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Items: 1 to 20 of 38

1.
2.

[Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease].

Jia D, Jiang H, Tang B.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Dec;25(6):660-2. Review. Chinese.

PMID:
19065526
3.

Machado-Joseph disease/spinocerebellar ataxia type 3.

Paulson H.

Handb Clin Neurol. 2012;103:437-49. doi: 10.1016/B978-0-444-51892-7.00027-9. Review.

4.

Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).

Dürr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y.

Clin Neurosci. 1995;3(1):12-6. Review.

PMID:
7614088
5.

Hereditary ataxias.

Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S.

Mayo Clin Proc. 2000 May;75(5):475-90. Review.

PMID:
10807077
6.

Cell biology of spinocerebellar ataxia.

Orr HT.

J Cell Biol. 2012 Apr 16;197(2):167-77. doi: 10.1083/jcb.201105092. Review.

7.

Machado-Joseph disease and other rare spinocerebellar ataxias.

Matilla-Dueñas A.

Adv Exp Med Biol. 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. Review.

PMID:
22411243
8.

Progress in pathogenesis studies of spinocerebellar ataxia type 1.

Cummings CJ, Orr HT, Zoghbi HY.

Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1079-81. Review.

9.

[Spinocerebellar ataxia: advances in genetic research and its clinical implication].

Sasaki H.

Hokkaido Igaku Zasshi. 1997 Jan;72(1):13-20. Review. Japanese.

PMID:
9086358
10.

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.

11.

[A case of Machado-Joseph disease presenting pure cerebellar ataxia].

Ogawa K, Suzuki Y, Oishi M, Mizutani T, Nakayama T.

Rinsho Shinkeigaku. 2001 Aug;41(8):512-4. Review. Japanese.

PMID:
11889837
12.

Molecular genetics of hereditary ataxias.

Banfi S, Zoghbi HY.

Baillieres Clin Neurol. 1994 Aug;3(2):281-95. Review.

PMID:
7952848
13.

Caring for Machado-Joseph disease: current understanding and how to help patients.

D'Abreu A, França MC Jr, Paulson HL, Lopes-Cendes I.

Parkinsonism Relat Disord. 2010 Jan;16(1):2-7. doi: 10.1016/j.parkreldis.2009.08.012. Review.

14.

[New insights in the molecular genetics and pathophysiology of hereditary ataxias].

Bürk K, Klockgether T, Dichgans J.

Nervenarzt. 1999 Jun;70(6):491-5. Review. German.

PMID:
10412692
15.
16.

Toward therapeutic targets for SCA3: Insight into the role of Machado-Joseph disease protein ataxin-3 in misfolded proteins clearance.

Li X, Liu H, Fischhaber PL, Tang TS.

Prog Neurobiol. 2015 Sep;132:34-58. doi: 10.1016/j.pneurobio.2015.06.004. Review.

PMID:
26123252
17.

Machado-Joseph Disease: from first descriptions to new perspectives.

Bettencourt C, Lima M.

Orphanet J Rare Dis. 2011 Jun 2;6:35. doi: 10.1186/1750-1172-6-35. Review.

18.

CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci.

Frontali M, Novelletto A, Annesi G, Jodice C.

Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1089-94. Review.

19.

Homozygous Machado Joseph Disease: a case report and review of literature.

Lysenko L, Grewal RP, Ma W, Peddareddygari LR.

Can J Neurol Sci. 2010 Jul;37(4):521-3. Review. No abstract available.

PMID:
20724264
20.

Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.

Bettencourt C, Quintáns B, Ros R, Ampuero I, Yáñez Z, Pascual SI, de Yébenes JG, Sobrido MJ.

Hum Mutat. 2012 Sep;33(9):1315-23. doi: 10.1002/humu.22148. Review.

PMID:
22753388

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