Affiliation: University of Toronto
Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D, et al
. Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology. 2014;83:1476-8 pubmed publisher
Zhang M, Xi Z, Zinman L, Bruni A, Maletta R, Curcio S, et al
. Mutation analysis of CHCHD10 in different neurodegenerative diseases. Brain. 2015;138:e380 pubmed publisher
McGoldrick P, Zhang M, van Blitterswijk M, Sato C, Moreno D, Xiao S, et al
. Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression. Neurology. 2018;90:e323-e331 pubmed publisher
..g., 21% among Finnish patients with ALS). Caution should be taken when consulting carriers of small expansions because disease manifestation could be dependent on the extent of the somatic instability in disease-relevant tissues. ..
Rogaeva E. The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease. Neuromolecular Med. 2002;2:1-10 pubmed
..This review provides an update on the pathological consequences of mutations in early-onset AD genes, the phenotypic heterogeneity of those cases, and future directions for research and clinical practice. ..
Xi Z, Rainero I, Rubino E, Pinessi L, Bruni A, Maletta R, et al
. Hypermethylation of the CpG-island near the C9orf72 Gâ‚„Câ‚‚-repeat expansion in FTLD patients. Hum Mol Genet. 2014;23:5630-7 pubmed publisher
..09). In conclusion, we demonstrated that hypermethylation of the CpG-island 5'of the Gâ‚„Câ‚‚-repeat is expansion-specific, but not syndrome-specific (ALS versus FTLD). ..
Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean J, Yunusova Y, et al
. Jump from pre-mutation to pathologic expansion in C9orf72. Am J Hum Genet. 2015;96:962-70 pubmed publisher
..Follow-up studies might help explain the high frequency of ALS- or FTLD-affected individuals with an expansion but without a familial history (e.g., 21% among Finnish ALS subjects). ..
Zhang M, Tartaglia M, Moreno D, Sato C, McKeever P, Weichert A, et al
. DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients. Acta Neuropathol. 2017;134:271-279 pubmed publisher
..In conclusion, DNA methylation analysis of C9orf72 patients revealed that increased DNAm age-acceleration is associated with a more severe disease phenotype with a shorter disease duration and earlier age of onset. ..
Ghani M, Lang A, Zinman L, Nacmias B, Sorbi S, Bessi V, et al
. Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiol Aging. 2015;36:545.e9-14 pubmed publisher
..R1514Q in 6 of 98 patients with Parkinson's disease (6.1%). In conclusion, NeuroX appears to be helpful for rapid and accurate mutation screening, although further development may be still required to improve some current caveats. ..
Ghani M, Sato C, Kakhki E, Gibbs J, Traynor B, St George Hyslop P, et al
. Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set. Neurobiol Aging. 2016;42:217.e7-217.e13 pubmed publisher