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Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.
Thomas FP, Saporta MA, Attarian S, Sevilla T, Sivera R, Fabrizi GM, Genovese F, Gray AJ, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Paoli X, Sénéchal T, Day L, Ouyang C, Llewellyn S, Larkin M, Boutalbi Y. Thomas FP, et al. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):7-17. doi: 10.1097/CND.0000000000000426. Epub 2022 Aug 19. J Clin Neuromuscul Dis. 2022. PMID: 36005469 Free PMC article.
A brief review of recent Charcot-Marie-Tooth research and priorities.
Ekins S, Litterman NK, Arnold RJ, Burgess RW, Freundlich JS, Gray SJ, Higgins JJ, Langley B, Willis DE, Notterpek L, Pleasure D, Sereda MW, Moore A. Ekins S, et al. F1000Res. 2015 Feb 26;4:53. doi: 10.12688/f1000research.6160.1. eCollection 2015. F1000Res. 2015. PMID: 25901280 Free PMC article. Review.
Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.
Gorman BR, Voloudakis G, Igo RP Jr, Kinzy T, Halladay CW, Bigdeli TB, Zeng B, Venkatesh S, Cooke Bailey JN, Crawford DC, Markianos K, Dong F, Schreiner PA, Zhang W; VA Million Veteran Program; International AMD Genomics Consortium (IAMDGC); Hadi T, Anger MD, Stockwell A, Melles RB, Yin J, Choquet H, Kaye R, Patasova K, Patel PJ, Yaspan BL, Jorgenson E, Hysi PG, Lotery AJ, Gaziano JM, Tsao PS, Fliesler SJ, Sullivan JM, Greenberg PB, Wu WC, Assimes TL, Pyarajan S, Roussos P, Peachey NS, Iyengar SK. Gorman BR, et al. Nat Genet. 2024 Dec;56(12):2659-2671. doi: 10.1038/s41588-024-01764-0. Epub 2024 Dec 2. Nat Genet. 2024. PMID: 39623103
THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A NEW TREATMENT OUTCOME AND NATURAL HISTORY REGISTRY FOR INHERITED RETINAL DISEASE.
Simunovic MP, Moore AT, Grigg J, Sergouniotis P, Mahroo OA, Vincent A, Singh M, Fischer MD, Edwards T, Mack H, Hogden M, Chen FK, Hewitt A, Ayton L, Leroy B, Jamieson R, Gillies MC, Barthelmes D. Simunovic MP, et al. Among authors: moore at. Retina. 2024 Oct 10. doi: 10.1097/IAE.0000000000004296. Online ahead of print. Retina. 2024. PMID: 39418576
Enhanced Learning and Memory in Patients with CRB1 Retinopathy.
Wright GA, Rodriguez-Martinez AC, Conn H, Matarin M, Thompson P, Moore AT, Ba-Abbad R, Webster AR, Moosajee M. Wright GA, et al. Among authors: moore at. Genes (Basel). 2024 May 22;15(6):660. doi: 10.3390/genes15060660. Genes (Basel). 2024. PMID: 38927596 Free PMC article.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: moore at. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
502 results