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Year Number of Results
1995 1
1999 1
2002 1
2004 1
2005 1
2010 2
2011 4
2014 3
2016 1
2019 1
2022 3
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18 results

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Page 1
Spinocerebellar ataxia type 31: A clinical and radiological literature review.
Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L. Saucier J, et al. J Neurol Sci. 2023 Jan 15;444:120527. doi: 10.1016/j.jns.2022.120527. Epub 2022 Dec 16. J Neurol Sci. 2023. PMID: 36563608 Free article. Review.
Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (ADCA type 3). ...Although SCA31 is described as a slowly progressive pure cerebellar syndrome characterized by cerebellar …
Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar a …
Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31).
Ishikawa K, Nagai Y. Ishikawa K, et al. Neurotherapeutics. 2019 Oct;16(4):1106-1114. doi: 10.1007/s13311-019-00804-6. Neurotherapeutics. 2019. PMID: 31755042 Free PMC article. Review.
Spinocerebellar ataxia type 31 (SCA31) is one of the autosomal-dominant neurodegenerative disorders that shows progressive cerebellar ataxia as a cardinal symptom. ...
Spinocerebellar ataxia type 31 (SCA31) is one of the autosomal-dominant neurodegenerative disorders that shows p …
Spinocerebellar ataxia type 31 (SCA31).
Ishikawa K. Ishikawa K. J Hum Genet. 2023 Mar;68(3):153-156. doi: 10.1038/s10038-022-01091-4. Epub 2022 Nov 1. J Hum Genet. 2023. PMID: 36319738 Free PMC article. Review.
Spinocerebellar ataxia type 31 (SCA31) is one of the most common forms of autosomal-dominant cerebellar ataxia in Japan. ...
Spinocerebellar ataxia type 31 (SCA31) is one of the most common forms of autosomal-dominant cerebellar ataxi …
Genetic cerebellar ataxias.
Storey E. Storey E. Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192506 Review.
This review broadly covers the commoner genetic ataxias, concentrating on their clinical features. Over the last two decades there has been a potentially bewildering profusion of newly described genetic ataxias. ...The recessive ataxias are not named systemat …
This review broadly covers the commoner genetic ataxias, concentrating on their clinical features. Over the last two decades there ha …
[Spinocerebellar ataxia type 31].
Ishikawa K, Sato N, Niimi Y, Amino T, Mizusawa H. Ishikawa K, et al. Rinsho Shinkeigaku. 2010 Nov;50(11):985-7. doi: 10.5692/clinicalneurol.50.985. Rinsho Shinkeigaku. 2010. PMID: 21921537 Review. Japanese.
Spinocerebellar ataxia type 31 (SCA31) is a relatively common degenerative ataxia in Japan. ...
Spinocerebellar ataxia type 31 (SCA31) is a relatively common degenerative ataxia in Japan. ...
HSP27 and cell death in spinocerebellar ataxia type 3.
Hsieh M, Tsai HF, Chang WH. Hsieh M, et al. Cerebellum. 2005;4(1):31-6. doi: 10.1080/14734220410026248. Cerebellum. 2005. PMID: 15895556 Review.
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant spinocerebellar degeneration characterized by a wide range of clinical manifestations. In this review, we discuss the role(s) that heat shock protein 27 (HSP27) may play in the cell death pr …
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant spinocerebellar degeneration characterized by a wi …
Phenotype and management of neurologic intronic repeat disorders (NIRDs).
Finsterer J. Finsterer J. Rev Neurol (Paris). 2023 Mar;179(3):173-182. doi: 10.1016/j.neurol.2022.09.004. Epub 2022 Nov 10. Rev Neurol (Paris). 2023. PMID: 36371266 Review.
Repeat lengths vary considerably and can be stable or unstable during transmission to the next generation. The most well-known NIRDs are Friedreich ataxia, spinocerebellar ataxia types-10, -31, and -36, CANVAS, C9Orf72 familial amyotrophic lateral scle …
Repeat lengths vary considerably and can be stable or unstable during transmission to the next generation. The most well-known NIRDs are Fri …
Cellular toxicity of expanded RNA repeats: focus on RNA foci.
Wojciechowska M, Krzyzosiak WJ. Wojciechowska M, et al. Hum Mol Genet. 2011 Oct 1;20(19):3811-21. doi: 10.1093/hmg/ddr299. Epub 2011 Jul 4. Hum Mol Genet. 2011. PMID: 21729883 Free PMC article. Review.
Discrete and punctate nuclear RNA foci are characteristic molecular hallmarks of pathogenesis in myotonic dystrophy type 1 and type 2. Intranuclear RNA inclusions of distinct morphology have also been found in fragile X-associated tremor ataxia syndrome, Hunt …
Discrete and punctate nuclear RNA foci are characteristic molecular hallmarks of pathogenesis in myotonic dystrophy type 1 and typ …
CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders.
Wojciechowska M, Krzyzosiak WJ. Wojciechowska M, et al. RNA Biol. 2011 Jul-Aug;8(4):565-71. doi: 10.4161/rna.8.4.15397. Epub 2011 Jul 1. RNA Biol. 2011. PMID: 21593608 Free PMC article. Review.
Expansions of CTG, CGG and CAG repeats are linked to, respectively, myotonic dystrophy type 1 (DM1), fragile X-associated tremor/ataxia syndrome (FXTAS), as well as Huntington's disease (HD) and a number of spinocerebellar ataxias (SCAs). ...This mecha …
Expansions of CTG, CGG and CAG repeats are linked to, respectively, myotonic dystrophy type 1 (DM1), fragile X-associated tremor/a …
Calcium channels and channelopathies of the central nervous system.
Pietrobon D. Pietrobon D. Mol Neurobiol. 2002 Feb;25(1):31-50. doi: 10.1385/MN:25:1:031. Mol Neurobiol. 2002. PMID: 11890456 Review.
The human diseases comprise: 1) a recessive retinal disorder, X-linked congenital stationary night blindness, associated with mutations in the CACNA1F gene, encoding alpha(1)1.4 subunits of L-type channels; and 2) a group of rare allelic autosomal dominant human neurologic …
The human diseases comprise: 1) a recessive retinal disorder, X-linked congenital stationary night blindness, associated with mutations in t …
18 results