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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi… See abstract for full author list ➔ Küry S, et al. Among authors: bryson l. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Edgerley K, Bryson L, Hanington L, Irving R, Joss S, Lampe A, Maystadt I, Osio D, Richardson R, Split M, Sansbury FH, Scurr I, Stewart H, McNeil A, Low K. Edgerley K, et al. Among authors: bryson l. Am J Med Genet A. 2023 May;191(5):1447-1458. doi: 10.1002/ajmg.a.63124. Epub 2023 Mar 2. Am J Med Genet A. 2023. PMID: 36861937
Co-designing a behavioural intervention for reducing the impact of chemotherapy-induced peripheral neuropathy symptoms: An evidence- and theory-driven approach.
Tanay MAL, Armes J, Oakley C, Bryson L, Johnston R, Moss-Morris R, Rafferty AM, Roca J, Sage L, Tanner D, Urwin L, Wyatt T, Robert G. Tanay MAL, et al. Among authors: bryson l. Eur J Cancer Care (Engl). 2022 Nov;31(6):e13671. doi: 10.1111/ecc.13671. Epub 2022 Aug 12. Eur J Cancer Care (Engl). 2022. PMID: 35959639 Free PMC article.
Growth and neurodevelopment in low birth weight versus normal birth weight infants from birth to 24 months, born in an obstetric emergency hospital in Haiti, a prospective cohort study.
Hilaire M, Andrianou XD, Lenglet A, Ariti C, Charles K, Buitenhuis S, Van Brusselen D, Roggeveen H, Ledger E, Denat RS, Bryson L. Hilaire M, et al. Among authors: bryson l. BMC Pediatr. 2021 Mar 24;21(1):143. doi: 10.1186/s12887-021-02605-3. BMC Pediatr. 2021. PMID: 33761917 Free PMC article.
How to use genetic testing after sudden infant death syndrome.
Bryson LJ, Joss S. Bryson LJ, et al. Arch Dis Child Educ Pract Ed. 2022 Oct;107(5):383-385. doi: 10.1136/archdischild-2020-320835. Epub 2021 Jan 12. Arch Dis Child Educ Pract Ed. 2022. PMID: 33436404 No abstract available.
48 results