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 Custom Filters

Results by year

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

Year Number of Results
2016 1
2017 1
2018 1
2020 1
2021 1
2024 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27. Genet Med. 2020. PMID: 32713943 Free article.
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Genet Med. 2021 Oct;23(10):2021. doi: 10.1038/s41436-020-01064-y. Genet Med. 2021. PMID: 33353973 Free article. No abstract available.
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Bettencourt C, Hensman-Moss D, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P; SPATAX Network; Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L. Bettencourt C, et al. Ann Neurol. 2016 Jun;79(6):983-90. doi: 10.1002/ana.24656. Epub 2016 May 6. Ann Neurol. 2016. PMID: 27044000 Free PMC article.
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network. Coutelier M, et al. Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081. Brain. 2017. PMID: 28444220