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

Text availability

Article attribute

Article type

Publication date

Search Results

18 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability.
Tastet J, Cuberos H, Vallée B, Toutain A, Raynaud M, Marouillat S, Thépault RA, Laumonnier F, Bonnet-Brilhault F, Vourc'h P, Andres CR, Bénédetti H. Tastet J, et al. Among authors: thepault ra. Neuroscience. 2019 Feb 10;399:199-210. doi: 10.1016/j.neuroscience.2018.12.017. Epub 2018 Dec 27. Neuroscience. 2019. PMID: 30594563
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Halewa J, Marouillat S, Dixneuf M, Thépault RA, Ung DC, Chatron N, Gérard B, Ghoumid J, Lesca G, Till M, Smol T, Couque N, Ruaud L, Chune V, Grotto S, Verloes A, Vuillaume ML, Toutain A, Raynaud M, Laumonnier F. Halewa J, et al. Among authors: thepault ra. Hum Mutat. 2021 Jul;42(7):848-861. doi: 10.1002/humu.24208. Epub 2021 May 3. Hum Mutat. 2021. PMID: 33856728 Free PMC article.
Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.
Maurel C, Madji-Hounoum B, Thepault RA, Marouillat S, Brulard C, Danel-Brunaud V, Camdessanche JP, Blasco H, Corcia P, Andres CR, Vourc'h P. Maurel C, et al. Among authors: thepault ra. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):149-151. doi: 10.1080/21678421.2017.1349152. Epub 2017 Jul 13. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 28705014
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F. Jeanne M, et al. Among authors: thepault ra. Am J Hum Genet. 2021 May 6;108(5):951-961. doi: 10.1016/j.ajhg.2021.04.004. Epub 2021 Apr 23. Am J Hum Genet. 2021. PMID: 33894126 Free PMC article.
Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism.
Tastet J, Decalonne L, Marouillat S, Malvy J, Thépault RA, Toutain A, Paubel A, Tabagh R, Bénédetti H, Laumonnier F, Barthélémy C, Bonnet-Brilhault F, Andres CR, Vourc'h P. Tastet J, et al. Among authors: thepault ra. Psychiatr Genet. 2015 Dec;25(6):263-7. doi: 10.1097/YPG.0000000000000100. Psychiatr Genet. 2015. PMID: 26368817
18 results