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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: ganetzky rd. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
COXPD9 in an individual from Puerto Rico and literature review.
Alsharhan H, Muraresku C, Ganetzky RD. Alsharhan H, et al. Among authors: ganetzky rd. Am J Med Genet A. 2021 Aug;185(8):2519-2525. doi: 10.1002/ajmg.a.62344. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008913 Review.
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Ganetzky R, Vossough A, Goldstein A, Zuccoli G. Alves CAPF, et al. Ann Neurol. 2020 Aug;88(2):218-232. doi: 10.1002/ana.25789. Epub 2020 Jun 13. Ann Neurol. 2020. PMID: 32445240
Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations".
Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Zolkipli-Cunningham Z, Ganetzky R, Falk MJ, Vossough A, Goldstein A, Zuccoli G. Alves CAPF, et al. Ann Neurol. 2021 Mar;89(3):631-633. doi: 10.1002/ana.25999. Epub 2021 Jan 5. Ann Neurol. 2021. PMID: 33368550 No abstract available.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Andersen C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X. Qi C, et al. Among authors: ganetzky rd. Genet Med. 2022 Feb;24(2):319-331. doi: 10.1016/j.gim.2021.09.014. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906466 Free PMC article.
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Flickinger J, Fan J, Wellik A, Ganetzky R, Goldstein A, Muraresku CC, Glanzman AM, Ballance E, Leonhardt K, McCormick EM, Soreth B, Nguyen S, Gornish J, George-Sankoh I, Peterson J, MacMullen LE, Vishnubhatt S, McBride M, Haas R, Falk MJ, Xiao R, Zolkipli-Cunningham Z. Flickinger J, et al. JCSM Clin Rep. 2021 Oct;6(4):109-127. Epub 2021 Aug 30. JCSM Clin Rep. 2021. PMID: 35071983 Free PMC article.
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE. Szigety KM, et al. Pediatrics. 2022 Jul 1;150(1):e2021054520. doi: 10.1542/peds.2021-054520. Pediatrics. 2022. PMID: 35642503 Free PMC article.
44 results