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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J. Burglen L, et al. Among authors: rodriguez d. Elife. 2023 Jan 17;12:e81032. doi: 10.7554/eLife.81032. Elife. 2023. PMID: 36648066 Free PMC article.
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ. Hogarth P, et al. Among authors: rodriguez d. Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26. Neurology. 2013. PMID: 23269600 Free PMC article.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. Morgan NV, et al. Among authors: rodriguez d. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18. Nat Genet. 2006. PMID: 16783378 Free PMC article.
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Valayannopoulos V, Michot C, Rodriguez D, Hubert L, Saillour Y, Labrune P, de Laveaucoupet J, Brunelle F, Amiel J, Lyonnet S, Enza-Razavi F, Attié-Bitach T, Lacombe D, Bahi-Buisson N, Desguerre I, Chelly J, Burglen L, Boddaert N, de Lonlay P. Valayannopoulos V, et al. Among authors: rodriguez d. Brain. 2012 Jan;135(Pt 1):e199; author reply e200. doi: 10.1093/brain/awr108. Epub 2011 May 23. Brain. 2012. PMID: 21609947 No abstract available.
Shifting Extraocular Motility in a Patient With Burkitt Lymphoma.
Nolan RP, Rodriguez DA, Mathew AJ, Mudie LI, Yen MT. Nolan RP, et al. Among authors: rodriguez da. Ophthalmic Plast Reconstr Surg. 2024 Oct 8. doi: 10.1097/IOP.0000000000002791. Online ahead of print. Ophthalmic Plast Reconstr Surg. 2024. PMID: 39724668 No abstract available.
Long-term effectiveness and tolerability of dolutegravir/lamivudine in treatment-naive people with HIV: an analysis of a multicentre cohort at 96 weeks.
Suárez-García I, Alejos B, Moreno C, Martín Torres J, Masiá M, García-Fraile LJ, Riera M, Dalmau D, Rodríguez-Rosado R, Muga R, Moreno S, Jarrín I; CoRIS cohort. Suárez-García I, et al. J Antimicrob Chemother. 2024 Dec 23:dkae456. doi: 10.1093/jac/dkae456. Online ahead of print. J Antimicrob Chemother. 2024. PMID: 39710424
Indicator-based tuberculosis infection control assessments with knowledge, attitudes, and practices evaluations among health facilities in China, 2017-2019.
Zhang C, O'Connor S, Chen H, Rodriguez DF, Hao L, Wang Y, Li Y, Xu J, Chen Y, Xia L, Yang X, Zhao Y, Cheng J. Zhang C, et al. Among authors: rodriguez df. Am J Infect Control. 2024 Dec 19:S0196-6553(24)00902-7. doi: 10.1016/j.ajic.2024.12.013. Online ahead of print. Am J Infect Control. 2024. PMID: 39709075
2,408 results