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Items: 1 to 20 of 137

1.

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.

2.

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T.

Lancet Neurol. 2015 Nov;14(11):1101-8. doi: 10.1016/S1474-4422(15)00202-1. Epub 2015 Sep 13.

PMID:
26377379
3.

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
4.
5.

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
6.

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.

7.

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
8.

Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy.

Lirng JF, Wang PS, Chen HC, Soong BW, Guo WY, Wu HM, Chang CY.

PLoS One. 2012;7(10):e47925. doi: 10.1371/journal.pone.0047925. Epub 2012 Oct 31.

9.

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.

10.

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
11.

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
12.

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
13.
14.
15.

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
16.

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia.

Koutsis G, Pemble S, Sweeney MG, Paudel R, Wood NW, Panas M, Kladi A, Houlden H.

J Neurol Sci. 2012 Jul 15;318(1-2):178-80. doi: 10.1016/j.jns.2012.03.019. Epub 2012 Apr 18.

17.

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
18.

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
19.

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan.

Tsai HF, Liu CS, Leu TM, Wen FC, Lin SJ, Liu CC, Yang DK, Li C, Hsieh M.

Acta Neurol Scand. 2004 May;109(5):355-60.

PMID:
15080863
20.

Clinical analysis of adult-onset spinocerebellar ataxias in Thailand.

Boonkongchuen P, Pongpakdee S, Jindahra P, Papsing C, Peerapatmongkol P, Wetchaphanphesat S, Paiboonpol S, Dejthevaporn C, Tanprawate S, Nudsasarn A, Jariengprasert C, Muntham D, Ingsathit A, Pulkes T.

BMC Neurol. 2014 Apr 5;14:75. doi: 10.1186/1471-2377-14-75.

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