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

Year Number of Results
2002 1
2003 2
2004 1
2007 2
2009 2
2010 1
2011 2
2012 2
2014 2
2017 2
2018 4
2019 2
2020 1
2022 2
2023 1
2024 0

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Page 1
Spinocerebellar Ataxia Type 17 (SCA17).
Toyoshima Y, Takahashi H. Toyoshima Y, et al. Adv Exp Med Biol. 2018;1049:219-231. doi: 10.1007/978-3-319-71779-1_10. Adv Exp Med Biol. 2018. PMID: 29427105 Review.
In 1999, a polyglutamine expansion was identified in the transcription factor TATA-binding protein (TBP) in a patient with ataxia with negative family history. Subsequently, CAG/CAA repeat expansions in the TBP gene were identified in families with spinocerebellar
In 1999, a polyglutamine expansion was identified in the transcription factor TATA-binding protein (TBP) in a patient with ataxia wit …
Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.
Karam A, Trottier Y. Karam A, et al. Adv Exp Med Biol. 2018;1049:197-218. doi: 10.1007/978-3-319-71779-1_9. Adv Exp Med Biol. 2018. PMID: 29427104 Review.
Spinocerebellar Ataxia type 7 (SCA7, OMIM # 164500) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia and blindness. SCA7 is part of the large family of autosomal dominant cerebellar at
Spinocerebellar Ataxia type 7 (SCA7, OMIM # 164500) is an autosomal dominant neurodegenerative disorder characterized b
Spinocerebellar ataxia type 10 - A review.
Teive HA, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T. Teive HA, et al. Parkinsonism Relat Disord. 2011 Nov;17(9):655-61. doi: 10.1016/j.parkreldis.2011.04.001. Epub 2011 Apr 29. Parkinsonism Relat Disord. 2011. PMID: 21531163 Review.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant inherited ataxia caused by an expanded ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene, on chromosome 22q13.3. ...In Mexico and Brazil SCA10 represents the second most common
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant inherited ataxia caused by an expanded ATTCT pen
Spinocerebellar ataxia type 5.
Dick KA, Ikeda Y, Day JW, Ranum LP. Dick KA, et al. Handb Clin Neurol. 2012;103:451-9. doi: 10.1016/B978-0-444-51892-7.00028-0. Handb Clin Neurol. 2012. PMID: 21827906 Review.
In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of spinocerebellar ataxia (Ranum et al., 1994). The mutation was mapped to the centromeric region of chromosome 11, and the disorder designated …
In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of spinocerebel
Autophagy and Polyglutamine Disease.
Ren H, Hao Z, Wang G. Ren H, et al. Adv Exp Med Biol. 2020;1207:149-161. doi: 10.1007/978-981-15-4272-5_9. Adv Exp Med Biol. 2020. PMID: 32671744 Review.
At least 9 kinds of polyglutamine diseases have been discovered, including Huntington disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), spinobulbar muscular atrophy (SBMA) and six spinocerebellar ataxia (SCA) such as SCA1, 2, 3, 6, 7 and 17 subtypes …
At least 9 kinds of polyglutamine diseases have been discovered, including Huntington disease (HD), dentatorubral pallidoluysian atrophy (DR …
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 …
The Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Koeppen AH. Koeppen AH. Adv Exp Med Biol. 2018;1049:233-241. doi: 10.1007/978-3-319-71779-1_11. Adv Exp Med Biol. 2018. PMID: 29427106 Review.
Spinocerebellar ataxia type 3 (SCA-3)/Machado-Joseph disease (MJD), the most common autosomal dominant ataxia, affects many regions of the brain and spinal cord. Similar to SCA-1, SCA-2, SCA-6, SCA-7, and SCA-17, the mutation consists of a patho
Spinocerebellar ataxia type 3 (SCA-3)/Machado-Joseph disease (MJD), the most common autosomal dominant ataxia, a
Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.
Zühlke C, Bürk K. Zühlke C, et al. Cerebellum. 2007;6(4):300-7. doi: 10.1080/14734220601136177. Epub 2007 Jan 19. Cerebellum. 2007. PMID: 17853080 Review.
The spinocerebellar ataxia type 17 (SCA17) is characterized by cerebellar ataxia, dementia, and involuntary movements, including chorea and dystonia. ...
The spinocerebellar ataxia type 17 (SCA17) is characterized by cerebellar ataxia, dementia, and involunta …
Molecular Mechanisms and Therapeutics for SCA17.
Liu Q, Pan Y, Li XJ, Li S. Liu Q, et al. Neurotherapeutics. 2019 Oct;16(4):1097-1105. doi: 10.1007/s13311-019-00762-z. Neurotherapeutics. 2019. PMID: 31317427 Free PMC article. Review.
Spinocerebellar ataxia type 17 (SCA17) is caused by polyglutamine (polyQ) expansion in the TATA box-binding protein (TBP), which functions as a general transcription factor. ...
Spinocerebellar ataxia type 17 (SCA17) is caused by polyglutamine (polyQ) expansion in the TATA box-binding prot
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL; Care4Rare Canada Consortium; Dudding-Byth T, Boycott KM. Zambonin JL, et al. Orphanet J Rare Dis. 2017 Jun 28;12(1):121. doi: 10.1186/s13023-017-0672-7. Orphanet J Rare Dis. 2017. PMID: 28659154 Free PMC article. Review.
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. ...Disease course was non-progressive with infantile- …
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia c …
26 results