All Outputs (3)

A comprehensive screening of copy-number variability in dementia with Lewy bodies (2018)
Journal Article
Kun-Rodrigues, C., Orme, T., Carmona, S., Hernandez, D. G., Ross, O. A., Eicher, J. D., Shepherd, C., Parkkinen, L., Darwent, L., Heckman, M. G., Scholz, S. W., Troncoso, J. C., Pletnikova, O., Ansorge, O., Clarimon, J., Lleo, A., Morenas-Rodriguez, E., Clark, L., Honig, L. S., Marder, K., …Bras, J. (2019). A comprehensive screening of copy-number variability in dementia with Lewy bodies. Neurobiology of Aging, 75, 223.e1-223.e10. https://doi.org/10.1016/j.neurobiolaging.2018.10.019

The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable, however data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole genome genotyping of 1,454 DLB cases and 1,525 controls t... Read More about A comprehensive screening of copy-number variability in dementia with Lewy bodies.

A comprehensive assessment of benign genetic variability for neurodegenerative disorders (2018)
Journal Article
Guerreiro, R., Sassi, C., Gibbs, J., Edsall, C., Hernandez, D., Brown, K., Lupton, M., Parkinnen, L., Ansorge, O., Hodges, A., Ryten, M., Tienari, P., Van Deerlin, V., Trojanowski, J., Morgan, K., Powell, J., Singleton, A., Hardy, J., & Bras, J. (2018). A comprehensive assessment of benign genetic variability for neurodegenerative disorders. https://doi.org/10.1101/270686

Over the last few years, as more and more sequencing studies have been performed, it has become apparent that the identification of pathogenic mutations is, more often than not, a complex issue. Here, with a focus on neurodegenerative diseases, we ha... Read More about A comprehensive assessment of benign genetic variability for neurodegenerative disorders.

Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3 (2018)
Journal Article
Sassi, C., Nalls, M., Ridge, P., Gibbs, R., Lupton, M., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K., Medway, C., Lord, J., Turton, J., Bras, J., Blumenau, S., Thielke, M., Josties, C., Freyer, D., Dietrich, A., Hammer, M., Baier, M., …Hardy, J. (in press). Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3. Neurobiology of Aging, 66, Article 179.e17-179.e29. https://doi.org/10.1016/j.neurobiolaging.2018.01.015

Mendelian adult-onset leukodystrophies are a spectrum of rare inherited progressive neurodegenerative disorders affecting the white matter of the central nervous system. Among these, Cerebral Autosomal Dominant and Recessive Arteriopathy with Subcort... Read More about Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3.