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Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C; DDD Study,; Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G. Gauquelin L, et al. Among authors: thakur n. Neurol Genet. 2019 Oct 30;5(6):e369. doi: 10.1212/NXG.0000000000000369. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042905 Free PMC article.
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Gavazzi F, Pierce SR, Vithayathil J, Cunningham K, Anderson K, McCann J, Moll A, Muirhead K, Sherbini O, Prange E, Dubbs H, Tochen L, Fraser J, Helbig I, Lewin N, Thakur N, Adang LA. Gavazzi F, et al. Among authors: thakur n. Mol Genet Metab. 2022 Sep-Oct;137(1-2):26-32. doi: 10.1016/j.ymgme.2022.07.009. Epub 2022 Jul 20. Mol Genet Metab. 2022. PMID: 35878504 Free PMC article.
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Klopstock T, Videnovic A, Bischoff AT, Bonnet C, Cif L, Comella C, Correa-Vela M, Escolar ML, Fraser JL, Gonzalez V, Hermanowicz N, Jech R, Jinnah HA, Kmiec T, Lang A, Martí MJ, Mercimek-Andrews S, Monduy M, Nimmo GAM, Perez-Dueñas B, Pfeiffer HCV, Planellas L, Roze E, Thakur N, Tochen L, Vanegas-Arroyave N, Zorzi G, Burns C, Greblikas F. Klopstock T, et al. Among authors: thakur n. Mov Disord. 2021 Jun;36(6):1342-1352. doi: 10.1002/mds.28392. Epub 2020 Nov 16. Mov Disord. 2021. PMID: 33200489 Free PMC article. Clinical Trial.
Autologous cellular therapy for cerebral palsy: a randomized, crossover trial.
Cox CS Jr, Juranek J, Kosmach S, Pedroza C, Thakur N, Dempsey A, Rennie K, Scott MC, Jackson M, Kumar A, Aertker B, Caplan H, Triolo F, Savitz SI. Cox CS Jr, et al. Among authors: thakur n. Brain Commun. 2022 May 20;4(3):fcac131. doi: 10.1093/braincomms/fcac131. eCollection 2022. Brain Commun. 2022. PMID: 35702731 Free PMC article.
Olfactory Dysfunction in Huntington's Disease.
Patino J, Karagas NE, Chandra S, Thakur N, Stimming EF. Patino J, et al. Among authors: thakur n. J Huntingtons Dis. 2021;10(4):413-422. doi: 10.3233/JHD-210497. J Huntingtons Dis. 2021. PMID: 34719504 Free PMC article. Review.
A curious case of the vanishing bone disease: Anesthesia management.
Walavalkar DS, Kane D, Devalkar P, Chandan R, Thakur N. Walavalkar DS, et al. Among authors: thakur n. J Anaesthesiol Clin Pharmacol. 2024 Jan-Mar;40(1):171-172. doi: 10.4103/joacp.joacp_195_22. Epub 2024 Feb 8. J Anaesthesiol Clin Pharmacol. 2024. PMID: 38666158 Free PMC article. No abstract available.
658 results