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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: tochen l. 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: tochen l. 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.
Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.
Gavazzi F, Fraser JL, Bloom M, Tochen L, Rhee J, Kwan M, Victoria T, Teachey DT, Ho CY, Vanderver A, Linn RL. Gavazzi F, et al. Among authors: tochen l. Pediatr Blood Cancer. 2022 Jan;69(1):e29322. doi: 10.1002/pbc.29322. Epub 2021 Sep 7. Pediatr Blood Cancer. 2022. PMID: 34490982 No abstract available.
A multi-disciplinary clinic for SCN8A-related epilepsy.
Schreiber JM, Tochen L, Brown M, Evans S, Ball LJ, Bumbut A, Thewamit R, Whitehead MT, Black C, Boutzoukas E, Fanto E, Suslovic W, Berl M, Hammer M, Gaillard WD. Schreiber JM, et al. Among authors: tochen l. Epilepsy Res. 2020 Jan;159:106261. doi: 10.1016/j.eplepsyres.2019.106261. Epub 2019 Dec 23. Epilepsy Res. 2020. PMID: 31887642
Anomalous Putamen Volume in Children With Complex Motor Stereotypies.
Mahone EM, Crocetti D, Tochen L, Kline T, Mostofsky SH, Singer HS. Mahone EM, et al. Among authors: tochen l. Pediatr Neurol. 2016 Dec;65:59-63. doi: 10.1016/j.pediatrneurol.2016.08.023. Epub 2016 Sep 8. Pediatr Neurol. 2016. PMID: 27751663 Free PMC article.
The Phenomenology of Tics and Tic-Like Behavior in TikTok.
Zea Vera A, Bruce A, Garris J, Tochen L, Bhatia P, Lehman RK, Lopez W, Wu SW, Gilbert DL. Zea Vera A, et al. Among authors: tochen l. Pediatr Neurol. 2022 May;130:14-20. doi: 10.1016/j.pediatrneurol.2022.02.003. Epub 2022 Feb 26. Pediatr Neurol. 2022. PMID: 35303587
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