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Spinocerebellar ataxia type 23 (SCA23): a review.
Wu F, Wang X, Li X, Teng H, Tian T, Bai J. Wu F, et al. J Neurol. 2021 Dec;268(12):4630-4645. doi: 10.1007/s00415-020-10297-5. Epub 2020 Nov 11. J Neurol. 2021. PMID: 33175256 Review.
Gait, progressive ataxia, dysarthria, and eye movement disorder are common symptoms of spinocerebellar ataxias. ...Different subtypes of SCAs present various clinical features. Spinocerebellar ataxia type 23 (SCA23), one subtype of …
Gait, progressive ataxia, dysarthria, and eye movement disorder are common symptoms of spinocerebellar ataxias. ...Diff …
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
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Nishide M, Le Marquand K, Davis MR, Halmágyi GM, Fellner A, Narayanan RK, Kennerson ML, Reddel SW, Worgan L, Panegyres PK, Kumar KR. Nishide M, et al. Cerebellum. 2024 Feb;23(1):268-277. doi: 10.1007/s12311-023-01522-8. Epub 2023 Jan 25. Cerebellum. 2024. PMID: 36696030 Free PMC article. Review.
Autosomal dominant variants in ELOVL4 cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here, we report a large Italian-Maltese-Australian family with spinocerebellar
Autosomal dominant variants in ELOVL4 cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated …
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 type 1 …
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 s …
Cone rod dystrophies.
Hamel CP. Hamel CP. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. Orphanet J Rare Dis. 2007. PMID: 17270046 Free PMC article. Review.
CRDs are most frequently non syndromic, but they may also be part of several syndromes, such as Bardet Biedl syndrome and Spinocerebellar Ataxia Type 7 (SCA7). Non syndromic CRDs are genetically heterogeneous (ten cloned genes and three loci have been identif …
CRDs are most frequently non syndromic, but they may also be part of several syndromes, such as Bardet Biedl syndrome and Spinocerebellar
Proteolytic Cleavage of Polyglutamine Disease-Causing Proteins: Revisiting the Toxic Fragment Hypothesis.
Matos CA, Almeida LP, Nobrega C. Matos CA, et al. Curr Pharm Des. 2017;23(5):753-775. doi: 10.2174/1381612822666161227121912. Curr Pharm Des. 2017. PMID: 28025946 Review.
This review aims at discussing the involvement of proteolytic cleavage in the six types of spinocerebellar ataxia caused by polyglutamine expansion of proteins. ...Current evidence suggests that the proteins involved in spinocerebellar ataxia types 3, …
This review aims at discussing the involvement of proteolytic cleavage in the six types of spinocerebellar ataxia caused by po …
[The pathology of hereditary ovarian tumors].
Pesce F, Devouassoux-Shisheboran M. Pesce F, et al. Ann Pathol. 2020 Apr;40(2):85-94. doi: 10.1016/j.annpat.2020.02.015. Epub 2020 Mar 13. Ann Pathol. 2020. PMID: 32178889 Review. French.
About 23% of adnexal tumors are related to a hereditary syndrome, most often hereditary breast and ovarian cancer syndrome or Lynch syndrome, responsible of epithelial tumors. ...Finally, rare germ cell tumors have been reported related to ataxia telangiectasia. The …
About 23% of adnexal tumors are related to a hereditary syndrome, most often hereditary breast and ovarian cancer syndrome or Lynch s …
WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders.
Aldaz CM, Hussain T. Aldaz CM, et al. Int J Mol Sci. 2020 Nov 24;21(23):8922. doi: 10.3390/ijms21238922. Int J Mol Sci. 2020. PMID: 33255508 Free PMC article. Review.
WWOX biallelic germline pathogenic variants have been implicated in spinocerebellar ataxia type 12 (SCAR12; MIM:614322) and in early infantile epileptic encephalopathy (EIEE28; MIM:616211). ...Higher Wwox expression in interneurons and granule cells from cere …
WWOX biallelic germline pathogenic variants have been implicated in spinocerebellar ataxia type 12 (SCAR12; MIM:614322) …
Glycogen synthase kinase-3 inhibitors: Rescuers of cognitive impairments.
King MK, Pardo M, Cheng Y, Downey K, Jope RS, Beurel E. King MK, et al. Pharmacol Ther. 2014 Jan;141(1):1-12. doi: 10.1016/j.pharmthera.2013.07.010. Epub 2013 Jul 31. Pharmacol Ther. 2014. PMID: 23916593 Free PMC article. Review.
Here we review evidence that inhibition of glycogen synthase kinase-3 (GSK3) ameliorates cognitive deficits in a wide variety of animal models of CNS diseases, including Alzheimer's disease, Fragile X syndrome, Down syndrome, Parkinson's disease, spinocerebellar ataxia
Here we review evidence that inhibition of glycogen synthase kinase-3 (GSK3) ameliorates cognitive deficits in a wide variety of animal mode …
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J, Bagyinszky E, An SSA. Bagaria J, et al. Int J Mol Sci. 2022 Jan 4;23(1):552. doi: 10.3390/ijms23010552. Int J Mol Sci. 2022. PMID: 35008978 Free PMC article. Review.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally discovered in the population from the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region in Quebec. ...Other symptoms, such as pes cavus, at
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally di …
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