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Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
Mencacci NE, Steel D, Magrinelli F, Hsu J, Keller Sarmiento IJ, Troncoso Schifferli M, Muñoz D, Stefanis L, Lubbe SJ, Wood NW, Kurian MA, Stamelou M. Mencacci NE, et al. Among authors: keller sarmiento ij. Mov Disord. 2021 Jun;36(6):1472-1473. doi: 10.1002/mds.28634. Mov Disord. 2021. PMID: 34145635 No abstract available.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S. Zech M, et al. Among authors: keller sarmiento ij. Mov Disord. 2022 Jan;37(1):137-147. doi: 10.1002/mds.28804. Epub 2021 Oct 1. Mov Disord. 2022. PMID: 34596301
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
Zorzi G, Keller Sarmiento IJ, Danti FR, Bustos BI, Invernizzi F, Panteghini C, Reale C, Garavaglia B, Chiapparini L, Lubbe SJ, Nardocci N, Mencacci NE. Zorzi G, et al. Among authors: keller sarmiento ij. Mov Disord. 2021 Jun;36(6):1461-1462. doi: 10.1002/mds.28547. Epub 2021 Feb 27. Mov Disord. 2021. PMID: 33638881 No abstract available.
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D. Nasca A, et al. Among authors: keller sarmiento ij. Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068. Brain. 2023. PMID: 36860166 Free PMC article.
Understanding monogenic Parkinson's disease at a global scale.
Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle J, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson’s Genetics Program (GP2). Junker J, et al. Among authors: keller sarmiento ij. medRxiv [Preprint]. 2024 Apr 9:2024.03.12.24304154. doi: 10.1101/2024.03.12.24304154. medRxiv. 2024. PMID: 38529492 Free PMC article. Preprint.
Rising evidence for neurological involvement in COVID-19 pandemic.
Calcagno N, Colombo E, Maranzano A, Pasquini J, Keller Sarmiento IJ, Trogu F, Silani V. Calcagno N, et al. Among authors: keller sarmiento ij. Neurol Sci. 2020 Jun;41(6):1339-1341. doi: 10.1007/s10072-020-04447-w. Epub 2020 May 12. Neurol Sci. 2020. PMID: 32394275 Free PMC article. Review. No abstract available.
15 results