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Year Number of Results
2015 1
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2021 4
2022 3
2023 3
2024 2

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Page 1
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.
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. 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.
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
Lange LM, Avenali M, Ellis M, Illarionova A, Keller Sarmiento IJ, Tan AH, Madoev H, Galandra C, Junker J, Roopnarain K, Solle J, Wegel C, Fang ZH, Heutink P, Kumar KR, Lim SY, Valente EM, Nalls M, Blauwendraat C, Singleton A, Mencacci N, Lohmann K, Klein C; Global Parkinson’s Genetic Program (GP2). Lange LM, et al. Among authors: keller sarmiento ij. NPJ Parkinsons Dis. 2023 Jun 27;9(1):100. doi: 10.1038/s41531-023-00526-9. NPJ Parkinsons Dis. 2023. PMID: 37369645 Free PMC article.
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
Lange LM, Avenali M, Ellis M, Illarionova A, Keller Sarmiento IJ, Tan AH, Madoev H, Galandra C, Junker J, Roopnarain K, Solle J, Wegel C, Fang ZH, Heutink P, Kumar KR, Lim SY, Valente EM, Nalls M, Blauwendraat C, Singleton A, Mencacci N, Lohmann K, Klein C; Global Parkinson’s Genetic Program (GP2). Lange LM, et al. Among authors: keller sarmiento ij. NPJ Parkinsons Dis. 2023 Sep 13;9(1):133. doi: 10.1038/s41531-023-00560-7. NPJ Parkinsons Dis. 2023. PMID: 37704671 Free PMC article. No abstract available.
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. 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
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.
13 results