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DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: mackenzie a. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
Carrier testing for spinal muscular atrophy.
Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR. Gitlin JM, et al. Among authors: mackenzie a. Genet Med. 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079. Genet Med. 2010. PMID: 20808230 Free PMC article.
Loss of GPR75 protects against non-alcoholic fatty liver disease and body fat accumulation.
Leeson-Payne A, Iyinikkel J, Malcolm C, Lam BYH, Sommer N, Dowsett GKC, Martinez de Morentin PB, Thompson D, Mackenzie A, Chianese R, Kentistou K, Gardner EJ, Perry JRB, Grassmann F, Speakman JR, Rochford JJ, Yeo GSH, Murray F, Heisler LK. Leeson-Payne A, et al. Among authors: mackenzie a. Cell Metab. 2024 Apr 18:S1550-4131(24)00120-7. doi: 10.1016/j.cmet.2024.03.016. Online ahead of print. Cell Metab. 2024. PMID: 38653246
brainlife.io: a decentralized and open-source cloud platform to support neuroscience research.
Hayashi S, Caron BA, Heinsfeld AS, Vinci-Booher S, McPherson B, Bullock DN, Bertò G, Niso G, Hanekamp S, Levitas D, Ray K, MacKenzie A, Avesani P, Kitchell L, Leong JK, Nascimento-Silva F, Koudoro S, Willis H, Jolly JK, Pisner D, Zuidema TR, Kurzawski JW, Mikellidou K, Bussalb A, Chaumon M, George N, Rorden C, Victory C, Bhatia D, Aydogan DB, Yeh FF, Delogu F, Guaje J, Veraart J, Fischer J, Faskowitz J, Fabrega R, Hunt D, McKee S, Brown ST, Heyman S, Iacovella V, Mejia AF, Marinazzo D, Craddock RC, Olivetti E, Hanson JL, Garyfallidis E, Stanzione D, Carson J, Henschel R, Hancock DY, Stewart CA, Schnyer D, Eke DO, Poldrack RA, Bollman S, Stewart A, Bridge H, Sani I, Freiwald WA, Puce A, Port NL, Pestilli F. Hayashi S, et al. Among authors: mackenzie a. Nat Methods. 2024 Apr 11. doi: 10.1038/s41592-024-02237-2. Online ahead of print. Nat Methods. 2024. PMID: 38605111
The use of NADH anisotropy to investigate mitochondrial cristae alignment.
Smith HE, Mackenzie AM, Seddon C, Mould R, Kalampouka I, Malakar P, Needham SR, Beis K, Bell JD, Nunn A, Botchway SW. Smith HE, et al. Among authors: mackenzie am. Sci Rep. 2024 Mar 12;14(1):5980. doi: 10.1038/s41598-024-55780-5. Sci Rep. 2024. PMID: 38472304 Free PMC article.
Ultra weak photon emission-a brief review.
Mould RR, Mackenzie AM, Kalampouka I, Nunn AVW, Thomas EL, Bell JD, Botchway SW. Mould RR, et al. Among authors: mackenzie am. Front Physiol. 2024 Feb 14;15:1348915. doi: 10.3389/fphys.2024.1348915. eCollection 2024. Front Physiol. 2024. PMID: 38420619 Free PMC article. Review.
1,282 results