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84 results

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Page 1
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang YJ, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Kargbo-Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Sacramento EK, Shah SI, Nalls MA, Colón-Mercado JM, Reyes JF, Ryan VH, Nelson MP, Cook CN, Li Z, Screven L, Kwan JY, Mehta PR, Zanovello M, Hallegger M, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff NP, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Reich DS, Rohrer JD, Malaspina A, Dickson DW, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: mehta pr. Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. Epub 2024 Feb 14. Sci Transl Med. 2024. PMID: 38277467 Free PMC article.
Creation of de novo cryptic splicing for ALS and FTD precision medicine.
Wilkins OG, Chien MZYJ, Wlaschin JJ, Barattucci S, Harley P, Mattedi F, Mehta PR, Pisliakova M, Ryadnov E, Keuss MJ, Thompson D, Digby H, Knez L, Simkin RL, Diaz JA, Zanovello M, Brown AL, Darbey A, Karda R, Fisher EMC, Cunningham TJ, Le Pichon CE, Ule J, Fratta P. Wilkins OG, et al. Among authors: mehta pr. Science. 2024 Oct 4;386(6717):61-69. doi: 10.1126/science.adk2539. Epub 2024 Oct 3. Science. 2024. PMID: 39361759 Free PMC article.
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE. Schon K, et al. Among authors: mehta pr. Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. Ann Neurol. 2019. PMID: 30549301 Free PMC article.
Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOs.
Keuss MJ, Harley P, Ryadnov E, Jackson RE, Zanovello M, Wilkins OG, Barattucci S, Mehta PR, Oliveira MG, Parkes JE, Sinha A, Correa-Sánchez AF, Oliver PL, Fisher EMC, Schiavo G, Shah M, Burrone J, Fratta P. Keuss MJ, et al. Among authors: mehta pr. bioRxiv [Preprint]. 2024 Jun 24:2024.06.20.599684. doi: 10.1101/2024.06.20.599684. bioRxiv. 2024. PMID: 38979232 Free PMC article. Preprint.
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: mehta pr. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.
Altered mRNA transport and local translation in iNeurons with RNA binding protein knockdown.
Dargan R, Mikheenko A, Johnson NL, Packer B, Li Z, Craig EJ, Sarbanes SL, Bereda C, Mehta PR, Keuss M, Nalls MA, Qi YA, Weller CA, Fratta P, Ryan VH. Dargan R, et al. Among authors: mehta pr. bioRxiv [Preprint]. 2024 Sep 27:2024.09.26.615153. doi: 10.1101/2024.09.26.615153. bioRxiv. 2024. Update in: Nucleic Acids Res. 2025 Jul 19;53(14):gkaf709. doi: 10.1093/nar/gkaf709. PMID: 39386562 Free PMC article. Updated. Preprint.
The era of cryptic exons: implications for ALS-FTD.
Mehta PR, Brown AL, Ward ME, Fratta P. Mehta PR, et al. Mol Neurodegener. 2023 Mar 15;18(1):16. doi: 10.1186/s13024-023-00608-5. Mol Neurodegener. 2023. PMID: 36922834 Free PMC article. Review.
Tulipoid Hair: Anagen Effluvium Marker!
Malakar SS, Mehta PR, Malakar SS. Malakar SS, et al. Among authors: mehta pr. Int J Trichology. 2018 Jul-Aug;10(4):188-190. doi: 10.4103/ijt.ijt_98_17. Int J Trichology. 2018. PMID: 30386082 Free PMC article. No abstract available.
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: mehta pr. Nat Commun. 2024 Jul 2;15(1):5560. doi: 10.1038/s41467-024-49938-y. Nat Commun. 2024. PMID: 38956107 Free PMC article. No abstract available.
COVID-19, SARS and MERS: A neurological perspective.
Ng Kee Kwong KC, Mehta PR, Shukla G, Mehta AR. Ng Kee Kwong KC, et al. Among authors: mehta pr. J Clin Neurosci. 2020 Jul;77:13-16. doi: 10.1016/j.jocn.2020.04.124. Epub 2020 May 5. J Clin Neurosci. 2020. PMID: 32417124 Free PMC article. Review.
84 results