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

Year Number of Results
1994 2
1996 2
1997 1
1998 1
1999 1
2000 1
2001 1
2002 1
2003 4
2004 1
2006 1
2007 1
2008 1
2010 1
2011 2
2012 3
2013 2
2014 4
2016 2
2018 2
2020 2
2021 2
2023 0

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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 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 …
14-3-3 proteins and spinocerebellar ataxia type 1: from molecular interaction to human neuropathology.
Umahara T, Uchihara T. Umahara T, et al. Cerebellum. 2010 Jun;9(2):183-9. doi: 10.1007/s12311-010-0158-9. Cerebellum. 2010. PMID: 20155408 Review.
This mini-review focuses on the possible relevance of 14-3-3 proteins in spinocerebellar ataxia type 1 (SCA1). 14-3-3 proteins are mainly localized in the synapses and neuronal cytoplasm, and seven isoforms have been identified in mammals. ...At …
This mini-review focuses on the possible relevance of 14-3-3 proteins in spinocerebellar ataxia type 1 (SCA1). …
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 …
The electrophysiological footprint of CACNA1A disorders.
Indelicato E, Unterberger I, Nachbauer W, Eigentler A, Amprosi M, Zeiner F, Haberlandt E, Kaml M, Gizewski E, Boesch S. Indelicato E, et al. J Neurol. 2021 Jul;268(7):2493-2505. doi: 10.1007/s00415-021-10415-x. Epub 2021 Feb 5. J Neurol. 2021. PMID: 33544220 Free PMC article. Review.
OBJECTIVES: CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). ...A review of the related literature was performed. RE …
OBJECTIVES: CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia …
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 …
Yeast 14-3-3 proteins.
van Heusden GP, Steensma HY. van Heusden GP, et al. Yeast. 2006 Feb;23(3):159-71. doi: 10.1002/yea.1338. Yeast. 2006. PMID: 16498703 Review.
The binding partners, and hence the 14-3-3 proteins, are involved in almost every cellular process and 14-3-3 proteins have been linked to several diseases, such as cancer, Alzheimer's disease, the neurological Miller-Dieker and spinocerebellar ataxia …
The binding partners, and hence the 14-3-3 proteins, are involved in almost every cellular process and 14-3-3 proteins have be …
Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders.
Egorova PA, Bezprozvanny IB. Egorova PA, et al. FEBS J. 2018 Oct;285(19):3547-3565. doi: 10.1111/febs.14366. Epub 2018 Jan 12. FEBS J. 2018. PMID: 29253316 Free article. Review.
Three IP(3) R subtypes have been identified in mammalian cells and the predominant isoform in neurons is IP(3) R type 1. Dysfunction of IP(3) R type 1 may play a role in the pathogenesis of certain neurodegenerative diseases as enhanced activity of the IP(3) R was o …
Three IP(3) R subtypes have been identified in mammalian cells and the predominant isoform in neurons is IP(3) R type 1. Dysfunction …
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.
Mantuano E, Veneziano L, Jodice C, Frontali M. Mantuano E, et al. Cytogenet Genome Res. 2003;100(1-4):147-53. doi: 10.1159/000072849. Cytogenet Genome Res. 2003. PMID: 14526175 Review.
Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q. SCA6 is associated with small expansions of a CAG repeat at the 3' end of the g …
Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for …
Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.
Shimobayashi E, Kapfhammer JP. Shimobayashi E, et al. Curr Neuropharmacol. 2018 Jan 30;16(2):151-159. doi: 10.2174/1570159X15666170529104000. Curr Neuropharmacol. 2018. PMID: 28554312 Free PMC article. Review.
BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of cerebellar diseases characterized by progressive ataxia and cerebellar atrophy. Several forms of SCAs are caused by missense mutations or deletions in genes related to calcium signaling in Purkinje cel …
BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of cerebellar diseases characterized by progressive ataxia and c …
35 results