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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

55 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome.
Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL. Todd PK, et al. Neuron. 2013 May 8;78(3):440-55. doi: 10.1016/j.neuron.2013.03.026. Epub 2013 Apr 18. Neuron. 2013. PMID: 23602499 Free PMC article.
PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD.
Pilotto F, Schmitz A, Maharjan N, Diab R, Odriozola A, Tripathi P, Yamoah A, Scheidegger O, Oestmann A, Dennys CN, Sinha Ray S, Rodrigo R, Kolb S, Aronica E, Di Santo S, Widmer HR, Charlet-Berguerand N, Selvaraj BT, Chandran S, Meyer K, Zuber B, Goswami A, Weis J, Saxena S. Pilotto F, et al. Among authors: charlet berguerand n. Acta Neuropathol. 2022 Nov;144(5):939-966. doi: 10.1007/s00401-022-02494-5. Epub 2022 Sep 19. Acta Neuropathol. 2022. PMID: 36121477 Free PMC article.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Scala M, Drouot N, MacLennan SC, Wessels MW, Krygier M, Pavinato L, Telegrafi A, de Man SA, van Slegtenhorst M, Iacomino M, Madia F, Scudieri P, Uva P, Giacomini T, Nobile G, Mancardi MM, Balagura G, Galloni GB, Verrotti A, Umair M, Khan A, Liebelt J, Schmidts M, Langer T, Brusco A, Lipska-Ziętkiewicz BS, Saris JJ, Charlet-Berguerand N, Zara F, Striano P, Piton A. Scala M, et al. Among authors: charlet berguerand n. Hum Mutat. 2022 Sep;43(9):1299-1313. doi: 10.1002/humu.24414. Epub 2022 Jun 8. Hum Mutat. 2022. PMID: 35607920 Free PMC article.
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.
Boivin M, Deng J, Pfister V, Grandgirard E, Oulad-Abdelghani M, Morlet B, Ruffenach F, Negroni L, Koebel P, Jacob H, Riet F, Dijkstra AA, McFadden K, Clayton WA, Hong D, Miyahara H, Iwasaki Y, Sone J, Wang Z, Charlet-Berguerand N. Boivin M, et al. Among authors: charlet berguerand n. Neuron. 2021 Jun 2;109(11):1825-1835.e5. doi: 10.1016/j.neuron.2021.03.038. Epub 2021 Apr 21. Neuron. 2021. PMID: 33887199 Free PMC article.
Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms.
Dijkstra AA, Haify SN, Verwey NA, Prins ND, van der Toorn EC, Rozemuller AJM, Bugiani M, den Dunnen WFA, Todd PK, Charlet-Berguerand N, Willemsen R, Hukema RK, Hoozemans JJM. Dijkstra AA, et al. Among authors: charlet berguerand n. Brain Commun. 2021 Jan 27;3(1):fcab007. doi: 10.1093/braincomms/fcab007. eCollection 2021. Brain Commun. 2021. PMID: 33709078 Free PMC article.
55 results