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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Gunning AC, et al. Among authors: cunningham mh. Am J Hum Genet. 2020 Feb 6;106(2):272-279. doi: 10.1016/j.ajhg.2020.01.007. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004445 Free PMC article.
Global, regional, and national age-sex-specific burden of diarrhoeal diseases, their risk factors, and aetiologies, 1990-2021, for 204 countries and territories: a systematic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Diarrhoeal Diseases Collaborators. GBD 2021 Diarrhoeal Diseases Collaborators. Lancet Infect Dis. 2024 Dec 18:S1473-3099(24)00691-1. doi: 10.1016/S1473-3099(24)00691-1. Online ahead of print. Lancet Infect Dis. 2024. PMID: 39708822 Free article.
Quality-of-Life Analysis of a Phase II Randomised Controlled Trial Comparing Three-Dimensional Conformal Radiotherapy and Intensity-Modulated Radiotherapy in Locally Advanced Rectal Cancer.
Geary RL, Gillham C, McVey G, Armstrong J, Cunningham M, Rangaswamy G, Sharma D, Wallace N, Skourou C, Dunne M, Mahon M, Bradshaw S, O'Sullivan L, Marron J, Parker I, Shannon AM, McDermott R, Toomey S, Hennessy BT, O'Neill B. Geary RL, et al. Among authors: cunningham m. Clin Oncol (R Coll Radiol). 2024 Nov 20;37:103695. doi: 10.1016/j.clon.2024.103695. Online ahead of print. Clin Oncol (R Coll Radiol). 2024. PMID: 39693793
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
2,463 results