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Sphingolipids in neurodegenerative diseases.
Pan X, Dutta D, Lu S, Bellen HJ. Pan X, et al. Among authors: bellen hj. Front Neurosci. 2023 Feb 16;17:1137893. doi: 10.3389/fnins.2023.1137893. eCollection 2023. Front Neurosci. 2023. PMID: 36875645 Free PMC article. Review.
Functional conservation of atonal and Math1 in the CNS and PNS.
Ben-Arie N, Hassan BA, Bermingham NA, Malicki DM, Armstrong D, Matzuk M, Bellen HJ, Zoghbi HY. Ben-Arie N, et al. Among authors: bellen hj. Development. 2000 Mar;127(5):1039-48. doi: 10.1242/dev.127.5.1039. Development. 2000. PMID: 10662643
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: bellen hj. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782
Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.
Sinha Ray S, Dutta D, Dennys C, Powers S, Roussel F, Lisowski P, Glažar P, Zhang X, Biswas P, Caporale JR, Rajewsky N, Bickle M, Wein N, Bellen HJ, Likhite S, Marcogliese PC, Meyer KC. Sinha Ray S, et al. Among authors: bellen hj. Cell Rep. 2022 Dec 6;41(10):111751. doi: 10.1016/j.celrep.2022.111751. Cell Rep. 2022. PMID: 36476864 Free article.
379 results