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The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S, Karamched S, Perocheau D, Seunarine KK, Baldwin T, Alrashidi H, Touramanidou L, Duff C, Elkhateeb N, Stepien KM, Sharma R, Morris A, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Batzios S, Davison J, Footitt E, Tuschl K, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Heales S, Mills PB, Gissen P, Clayden JD, Clark CA, Eaton S, Kalber TL, Baruteau J. Gurung S, et al. Among authors: tuschl k. J Inherit Metab Dis. 2024 Nov;47(6):1213-1227. doi: 10.1002/jimd.12691. Epub 2023 Dec 4. J Inherit Metab Dis. 2024. PMID: 38044746 Free PMC article.
SLC39A14 Deficiency.
Tuschl K, Gregory A, Meyer E, Clayton PT, Hayflick SJ, Mills PB, Kurian MA. Tuschl K, et al. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 May 25 [updated 2022 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 28541650 Free Books & Documents. Review.
Hypermanganesemia with Dystonia 1.
Tuschl K, Clayton PT, Gospe SM Jr, Mills PB. Tuschl K, et al. 2012 Aug 30 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Aug 30 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22934317 Free Books & Documents. Review.
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Mohammad SS, Angiti RR, Biggin A, Morales-Briceño H, Goetti R, Perez-Dueñas B, Gregory A, Hogarth P, Ng J, Papandreou A, Bhattacharya K, Rahman S, Prelog K, Webster RI, Wassmer E, Hayflick S, Livingston J, Kurian M, Chong WK, Dale RC; Basal Ganglia MRI Study Group. Mohammad SS, et al. Brain Commun. 2020 Oct 26;2(2):fcaa178. doi: 10.1093/braincomms/fcaa178. eCollection 2020. Brain Commun. 2020. PMID: 33629063 Free PMC article.
31 results