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Page 1
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Among authors: fatemi a. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 Free PMC article.
A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy.
Van Haren KP, Cunanan K, Awani A, Gu M, Peña D, Chromik LC, Považan M, Rossi NC, Goodman J, Sundaram V, Winterbottom J, Raymond GV, Cowan T, Enns GM, Waubant E, Steinman L, Barker PB, Spielman D, Fatemi A. Van Haren KP, et al. Among authors: fatemi a. Neurol Genet. 2023 Mar 31;9(2):e200061. doi: 10.1212/NXG.0000000000200061. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090939 Free PMC article.
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
Schoenmakers DH, Leferink PS, Vanderver A, Bonkowsky JL, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Fogel BL, Wolf NI, Skwirut D, Buck A, Holberg B, Saunier-Vivar EF, Rauner R, Dekker H, van Bokhoven P, Stellingwerff MD, Berkhof J, van der Knaap MS. Schoenmakers DH, et al. Among authors: fatemi a. BMC Neurol. 2023 Aug 17;23(1):305. doi: 10.1186/s12883-023-03354-9. BMC Neurol. 2023. PMID: 37592248 Free PMC article.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Among authors: fatemi a. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875 Free PMC article.
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group. Köhler W, et al. Among authors: fatemi a. Lancet Neurol. 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. Lancet Neurol. 2023. PMID: 36681445 Clinical Trial.
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A. Adang LA, et al. Among authors: fatemi a. Mol Genet Metab. 2024 May;142(1):108453. doi: 10.1016/j.ymgme.2024.108453. Epub 2024 Mar 18. Mol Genet Metab. 2024. PMID: 38522179 Review.
298 results