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Page 1
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Anderson EN, Drukewitz S, Kour S, Chimata AV, Rajan DS, Schönnagel S, Stals KL, Donnelly D, O'Sullivan S, Mantovani JF, Tan TY, Stark Z, Zacher P, Chatron N, Monin P, Drunat S, Vial Y, Latypova X, Levy J, Verloes A, Carter JN, Bonner DE, Shankar SP, Bernstein JA, Cohen JS, Comi A, Carere DA, Dyer LM, Mullegama SV, Sanchez-Lara PA, Grand K, Kim HG, Ben-Mahmoud A, Gospe SM Jr, Belles RS, Bellus G, Lichtenbelt KD, Oegema R, Rauch A, Ivanovski I, Mau-Them FT, Garde A, Rabin R, Pappas J, Bley AE, Bredow J, Wagner T, Decker E, Bergmann C, Domenach L, Margot H; Undiagnosed Diseases Network; Lemke JR, Jamra RA, Hentschel J, Mefford H, Singh A, Pandey UB, Platzer K. Anderson EN, et al. medRxiv [Preprint]. 2025 Apr 1:2025.03.31.25324695. doi: 10.1101/2025.03.31.25324695. medRxiv. 2025. PMID: 40236430 Free PMC article. Preprint.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Kour S, et al. Among authors: anderson en. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. Nat Commun. 2021. PMID: 33963192 Free PMC article.
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
Fortuna TR, Kour S, Chimata AV, Muiños-Bühl A, Anderson EN, Nelson Iv CH, Ward C, Chauhan O, O'Brien C, Rajasundaram D, Rajan DS, Wirth B, Singh A, Pandey UB. Fortuna TR, et al. Among authors: anderson en. Acta Neuropathol. 2023 Sep;146(3):477-498. doi: 10.1007/s00401-023-02607-8. Epub 2023 Jun 27. Acta Neuropathol. 2023. PMID: 37369805 Free PMC article.
Small-molecule dissolution of stress granules by redox modulation benefits ALS models.
Uechi H, Sridharan S, Nijssen J, Bilstein J, Iglesias-Artola JM, Kishigami S, Casablancas-Antras V, Poser I, Martinez EJ, Boczek E, Wagner M, Tomschke N, de Jesus Domingues AM, Pal A, Doeleman T, Kour S, Anderson EN, Stein F, Lee HO, Zhang X, Fritsch AW, Jahnel M, Fürsch J, Murthy AC, Alberti S, Bickle M, Fawzi NL, Nadler A, David DC, Pandey UB, Hermann A, Stengel F, Davis BG, Baldwin AJ, Savitski MM, Hyman AA, Wheeler RJ. Uechi H, et al. Among authors: anderson en. Nat Chem Biol. 2025 May 14. doi: 10.1038/s41589-025-01893-5. Online ahead of print. Nat Chem Biol. 2025. PMID: 40369342
Drosha-dependent microRNAs modulate FUS-mediated neurodegeneration in vivo.
Kour S, Fortuna T, Anderson EN, Mawrie D, Bilstein J, Sivasubramanian R, Ward C, Roy R, Rajasundaram D, Sterneckert J, Pandey UB. Kour S, et al. Among authors: anderson en. Nucleic Acids Res. 2023 Nov 10;51(20):11258-11276. doi: 10.1093/nar/gkad774. Nucleic Acids Res. 2023. PMID: 37791873 Free PMC article.
52 results