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

Year Number of Results
2002 1
2004 2
2006 1
2010 2
2011 3
2012 1
2013 2
2014 6
2015 2
2016 4
2017 3
2018 4
2019 1
2020 6
2021 4
2022 4
2023 1
2024 0

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47 results

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Page 1
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.
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: charlet berguerand n. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8. Autophagy. 2021. PMID: 33634751 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.
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.
Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N. Sellier C, et al. Among authors: charlet berguerand n. J Neurodev Disord. 2014;6(1):23. doi: 10.1186/1866-1955-6-23. Epub 2014 Jul 30. J Neurodev Disord. 2014. PMID: 25161746 Free PMC article. Review.
FXTAS: size does matter!
Sellier C, Charlet-Berguerand N. Sellier C, et al. Among authors: charlet berguerand n. Cell Cycle. 2014;13(21):3319. doi: 10.4161/15384101.2014.972920. Cell Cycle. 2014. PMID: 25485575 Free PMC article. No abstract available.
The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS.
Gohel D, Berguerand NC, Tassone F, Singh R. Gohel D, et al. Among authors: berguerand nc. Biochim Biophys Acta Mol Basis Dis. 2020 Dec 1;1866(12):165918. doi: 10.1016/j.bbadis.2020.165918. Epub 2020 Aug 12. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32800941 Free 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.
47 results