Evaluating the causality of novel sequence variants in the prion protein gene by example

Autor: Mok, Tze How, Koriath, Carolin, Jaunmuktane, Zane, Campbell, Tracy, Joiner, Susan, Wadsworth, Jonathan D.F., Hosszu, Laszlo L.P., Brandner, Sebastian, Parvez, Ambereen, Truelsen, Thomas Clement, Lund, Eva Løbner, Saha, Romi, Collinge, John, Mead, Simon

Publikováno v: In Neurobiology of Aging November 2018 71:265-265

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

Autor: Koriath, Carolin, Kenny, Joanna, Adamson, G, Druyeh, R, Tayler, W, Beck, J, Quinn, L, Mok, TH, Dimitriadis, A, Norsworthy, P, Bass, N, Carter, J, Kipps, Christopher, Coulthard, Liz, Polke, JM, Bernal-Quiros, M, Denning, N, Thomas, R, Raybould, R, Williams, J, Mummery, CJ, Wild, Edward, Houlden, H, Tabrizi, Sarah, Rossor, Martin, Hummerich, H, Warren, Jason, Rowe, James, Rohrer, John, Schott, John, Fox, Nick, Collinge, John, Mead, Simon

Publikováno v: Koriath, C, Kenny, J, Adamson, G, Druyeh, R, Tayler, W, Beck, J, Quinn, L, Mok, TH, Dimitriadis, A, Norsworthy, P, Bass, N, Carter, J, Kipps, C, Coulthard, L, Polke, JM, Bernal-Quiros, M, Denning, N, Thomas, R, Raybould, R, Williams, J, Mummery, CJ, Wild, E, Houlden, H, Tabrizi, S, Rossor, M, Hummerich, H, Warren, J, Rowe, J, Rohrer, J, Schott, J, Fox, N, Collinge, J & Mead, S 2018, ' Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series ', Molecular Psychiatry . https://doi.org/10.1038/s41380-018-0224-0

Next-generation genetic sequencing (NGS) technologies facilitate the screening of multiple genes linked to neurodegenerative dementia, but there is little guidance available about their use in clinical practice. Guidelines on which patients would mos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8b8672efb42e799f7920ef4847d354f8
https://www.repository.cam.ac.uk/handle/1810/283046

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The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report

Autor: Koriath, Carolin A.M., Bocchetta, Martina, Brotherhood, Emilie, Woollacott, Ione O.C., Norsworthy, Penny, Simón-Sánchez, Javier, Blauwendraat, Cornelis, Dick, Katrina M., Gordon, Elizabeth, Harding, Sophie R., Fox, Nick C., Crutch, Sebastian, Warren, Jason D., Revesz, Tamas, Lashley, Tammaryn, Mead, Simon, Rohrer, Jonathan D.

Publikováno v: In Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring 2017 6:75-81

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