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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: brault ja. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.
Keller SR, Mallack EJ, Rubin JP, Accardo JA, Brault JA, Corre CS, Elizondo C, Garafola J, Jackson-Garcia AC, Rhee J, Seeger E, Shullanberger KC, Tourjee A, Trovato MK, Waldman AT, Wallace JL, Wallace MR, Werner K, White A, Ess KC, Becker C, Eichler FS. Keller SR, et al. Among authors: brault ja. J Child Neurol. 2021 Jan;36(1):65-78. doi: 10.1177/0883073820946154. Epub 2020 Sep 2. J Child Neurol. 2021. PMID: 32875938 Free PMC article. Review.
11 results