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
2009 1
2010 1
2014 1
2015 1
2016 1
2017 1
2018 2
2019 3
2020 2
2021 2
2022 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Ung DC, Pietrancosta N, Badillo EB, Raux B, Tapken D, Zlatanovic A, Doridant A, Pode-Shakked B, Raas-Rothschild A, Elpeleg O, Abu-Libdeh B, Hamed N, Papon MA, Marouillat S, Thépault RA, Stevanin G, Elegheert J, Letellier M, Hollmann M, Lambolez B, Tricoire L, Toutain A, Hepp R, Laumonnier F. Ung DC, et al. Among authors: thepault ra. Mol Psychiatry. 2024 Feb 28. doi: 10.1038/s41380-024-02469-w. Online ahead of print. Mol Psychiatry. 2024. PMID: 38418578
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.
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.
Sonic Hedgehog Signature in Pediatric Primary Bone Tumors: Effects of the GLI Antagonist GANT61 on Ewing's Sarcoma Tumor Growth.
Mullard M, Cadé M, Morice S, Dupuy M, Danieau G, Amiaud J, Renault S, Lézot F, Brion R, Thepault RA, Ory B, Lamoureux F, Corre I, Brounais-LeRoyer B, Rédini F, Verrecchia F. Mullard M, et al. Among authors: thepault ra. Cancers (Basel). 2020 Nov 19;12(11):3438. doi: 10.3390/cancers12113438. Cancers (Basel). 2020. PMID: 33228057 Free PMC article.
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
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
Epidemiological Outbreaks of Pneumocystis jirovecii Pneumonia Are Not Limited to Kidney Transplant Recipients: Genotyping Confirms Common Source of Transmission in a Liver Transplantation Unit.
Desoubeaux G, Dominique M, Morio F, Thepault RA, Franck-Martel C, Tellier AC, Ferrandière M, Hennequin C, Bernard L, Salamé E, Bailly É, Chandenier J. Desoubeaux G, et al. Among authors: thepault ra. J Clin Microbiol. 2016 May;54(5):1314-20. doi: 10.1128/JCM.00133-16. Epub 2016 Mar 2. J Clin Microbiol. 2016. PMID: 26935726 Free PMC article.
14 results