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Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.
Arntsen V, Jamali A, Sikiric A, Kristensen E, Tangeraas T, Kupliauskiene G, Stefansdottir S, Bindoff LA, Sand T, Brodtkorb E. Arntsen V, et al. Among authors: tangeraas t. Front Neurol. 2024 Feb 14;15:1355861. doi: 10.3389/fneur.2024.1355861. eCollection 2024. Front Neurol. 2024. PMID: 38419708 Free PMC article.
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.
Kristensen E, Mathisen L, Berland S, Klingenberg C, Brodtkorb E, Rasmussen M, Tangeraas T, Bliksrud YT, Rahman S, Bindoff LA, Hikmat O. Kristensen E, et al. Among authors: tangeraas t. Ann Clin Transl Neurol. 2024 Jun 7. doi: 10.1002/acn3.52088. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38845467 Free article.
Status epilepticus in POLG disease: a large multinational study.
Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA. Hikmat O, et al. Among authors: tangeraas t. J Neurol. 2024 Jun 1. doi: 10.1007/s00415-024-12463-5. Online ahead of print. J Neurol. 2024. PMID: 38822839
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: tangeraas t. Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647. Epub 2023 Jul 7. Mol Genet Metab. 2023. PMID: 37453860 No abstract available.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: tangeraas t. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099].
Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E. Jamali A, et al. Among authors: tangeraas t. Epilepsy Res. 2023 Dec;198:107113. doi: 10.1016/j.eplepsyres.2023.107113. Epub 2023 Mar 9. Epilepsy Res. 2023. PMID: 36906427 No abstract available.
42 results