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

Year Number of Results
2007 1
2009 1
2010 3
2012 1
2014 2
2016 2
2017 1
2019 4
2020 2
2021 2
2022 3
2023 0
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22 results
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Page 1
A reference human induced pluripotent stem cell line for large-scale collaborative studies.
Pantazis CB, Yang A, Lara E, McDonough JA, Blauwendraat C, Peng L, Oguro H, Kanaujiya J, Zou J, Sebesta D, Pratt G, Cross E, Blockwick J, Buxton P, Kinner-Bibeau L, Medura C, Tompkins C, Hughes S, Santiana M, Faghri F, Nalls MA, Vitale D, Ballard S, Qi YA, Ramos DM, Anderson KM, Stadler J, Narayan P, Papademetriou J, Reilly L, Nelson MP, Aggarwal S, Rosen LU, Kirwan P, Pisupati V, Coon SL, Scholz SW, Priebe T, Öttl M, Dong J, Meijer M, Janssen LJM, Lourenco VS, van der Kant R, Crusius D, Paquet D, Raulin AC, Bu G, Held A, Wainger BJ, Gabriele RMC, Casey JM, Wray S, Abu-Bonsrah D, Parish CL, Beccari MS, Cleveland DW, Li E, Rose IVL, Kampmann M, Calatayud Aristoy C, Verstreken P, Heinrich L, Chen MY, Schüle B, Dou D, Holzbaur ELF, Zanellati MC, Basundra R, Deshmukh M, Cohen S, Khanna R, Raman M, Nevin ZS, Matia M, Van Lent J, Timmerman V, Conklin BR, Johnson Chase K, Zhang K, Funes S, Bosco DA, Erlebach L, Welzer M, Kronenberg-Versteeg D, Lyu G, Arenas E, Coccia E, Sarrafha L, Ahfeldt T, Marioni JC, Skarnes WC, Cookson MR, Ward ME, Merkle FT. Pantazis CB, et al. Among authors: paquet d. Cell Stem Cell. 2022 Dec 1;29(12):1685-1702.e22. doi: 10.1016/j.stem.2022.11.004. Cell Stem Cell. 2022. PMID: 36459969 Free article.
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A, Krogsaeter EK, Jaślan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C. Scotto Rosato A, et al. Among authors: paquet d. EMBO Mol Med. 2022 Sep 7;14(9):e15377. doi: 10.15252/emmm.202115377. Epub 2022 Aug 5. EMBO Mol Med. 2022. PMID: 35929194 Free PMC article.
Loss of TREM2 rescues hyperactivation of microglia, but not lysosomal deficits and neurotoxicity in models of progranulin deficiency.
Reifschneider A, Robinson S, van Lengerich B, Gnörich J, Logan T, Heindl S, Vogt MA, Weidinger E, Riedl L, Wind K, Zatcepin A, Pesämaa I, Haberl S, Nuscher B, Kleinberger G, Klimmt J, Götzl JK, Liesz A, Bürger K, Brendel M, Levin J, Diehl-Schmid J, Suh J, Di Paolo G, Lewcock JW, Monroe KM, Paquet D, Capell A, Haass C. Reifschneider A, et al. Among authors: paquet d. EMBO J. 2022 Feb 15;41(4):e109108. doi: 10.15252/embj.2021109108. Epub 2022 Jan 12. EMBO J. 2022. PMID: 35019161 Free PMC article.
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK, Paquet D, Grimm CM, Montefusco S, Braulke T, Storch S, Mole SE, De Matteis MA, Ballabio A, Sampaio JL, McKay T, Johannes L, Bolaños JP, Medina DL. Soldati C, et al. Among authors: paquet d. EMBO Mol Med. 2021 Oct 7;13(10):e13742. doi: 10.15252/emmm.202013742. Epub 2021 Aug 19. EMBO Mol Med. 2021. PMID: 34411438 Free PMC article.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.
Lafaille FG, Harschnitz O, Lee YS, Zhang P, Hasek ML, Kerner G, Itan Y, Ewaleifoh O, Rapaport F, Carlile TM, Carter-Timofte ME, Paquet D, Dobbs K, Zimmer B, Gao D, Rojas-Duran MF, Kwart D, Rattina V, Ciancanelli MJ, McAlpine JL, Lorenzo L, Boucherit S, Rozenberg F, Halwani R, Henry B, Amenzoui N, Alsum Z, Marques L, Church JA, Al-Muhsen S, Tardieu M, Bousfiha AA, Paludan SR, Mogensen TH, Quintana-Murci L, Tessier-Lavigne M, Smith GA, Notarangelo LD, Studer L, Gilbert W, Abel L, Casanova JL, Zhang SY. Lafaille FG, et al. Among authors: paquet d. Nat Med. 2019 Dec;25(12):1873-1884. doi: 10.1038/s41591-019-0672-3. Epub 2019 Dec 5. Nat Med. 2019. PMID: 31806906 Free PMC article.
22 results