDLINE]
10.

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.

Storey E, du Sart D, Shaw JH, Lorentzos P, Kelly L, McKinley Gardner RJ, Forrest SM, Biros I, Nicholson GA.

Am J Med Genet. 2000 Dec 11;95(4):351-7.

PMID:
11186889
[PubMed - indexed for MEDLINE]
11.

Responsiveness of different rating instruments in spinocerebellar ataxia patients.

Schmitz-Hübsch T, Fimmers R, Rakowicz M, Rola R, Zdzienicka E, Fancellu R, Mariotti C, Linnemann C, Schöls L, Timmann D, Filla A, Salvatore E, Infante J, Giunti P, Labrum R, Kremer B, van de Warrenburg BP, Baliko L, Melegh B, Depondt C, Schulz J, du Montcel ST, Klockgether T.

Neurology. 2010 Feb 23;74(8):678-84. doi: 10.1212/WNL.0b013e3181d1a6c9.

PMID:
20177122
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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]
14.

Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.

van de Warrenburg BP, Hendriks H, Dürr A, van Zuijlen MC, Stevanin G, Camuzat A, Sinke RJ, Brice A, Kremer BP.

Ann Neurol. 2005 Apr;57(4):505-12.

PMID:
15747371
[PubMed - indexed for MEDLINE]
15.

[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
[PubMed - indexed for MEDLINE]
16.

[SCA1, SCA2, MJD/SCA3 (CAG)n mutation detection and analysis in patients with hereditary spinocerebellar ataxia from Chinese families].

Tang B, Wang D, Xia J.

Zhonghua Yi Xue Za Zhi. 1997 Nov;77(11):819-22. Chinese.

PMID:
9772474
[PubMed - indexed for MEDLINE]
17.

Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings.

Jacobi H, Hauser TK, Giunti P, Globas C, Bauer P, Schmitz-Hübsch T, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, Tezenas du Montcel S, Borkert J, Schulz JB, Klockgether T.

Cerebellum. 2012 Mar;11(1):155-66. doi: 10.1007/s12311-011-0292-z.

PMID:
21701895
[PubMed - indexed for MEDLINE]
18.

Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6.

Wüllner U, Reimold M, Abele M, Bürk K, Minnerop M, Dohmen BM, Machulla HJ, Bares R, Klockgether T.

Arch Neurol. 2005 Aug;62(8):1280-5.

PMID:
16087769
[PubMed - indexed for MEDLINE]
19.

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

Soong B W, Lu Y C, Choo K B, Lee H Y.

Arch Neurol. 2001 Jul;58(7):1105-9.

PMID:
11448300
[PubMed - indexed for MEDLINE]
20.

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.

Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH.

Orphanet J Rare Dis. 2013 Nov 13;8:177. doi: 10.1186/1750-1172-8-177.

PMID:
24225362
[PubMed - indexed for MEDLINE]
Free PMC Article
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