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Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R; Undiagnosed Diseases Network; Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. Diaz F, et al. Ann Clin Transl Neurol. 2020 Nov;7(11):2320-2325. doi: 10.1002/acn3.51209. Epub 2020 Oct 15. Ann Clin Transl Neurol. 2020. PMID: 33058507 Free PMC article.
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
Otero MG, Tiongson E, Diaz F, Haude K, Panzer K, Collier A, Kim J, Adams D, Tifft CJ, Cui H, Millian Zamora F, Au MG, Graham JM Jr, Buckley DJ, Lewis R, Toro C, Bai R, Turner L, Mathews KD, Gahl W, Pierson TM. Otero MG, et al. Among authors: diaz f. Ann Clin Transl Neurol. 2018 Nov 9;6(1):154-160. doi: 10.1002/acn3.661. eCollection 2019 Jan. Ann Clin Transl Neurol. 2018. PMID: 30656193 Free PMC article.
Adaptive Platform Trials to Transform Amyotrophic Lateral Sclerosis Therapy Development.
Paganoni S, Berry JD, Quintana M, Macklin E, Saville BR, Detry MA, Chase M, Sherman AV, Yu H, Drake K, Andrews J, Shefner J, Chibnik LB, Vestrucci M, Cudkowicz ME; Healey ALS Platform Trial Study Group. Paganoni S, et al. Ann Neurol. 2022 Feb;91(2):165-175. doi: 10.1002/ana.26285. Epub 2022 Jan 10. Ann Neurol. 2022. PMID: 34935174 Review.
Design and Statistical Innovations in a Platform Trial for Amyotrophic Lateral Sclerosis.
Quintana M, Saville BR, Vestrucci M, Detry MA, Chibnik L, Shefner J, Berry JD, Chase M, Andrews J, Sherman AV, Yu H, Drake K, Cudkowicz M, Paganoni S, Macklin EA; HEALEY ALS Platform Trial Study Group. Quintana M, et al. Ann Neurol. 2023 Sep;94(3):547-560. doi: 10.1002/ana.26714. Epub 2023 Jun 22. Ann Neurol. 2023. PMID: 37245090
Transplantation of human neural progenitor cells secreting GDNF into the spinal cord of patients with ALS: a phase 1/2a trial.
Baloh RH, Johnson JP, Avalos P, Allred P, Svendsen S, Gowing G, Roxas K, Wu A, Donahue B, Osborne S, Lawless G, Shelley B, Wheeler K, Prina C, Fine D, Kendra-Romito T, Stokes H, Manoukian V, Muthukumaran A, Garcia L, Bañuelos MG, Godoy M, Bresee C, Yu H, Drazin D, Ross L, Naruse R, Babu H, Macklin EA, Vo A, Elsayegh A, Tourtellotte W, Maya M, Burford M, Diaz F, Patil CG, Lewis RA, Svendsen CN. Baloh RH, et al. Among authors: diaz f. Nat Med. 2022 Sep;28(9):1813-1822. doi: 10.1038/s41591-022-01956-3. Epub 2022 Sep 5. Nat Med. 2022. PMID: 36064599 Free PMC article. Clinical Trial.
pH-responsive targeted nanoparticles release ERK-inhibitor in the hypoxic zone and sensitize free gemcitabine in mutant K-Ras-addicted pancreatic cancer cells and mouse model.
Dutta D, Ray P, De A, Ghosh A, Hazra RS, Ghosh P, Banerjee S, Diaz FJ, Upadhyay SP, Quadir M, Banerjee SK. Dutta D, et al. Among authors: diaz fj. PLoS One. 2024 Apr 30;19(4):e0297749. doi: 10.1371/journal.pone.0297749. eCollection 2024. PLoS One. 2024. PMID: 38687749 Free PMC article.
Validation of the Dominican system for measuring early childhood development.
Sánchez-Vincitore LV, Alonso Pellerano MA, Valdez ME, Jiménez AS, Ruiz-Matuk CB, Castro A, Díaz F, Cubilla-Bonnetier D. Sánchez-Vincitore LV, et al. Among authors: diaz f. F1000Res. 2024 Jan 29;12:279. doi: 10.12688/f1000research.128657.2. eCollection 2023. F1000Res. 2024. PMID: 38655207 Free PMC article.
1,545 results