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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: limbachiya n. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
Blauwendraat C, Tayebi N, Woo EG, Lopez G, Fierro L, Toffoli M, Limbachiya N, Hughes D, Pitz V, Patel D, Vitale D, Koretsky MJ, Hernandez D, Real R, Alcalay RN, Nalls MA, Morris HR, Schapira AHV, Balwani M, Sidransky E. Blauwendraat C, et al. Among authors: limbachiya n. Mov Disord. 2023 May;38(5):899-903. doi: 10.1002/mds.29342. Epub 2023 Mar 3. Mov Disord. 2023. PMID: 36869417 Free PMC article.
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.
Toffoli M, Chohan H, Mullin S, Jesuthasan A, Yalkic S, Koletsi S, Menozzi E, Rahall S, Limbachiya N, Loefflad N, Higgins A, Bestwick J, Lucas-Del-Pozo S, Fierli F, Farbos A, Mezabrovschi R, Lee-Yin C, Schrag A, Moreno-Martinez D, Hughes D, Noyce A, Colclough K, Jeffries AR, Proukakis C, Schapira AHV. Toffoli M, et al. Among authors: limbachiya n. Neurobiol Dis. 2023 Nov;188:106343. doi: 10.1016/j.nbd.2023.106343. Epub 2023 Nov 3. Neurobiol Dis. 2023. PMID: 37926171 Free article.