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Items: 1 to 20 of 44

1.

The electrophysiology of spinocerebellar ataxias.

Liang L, Chen T, Wu Y.

Neurophysiol Clin. 2016 Feb;46(1):27-34. doi: 10.1016/j.neucli.2015.12.006. Review.

PMID:
26947625
2.

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.

Paradisi I, Ikonomu V, Arias S.

J Hum Genet. 2016 Mar;61(3):215-22. doi: 10.1038/jhg.2015.131.

PMID:
26538302
3.

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.

Ramos A, Raposo M, Milà M, Bettencourt C, Houlden H, Cisneros B, Magaña JJ, Bettencourt BF, Bruges-Armas J, Santos C, Lima M.

J Mol Neurosci. 2016 Jan;58(1):83-7. doi: 10.1007/s12031-015-0646-y.

PMID:
26454745
4.

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.

PMID:
26377379
5.

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.

6.

Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study.

Brouillette AM, Öz G, Gomez CM.

Dis Markers. 2015;2015:413098. doi: 10.1155/2015/413098.

7.

Central auditory processing in patients with spinocerebellar ataxia.

Zeigelboim BS, de Carvalho HA, Teive HA, Liberalesso PB, Jurkiewicz AL, da Silva Abdulmassih EM, Marques JM, Cordeiro ML.

Hear Res. 2015 Sep;327:235-44. doi: 10.1016/j.heares.2015.07.006.

PMID:
26183435
8.

Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity.

Mark MD, Krause M, Boele HJ, Kruse W, Pollok S, Kuner T, Dalkara D, Koekkoek S, De Zeeuw CI, Herlitze S.

J Neurosci. 2015 Jun 10;35(23):8882-95. doi: 10.1523/JNEUROSCI.0891-15.2015. Erratum in: J Neurosci. 2015 Sep 9;35(36):12606-7.

9.

Decreased metabotropic glutamate receptor type 1 availability in a patient with spinocerebellar ataxia type 6: A (11)C-ITMM PET study.

Ishibashi K, Miura Y, Ishikawa K, Ishii K, Ishiwata K.

J Neurol Sci. 2015 Aug 15;355(1-2):202-5. doi: 10.1016/j.jns.2015.05.041.

PMID:
26055313
10.

Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6.

Linnemann C, Tezenas du Montcel S, Rakowicz M, Schmitz-Hübsch T, Szymanski S, Berciano J, van de Warrenburg BP, Pedersen K, Depondt C, Rola R, Klockgether T, García A, Mutlu G, Schöls L.

Cerebellum. 2016 Apr;15(2):165-73. doi: 10.1007/s12311-015-0684-6.

PMID:
26054379
11.

Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model.

Aikawa T, Mogushi K, Iijima-Tsutsui K, Ishikawa K, Sakurai M, Tanaka H, Mizusawa H, Watase K.

Hum Mol Genet. 2015 Sep 1;24(17):4780-91. doi: 10.1093/hmg/ddv202.

12.

Clinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31.

Ohmori H, Hara A, Ishikawa K, Mizusawa H, Ando Y.

J Neurogenet. 2015;29(2-3):80-4. doi: 10.3109/01677063.2015.1054992.

PMID:
26004545
13.

DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.

Tsou WL, Hosking RR, Burr AA, Sutton JR, Ouyang M, Du X, Gomez CM, Todi SV.

Hum Mol Genet. 2015 Aug 1;24(15):4385-96. doi: 10.1093/hmg/ddv174.

14.

Sensorimotor processing for balance in spinocerebellar ataxia type 6.

Bunn LM, Marsden JF, Voyce DC, Giunti P, Day BL.

Mov Disord. 2015 Aug;30(9):1259-66. doi: 10.1002/mds.26227.

15.

Parkinsonism in spinocerebellar ataxia.

Park H, Kim HJ, Jeon BS.

Biomed Res Int. 2015;2015:125273. doi: 10.1155/2015/125273. Review.

16.

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia.

Stefanescu MR, Dohnalek M, Maderwald S, Thürling M, Minnerop M, Beck A, Schlamann M, Diedrichsen J, Ladd ME, Timmann D.

Brain. 2015 May;138(Pt 5):1182-97. doi: 10.1093/brain/awv064.

PMID:
25818870
17.
18.

Genetic testing for spinocerebellar ataxias in patients diagnosed as Parkinson's disease in Bangladesh.

Rahman MS, Sarkar MA, Rahman MF, Paul SK, Nagai SY, Uddin MJ, Toda T.

Mymensingh Med J. 2015 Jan;24(1):44-51.

PMID:
25725667
19.

Rare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31.

Yabe I, Matsushima M, Yoshida K, Ishikawa K, Shirai S, Takahashi I, Sasaki H.

J Neurol Sci. 2015 Mar 15;350(1-2):90-2. doi: 10.1016/j.jns.2014.12.042.

PMID:
25684342
20.

Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12.

Dong Y, Wu JJ, Wu ZY.

Parkinsonism Relat Disord. 2015 Apr;21(4):398-401. doi: 10.1016/j.parkreldis.2015.01.006.

PMID:
25634432
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