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
2003 1
2004 2
2007 1
2009 1
2011 1
2012 4
2013 5
2014 4
2015 4
2016 3
2017 4
2018 3
2019 5
2020 3
2021 11
2022 8
2023 6
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

57 results

Results by year

Filters applied: . Clear all
Page 1
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: vilain c. Mov Disord. 2024 Apr 6. doi: 10.1002/mds.29754. Online ahead of print. Mov Disord. 2024. PMID: 38581205
A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases.
Al-Thani M, Goodwin-Trotman M, Bell S, Patel K, Fleming LK, Vilain C, Abramowicz M, Allan SM, Wang T, Cader MZ, Horsburgh K, Van Agtmael T, Sinha S, Markus HS, Granata A. Al-Thani M, et al. Among authors: vilain c. Stem Cell Reports. 2023 Dec 12;18(12):2386-2399. doi: 10.1016/j.stemcr.2023.10.014. Epub 2023 Nov 16. Stem Cell Reports. 2023. PMID: 37977146 Free PMC article.
An exome-wide study of renal operational tolerance.
Massart A, Danger R, Olsen C, Emond MJ, Viklicky O, Jacquemin V, Soblet J, Duerinckx S, Croes D, Perazzolo C, Hruba P, Daneels D, Caljon B, Sever MS, Pascual J, Miglinas M; Renal Tolerance Investigators; Pirson I, Ghisdal L, Smits G, Giral M, Abramowicz D, Abramowicz M, Brouard S. Massart A, et al. Front Med (Lausanne). 2023 May 17;9:976248. doi: 10.3389/fmed.2022.976248. eCollection 2022. Front Med (Lausanne). 2023. PMID: 37265662 Free PMC article.
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.
Kadhim H, El-Howayek E, Coppens S, Duff J, Topf A, Kaleeta JP, Simoni P, Boitsios G, Remiche G, Straub V, Vilain C, Deconinck N. Kadhim H, et al. Among authors: vilain c. Neuromuscul Disord. 2023 May;33(5):410-416. doi: 10.1016/j.nmd.2023.03.007. Epub 2023 Mar 22. Neuromuscul Disord. 2023. PMID: 37037050
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-Cousin L, Mastronuzzi A, Pastorino L, Pfister SM, Schroeder C, Smith MJ, Vahteristo P, Vibert R, Vilain C, Waespe N, Winship IM, Evans DG, Brugieres L. Guerrini-Rousseau L, et al. Among authors: vilain c. J Med Genet. 2022 Jun 29;59(11):1123-32. doi: 10.1136/jmedgenet-2021-108385. Online ahead of print. J Med Genet. 2022. PMID: 35768194 Free PMC article.
57 results