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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Tassone F, et al. Among authors: todd pk. Cells. 2023 Sep 21;12(18):2330. doi: 10.3390/cells12182330. Cells. 2023. PMID: 37759552 Free PMC article. Review.
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.
Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N. Sellier C, et al. Among authors: todd pk. Neuron. 2017 Jan 18;93(2):331-347. doi: 10.1016/j.neuron.2016.12.016. Epub 2017 Jan 5. Neuron. 2017. PMID: 28065649 Free PMC article.
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Kong HE, Lim J, Linsalata A, Kang Y, Malik I, Allen EG, Cao Y, Shubeck L, Johnston R, Huang Y, Gu Y, Guo X, Zwick ME, Qin Z, Wingo TS, Juncos J, Nelson DL, Epstein MP, Cutler DJ, Todd PK, Sherman SL, Warren ST, Jin P. Kong HE, et al. Among authors: todd pk. Proc Natl Acad Sci U S A. 2022 May 31;119(22):e2118124119. doi: 10.1073/pnas.2118124119. Epub 2022 May 26. Proc Natl Acad Sci U S A. 2022. PMID: 35617426 Free PMC article.
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.
Hessl D, Rosselot H, Miller R, Espinal G, Famula J, Sherman SL, Todd PK, Cabal Herrera AM, Lipworth K, Cohen J, Hall DA, Leehey M, Grigsby J, Weber JD, Alusi S, Wheeler A, Raspa M, Hudson T, Sobrian SK. Hessl D, et al. Among authors: todd pk. J Med Genet. 2022 Dec;59(12):1165-1170. doi: 10.1136/jmedgenet-2022-108568. Epub 2022 Jun 14. J Med Genet. 2022. PMID: 35701103 Free PMC article.
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons.
Maltby CJ, Krans A, Grudzien SJ, Palacios Y, Muiños J, Suárez A, Asher M, Willey S, Van Deynze K, Mumm C, Boyle AP, Cortese A, Ndayisaba A, Khurana V, Barmada SJ, Dijkstra AA, Todd PK. Maltby CJ, et al. Among authors: todd pk. Sci Adv. 2024 Sep 6;10(36):eadn2321. doi: 10.1126/sciadv.adn2321. Epub 2024 Sep 4. Sci Adv. 2024. PMID: 39231235 Free PMC article.
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