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Page 1
Ca(2+) signaling and spinocerebellar ataxia.
Hisatsune C, Hamada K, Mikoshiba K. Hisatsune C, et al. Biochim Biophys Acta Mol Cell Res. 2018 Nov;1865(11 Pt B):1733-1744. doi: 10.1016/j.bbamcr.2018.05.009. Epub 2018 May 16. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29777722 Free article. Review.
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. ...
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily
Spinocerebellar ataxia type 15.
Storey E, Gardner RJ. Storey E, et al. Handb Clin Neurol. 2012;103:561-5. doi: 10.1016/B978-0-444-51892-7.00037-1. Handb Clin Neurol. 2012. PMID: 21827915 Review.
Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly inherited ataxia. ...
Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly in
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 is not …
We previously reported that a transcribed but untranslated CTG expansion causes a novel form of ataxia, spinocerebellar ata
Modeling simple repeat expansion diseases with iPSC technology.
Jaworska E, Kozlowska E, Switonski PM, Krzyzosiak WJ. Jaworska E, et al. Cell Mol Life Sci. 2016 Nov;73(21):4085-100. doi: 10.1007/s00018-016-2284-0. Epub 2016 Jun 3. Cell Mol Life Sci. 2016. PMID: 27261369 Free PMC article. Review.
A number of human genetic disorders, including Huntington's disease, myotonic dystrophy type 1, C9ORF72 form of amyotrophic lateral sclerosis and several spinocerebellar ataxias, are caused by the expansion of various microsatellite sequences in single implic …
A number of human genetic disorders, including Huntington's disease, myotonic dystrophy type 1, C9ORF72 form of amyotrophic lateral s …
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
Pellerin D, Danzi MC, Renaud M, Houlden H, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Clin Transl Med. 2024 Jan;14(1):e1504. doi: 10.1002/ctm2.1504. Clin Transl Med. 2024. PMID: 38279833 Free PMC article. Review.
Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. ...Over the past few years, the implementation of advanced bioinformatics tools and long-read sequen …
Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their gr …
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
Tada M, Nishizawa M, Onodera O. Tada M, et al. Neurochem Int. 2016 Mar;94:1-8. doi: 10.1016/j.neuint.2016.01.007. Epub 2016 Jan 28. Neurochem Int. 2016. PMID: 26827887 Review.
Inositol 1,4,5-trisphosphate (IP3) receptors (IP3Rs), which act as calcium release channels in the ER membrane, play a key role in the regulation of intracellular calcium concentration. IP3R type 1 (IP3R1) is the major neuronal IP3R isoform in the central nervous system an …
Inositol 1,4,5-trisphosphate (IP3) receptors (IP3Rs), which act as calcium release channels in the ER membrane, play a key role in the regul …
Why is SCA12 different from other SCAs?
Holmes SE, O'Hearn E, Margolis RL. Holmes SE, et al. Cytogenet Genome Res. 2003;100(1-4):189-97. doi: 10.1159/000072854. Cytogenet Genome Res. 2003. PMID: 14526180 Review.
Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. ...
Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique amon
Spinocerebellar ataxia type 14.
Chen DH, Raskind WH, Bird TD. Chen DH, et al. Handb Clin Neurol. 2012;103:555-9. doi: 10.1016/B978-0-444-51892-7.00036-X. Handb Clin Neurol. 2012. PMID: 21827914 Review.
SCA14 is an autosomal dominant hereditary cerebellar ataxia that usually has an onset in early to mid adult life, with slow progression and normal lifespan. Although generally an uncomplicated cerebellar ataxia with gait imbalance, dysarthria, and nystagmus, there i …
SCA14 is an autosomal dominant hereditary cerebellar ataxia that usually has an onset in early to mid adult life, with slow progressi …
Polyglutamines placed into context.
La Spada AR, Taylor JP. La Spada AR, et al. Neuron. 2003 Jun 5;38(5):681-4. doi: 10.1016/s0896-6273(03)00328-3. Neuron. 2003. PMID: 12797953 Free article. Review.
Nine inherited neurodegenerative disorders result from polyglutamine expansions. Two recently published papers on spinocerebellar ataxia type 1, together with studies on spinobulbar muscular atrophy last year, indicate that host protein context is the key arb …
Nine inherited neurodegenerative disorders result from polyglutamine expansions. Two recently published papers on spinocerebellar
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
45 results