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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 3
1998 1
1999 1
2000 1
2001 3
2002 1
2003 2
2004 1
2005 1
2006 2
2007 2
2008 1
2009 1
2010 1
2011 4
2012 3
2013 1
2014 6
2016 1
2017 1
2018 3
2019 2
2021 1
2022 3
2023 5
2024 0

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48 results

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Page 1
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (A …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia …
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). ...This review revealed that the average age of onset was 59.1 3.3 years, with symptoms of slowly progressing a …
Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias …
Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy.
Matos CA, de Almeida LP, Nóbrega C. Matos CA, et al. J Neurochem. 2019 Jan;148(1):8-28. doi: 10.1111/jnc.14541. Epub 2018 Oct 5. J Neurochem. 2019. PMID: 29959858 Free article. Review.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely regarded as the most common form of spinocerebellar ataxia in the world. ...
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely rega …
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. ...After searching the entire founder region of a 2-megabase (Mb), we finally identified a 2.5 to 3.8 kb-long complex penta- …
Spinocerebellar ataxia type 31 (SCA31) is one of the most common forms of autosomal-dominant cerebellar ataxia i …
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. This disease is caused by a 2.5- to 3.8-kb-long complex pentanucleotide repeat co …
Spinocerebellar ataxia type 31 (SCA31) is one of the autosomal-dominant neurodegenerative disorders that shows progress …
Therapeutic Strategies for Spinocerebellar Ataxia Type 1.
Kerkhof LMC, van de Warrenburg BPC, van Roon-Mom WMC, Buijsen RAM. Kerkhof LMC, et al. Biomolecules. 2023 May 2;13(5):788. doi: 10.3390/biom13050788. Biomolecules. 2023. PMID: 37238658 Free PMC article. Review.
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that affects one or two individuals per 100,000. The disease is caused by an extended CAG repeat in exon 8 of the ATXN1 gene and is characterized mostly by a profo …
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that affects one or two indivi …
Autophagy in Spinocerebellar Ataxia Type 3: From Pathogenesis to Therapeutics.
Paulino R, Nóbrega C. Paulino R, et al. Int J Mol Sci. 2023 Apr 17;24(8):7405. doi: 10.3390/ijms24087405. Int J Mol Sci. 2023. PMID: 37108570 Free PMC article. Review.
Machado-Joseph disease (MJD) or spinocerebellar ataxia 3 (SCA3) is a rare, inherited, monogenic, neurodegenerative disease, and the most common SCA worldwide. ...MJD/SCA3 patients display several signals and symptoms in which the most prominent is ataxia. Neu …
Machado-Joseph disease (MJD) or spinocerebellar ataxia 3 (SCA3) is a rare, inherited, monogenic, neurodegenerative disease, an …
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.
Fujioka S, Sundal C, Wszolek ZK. Fujioka S, et al. Orphanet J Rare Dis. 2013 Jan 18;8:14. doi: 10.1186/1750-1172-8-14. Orphanet J Rare Dis. 2013. PMID: 23331413 Free PMC article. Review.
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and trem …
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classicall …
Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
Mutsuddi M, Rebay I. Mutsuddi M, et al. RNA Biol. 2005 Apr;2(2):49-52. doi: 10.4161/rna.2.2.1682. Epub 2005 Apr 25. RNA Biol. 2005. PMID: 17132942 Review.
Spinocerebellar ataxias (SCAs) belong to a group of autosomal dominant, late-onset neurodegenerative disorders characterized by slowly progressive ataxia that eventually leads to severe gait, speech, coordination and sensory loss. ...
Spinocerebellar ataxias (SCAs) belong to a group of autosomal dominant, late-onset neurodegenerative disorders characterized b …
Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
Mosemiller AK, Dalton JC, Day JW, Ranum LP. Mosemiller AK, et al. Cytogenet Genome Res. 2003;100(1-4):175-83. doi: 10.1159/000072852. Cytogenet Genome Res. 2003. PMID: 14526178 Review.
We previously reported that a transcribed but untranslated CTG expansion causes a novel form of ataxia, spinocerebellar ataxia type 8 (SCA8) (Koob et al., 1999). SCA8 was the first example of a dominant spinocerebellar ataxia that …
We previously reported that a transcribed but untranslated CTG expansion causes a novel form of ataxia, spinocerebellar ata …
48 results