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Page 1
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Among authors: hunt d. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC. Pagnamenta AT, et al. J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411030 Free PMC article.
Constraints on Covariant Dark-Matter-Nucleon Effective Field Theory Interactions from the First Science Run of the LUX-ZEPLIN Experiment.
Aalbers J, Akerib DS, Al Musalhi AK, Alder F, Amarasinghe CS, Ames A, Anderson TJ, Angelides N, Araújo HM, Armstrong JE, Arthurs M, Baker A, Balashov S, Bang J, Barillier EE, Bargemann JW, Beattie K, Benson T, Bhatti A, Biekert A, Biesiadzinski TP, Birch HJ, Bishop EJ, Blockinger GM, Boxer B, Brew CAJ, Brás P, Burdin S, Buuck M, Carmona-Benitez MC, Carter M, Chawla A, Chen H, Cherwinka JJ, Chin YT, Chott NI, Converse MV, Cottle A, Cox G, Curran D, Dahl CE, David A, Delgaudio J, Dey S, de Viveiros L, Di Felice L, Ding C, Dobson JEY, Druszkiewicz E, Eriksen SR, Fan A, Fearon NM, Fiorucci S, Flaecher H, Fraser ED, Fruth TMA, Gaitskell RJ, Geffre A, Genovesi J, Ghag C, Gibbons R, Gokhale S, Green J, van der Grinten MGD, Haiston JJ, Hall CR, Han S, Hartigan-O'Connor E, Haselschwardt SJ, Hernandez MA, Hertel SA, Heuermann G, Homenides GJ, Horn M, Huang DQ, Hunt D, Jacquet E, James RS, Johnson J, Kaboth AC, Kamaha AC, Kannichankandy M, Khaitan D, Khazov A, Khurana I, Kim JD, Kim J, Kingston J, Kirk R, Kodroff D, Korley L, Korolkova EV, Kraus H, Kravitz S, Kreczko L, Kudryavtsev VA, Leonard DS, Lesko KT, Levy C, Lin J, Lindote A, Linehan R, Lippincott WH, Lopes MI, Lorenzon W, Lu C… See abstract for full author list ➔ Aalbers J, et al. Among authors: hunt d. Phys Rev Lett. 2024 Nov 29;133(22):221801. doi: 10.1103/PhysRevLett.133.221801. Phys Rev Lett. 2024. PMID: 39672140
Free water elimination tractometry for aging brains.
Chang K, Burke L, LaPiana N, Howlett B, Hunt D, Dezelar M, Andre JB, Curl P, Ralston JD, Rokem A, Mac Donald CL. Chang K, et al. Among authors: hunt d. bioRxiv [Preprint]. 2024 Nov 11:2024.11.10.622861. doi: 10.1101/2024.11.10.622861. bioRxiv. 2024. PMID: 39605349 Free PMC article. Preprint.
White paper: Understanding, informing and defining the regulatory science of microneedle-based dosage forms that are applied to the skin.
Dul M, Alali M, Ameri M, Burke MD, Creelman BP, Dick L, Donnelly RF, Eakins MN, Frivold C, Forster AH, Gilbert PA, Henke S, Henry S, Hunt D, Lewis H, Mistilis JJ, Park JH, Prausnitz MR, Robinson DK, Hernandez CAR, Shin J, Speaker TJ, Strasinger C, Taylor KMG, Zehrung D, Birchall JC, Jarrahian C, Coulman SA. Dul M, et al. Among authors: hunt d. J Control Release. 2024 Dec 20;378:402-415. doi: 10.1016/j.jconrel.2024.11.056. Online ahead of print. J Control Release. 2024. PMID: 39603537 Free article.
Skin health of urban-living Aboriginal children attending a primary care Aboriginal Community Controlled Health Organisation clinic.
Ricciardo BM, Kessaris HL, Nannup UN, Tilbrook AD, Douglas R, Hunt D, Isaacs K, Stirling J, Walton J, Michie C, Farrant B, Delaney E, Kumarasinghe SP, Carapetis JR, Bowen AC. Ricciardo BM, et al. Among authors: hunt d. Aust J Gen Pract. 2024 Nov-Supplement;53(11 Suppl):S115-S122. doi: 10.31128/AJGP-03-24-7177. Aust J Gen Pract. 2024. PMID: 39542685 Free article.
2,271 results