Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1981 1
1987 1
1997 1
1998 1
2001 1
2003 1
2005 1
2009 1
2010 1
2012 1
2013 1
2017 1
2020 3
2021 1
2022 2
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

17 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Spinocerebellar ataxia, autosomal recessive 32"
Page 1
Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome.
Kuhn K, Lederman HM, McGrath-Morrow SA. Kuhn K, et al. Expert Opin Investig Drugs. 2023 Jul-Dec;32(8):693-704. doi: 10.1080/13543784.2023.2249399. Epub 2023 Aug 28. Expert Opin Investig Drugs. 2023. PMID: 37622329 Review.
INTRODUCTION: Ataxia telangiectasia (A-T) is a life-limiting autosomal recessive disease characterized by cerebellar degeneration, ocular telangiectasias, and sinopulmonary disease. ...
INTRODUCTION: Ataxia telangiectasia (A-T) is a life-limiting autosomal recessive disease characterized by cerebellar de …
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
Synofzik M, Schüle R. Synofzik M, et al. Mov Disord. 2017 Mar;32(3):332-345. doi: 10.1002/mds.26944. Epub 2017 Feb 14. Mov Disord. 2017. PMID: 28195350 Free PMC article. Review.
Autosomal-dominant spinocerebellar ataxias, autosomal-recessive spinocerebellar ataxias, and hereditary spastic paraplegias have traditionally been designated in separate clinicogenetic disease classifications. ...The concept of a …
Autosomal-dominant spinocerebellar ataxias, autosomal-recessive spinocerebellar ataxias, an …
Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
Liu X, Wang L, Chen J, Kang C, Li J. Liu X, et al. Medicine (Baltimore). 2021 Dec 17;100(50):e28008. doi: 10.1097/MD.0000000000028008. Medicine (Baltimore). 2021. PMID: 34918652 Free PMC article. Review.
RATIONALE: Spinocerebellar ataxia (SCA) is a common neurogenetic disease that mainly manifests as ataxia of posture, gait, and limbs, cerebellar dysarthria, and cerebellar and supranuclear eye movement disorders. SCA has been found to include many subtypes, w …
RATIONALE: Spinocerebellar ataxia (SCA) is a common neurogenetic disease that mainly manifests as ataxia of posture, ga …
Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Bourassa J, Best KL, Gagnon C, Hébert LJ, Brais B, Routhier F. Bourassa J, et al. Disabil Rehabil Assist Technol. 2022 Nov;17(8):907-915. doi: 10.1080/17483107.2020.1821104. Epub 2020 Sep 26. Disabil Rehabil Assist Technol. 2022. PMID: 32981404
PURPOSE: To establish the reliability and construct validity of two French-Canadian versions of assessment tools for manual (MWC) and powered wheelchair (PWC) users with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): the Wheelchair Skills …
PURPOSE: To establish the reliability and construct validity of two French-Canadian versions of assessment tools for manual (MWC) and powere …
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Bourcier D, Bélanger M, Côté I, Brais B, Synofzik M, Brisson JD, Rodrigue X, Gagnon MM, Mathieu J, Gagnon C. Bourcier D, et al. J Neurol Sci. 2020 Oct 15;417:117050. doi: 10.1016/j.jns.2020.117050. Epub 2020 Jul 18. J Neurol Sci. 2020. PMID: 32736199
BACKGROUND: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia and is a candidate for outcome measurement in foreseeable clinical trials in Autosomal Recessive Spastic Ataxia …
BACKGROUND: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar …
Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS).
Dziewulska D. Dziewulska D. Folia Neuropathol. 2020;58(2):94-99. doi: 10.5114/fn.2020.96646. Folia Neuropathol. 2020. PMID: 32729297 Free article.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a form of cerebellar ataxia related to mutations in the SACS gene on chromosome 13q12.12 encoding sacsin protein. Characteristic clinical features are ataxia, spasticity, dist …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a form of cerebellar ataxia related to mut …
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, Uziel G, D'Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C. Prodi E, et al. Eur J Neurol. 2013 Jan;20(1):138-46. doi: 10.1111/j.1468-1331.2012.03815.x. Epub 2012 Jul 21. Eur J Neurol. 2013. PMID: 22816526
BACKGROUND AND PURPOSE: The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. ...The age at onset was in infancy, but one patient presented the first symptoms …
BACKGROUND AND PURPOSE: The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurod …
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.
Concannon P, Gatti RA. Concannon P, et al. Hum Mutat. 1997;10(2):100-7. doi: 10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O. Hum Mutat. 1997. PMID: 9259193 Review.
The ataxia-telangiectasia mutated (ATM) gene, which is mutated in the autosomal recessive disorder ataxia-telangiectasia (AT), was isolated in 1995 by positional cloning. ...A significant number of the reported mutations affect mRNA splicing with at le …
The ataxia-telangiectasia mutated (ATM) gene, which is mutated in the autosomal recessive disorder ataxia-telang …
Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic.
Kraft S, Furtado S, Ranawaya R, Parboosingh J, Bleoo S, McElligott K, Bridge P, Spacey S, Das S, Suchowersky O. Kraft S, et al. Can J Neurol Sci. 2005 Nov;32(4):450-8. doi: 10.1017/s0317167100004431. Can J Neurol Sci. 2005. PMID: 16408574
BACKGROUND: The spinocerebellar ataxias (SCAs) are a genetically and clinically heterogeneous group of neurodegenerative disorders. ...Twenty-one (35%) of the families displayed autosomal dominant and two (3.3%) showed autosomal recessive (AR) p …
BACKGROUND: The spinocerebellar ataxias (SCAs) are a genetically and clinically heterogeneous group of neurodegenerative disor …
17 results