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

Year Number of Results
1993 1
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2003 2
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2007 1
2008 1
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2010 3
2011 4
2012 7
2014 1
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Page 1
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 11.
Giunti P, Houlden H, Gardner-Thorpe C, Worth PF, Johnson J, Hilton DA, Revesz T, Davis MB, Wood NW. Giunti P, et al. Handb Clin Neurol. 2012;103:521-34. doi: 10.1016/B978-0-444-51892-7.00033-4. Handb Clin Neurol. 2012. PMID: 21827911 Review. No abstract available.
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 desi …
In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of spinocerebel
Spinocerebellar ataxia type 20.
Storey E, Gardner RJ. Storey E, et al. Handb Clin Neurol. 2012;103:567-73. doi: 10.1016/B978-0-444-51892-7.00038-3. Handb Clin Neurol. 2012. PMID: 21827916 Review.
Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly progressive dominantly inherited disorder so far reported in a single Anglo-Celtic family from Australia. ...In addition to ataxia, examination often reveals spasmodic dysphoni
Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly progressive dominantly inherited disorder s
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
Felício D, Santos M. Felício D, et al. Cerebellum. 2024 Apr;23(2):678-687. doi: 10.1007/s12311-023-01540-6. Epub 2023 Mar 9. Cerebellum. 2024. PMID: 36892783 Free PMC article. Review.
Spinocerebellar ataxia type 11 (SCA11) is a rare type of autosomal dominant cerebellar ataxia, mainly characterized by progressive cerebellar ataxia, abnormal eye signs and dysarthria. ...
Spinocerebellar ataxia type 11 (SCA11) is a rare type of autosomal dominant cerebellar ataxia, mai
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). ...
OBJECTIVES: CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia
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 …
Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.
Bürk K, Zühlke C, König IR, Ziegler A, Schwinger E, Globas C, Dichgans J, Hellenbroich Y. Bürk K, et al. Neurology. 2004 Jan 27;62(2):327-9. doi: 10.1212/01.wnl.0000103293.63340.c1. Neurology. 2004. PMID: 14745083 Review.
The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5 (SCA5) locus (multipoint lod score 5.76). ...
The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia
Toward understanding Machado-Joseph disease.
Costa Mdo C, Paulson HL. Costa Mdo C, et al. Prog Neurobiol. 2012 May;97(2):239-57. doi: 10.1016/j.pneurobio.2011.11.006. Epub 2011 Nov 23. Prog Neurobiol. 2012. PMID: 22133674 Free PMC article. Review.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is the most common inherited spinocerebellar ataxia and one of many polyglutamine neurodegenerative diseases. ...
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is the most common inherited spino
[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. ...
43 results