King's College London

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Project MinE ALS Sequencing Consortium, 1 Dec 2020, In: Cell Reports. 33, 9, 108456.

Research output: Contribution to journal › Article › peer-review

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

QT Syndrome Collaboration, 28 Jul 2020, In: Circulation. 142, 4, p. 324-338 15 p.

Research output: Contribution to journal › Article › peer-review

UK Case control study of smoking and risk of Amyotrophic Lateral Sclerosis

Martin, S. C., Jones, A. R., Iacoangeli, A., Al Khleifat, A., Oumar, M., Shaw, P. J., Shaw, C. E. D., Morrison, K. E., Wootton, R. E., Smith, G. D., Pearce, N. & Al-Chalabi, A., 17 Apr 2020, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 21, 3-4, p. 222-227 6 p.

Research output: Contribution to journal › Article › peer-review

The use of biotelemetry to explore disease progression markers in amyotrophic lateral sclerosis

Kelly, M., Lavrov, A., Garcia-Gancedo, L., Parr, J., Hart, R., Chiwera, T., Shaw, C. E., Al-Chalabi, A., Marsden, R., Turner, M. R. & Talbot, K., 2020, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 21, 7-8, p. 563-573 11 p.

Research output: Contribution to journal › Article › peer-review

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

ALSGENS Consortium, FALS Consortium, Project MinE Consortium, CReATe Consortium, Farhan, S. M. K., Howrigan, D. P., Abbott, L. E., Klim, J. R., Topp, S. D., Byrnes, A. E., Churchhouse, C., Phatnani, H., Smith, B. N., Rampersaud, E., Wu, G., Wuu, J., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Mordes, D. A. & 19 others, Ghosh, S., Eggan, K., Rademakers, R., McCauley, J. L., Schüle, R., Züchner, S., Benatar, M., Taylor, J. P., Nalls, M., Gotkine, M., Shaw, P. J., Morrison, K. E., Al-Chalabi, A., Traynor, B., Shaw, C. E., Goldstein, D. B., Harms, M. B., Daly, M. J. & Neale, B. M., 1 Dec 2019, In: Nature Neuroscience. 22, 12, p. 1966-1974 9 p.

Research output: Contribution to journal › Article › peer-review

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

the Australian Imaging Biomarkers and Lifestyle study & The Alzheimer’s Disease Neuroimaging Initiative, Dec 2021, In: Genome Biology. 22, 1, 90.

Research output: Contribution to journal › Article › peer-review

Demystifying the spontaneous phenomena of motor hyperexcitability

Bashford, J., Chan, W. K., Freitas Barbosa Pereira Coutinho, M. E., Norwood, F., Mills, K. & Shaw, C., Aug 2021, In: Clinical Neurophysiology. 132, 8, p. 1830-1844 15 p.

Research output: Contribution to journal › Review article › peer-review

First-recruited motor units adopt a faster phenotype in amyotrophic lateral sclerosis

Bashford, J., Weddell, T., Wickham, A., Iniesta, R., Chen, M., Zhou, P., Drakakis, E., Boutelle, M., Mills, K. & Shaw, C., 4 Jul 2021, (Accepted/In press) In: Journal of Physiology.

Research output: Contribution to journal › Article › peer-review

Does genetic anticipation occur in familial Alexander disease?

Hunt, C. K., Al Khleifat, A., burchill, E., Ederle, J., Al-Chalabi, A. & Sreedharan, J., Jul 2021, In: NEUROGENETICS. 22, 3, p. 215-219 5 p.

Research output: Contribution to journal › Article › peer-review

A multicentre validation study of the diagnostic value of plasma neurofilament light

Ashton, N. J., Janelidze, S., Al Khleifat, A., Leuzy, A., van der Ende, E. L., Karikari, T. K., Benedet, A. L., Pascoal, T. A., Lleó, A., Parnetti, L., Galimberti, D., Bonanni, L., Pilotto, A., Padovani, A., Lycke, J., Novakova, L., Axelsson, M., Velayudhan, L., Rabinovici, G. D., Miller, B. & 21 others, Pariante, C., Nikkheslat, N., Resnick, S. M., Thambisetty, M., Schöll, M., Fernández-Eulate, G., Gil-Bea, F. J., López de Munain, A., Al-Chalabi, A., Rosa-Neto, P., Strydom, A., Svenningsson, P., Stomrud, E., Santillo, A., Aarsland, D., van Swieten, J. C., Palmqvist, S., Zetterberg, H., Blennow, K., Hye, A. & Hansson, O., 7 Jun 2021, In: Nature Communications. 12, 1, p. 3400 3400.

Research output: Contribution to journal › Article › peer-review

Impaired connectivity within neuromodulatory networks in multiple sclerosis and clinical implications

Carotenuto, A., Wilson, H., Giordano, B., Caminiti, S. P., Chappell, Z., Williams, S. C. R., Hammers, A., Silber, E., Brex, P. & Politis, M., 1 Jul 2020, In: Journal of Neurology. 267, 7, p. 2042-2053 12 p.

Research output: Contribution to journal › Article › peer-review

Neuroimaging in Lewy body dementia

Yousaf, T., Dervenoulas, G., Valkimadi, P-E. & Politis, M., 14 May 2018, In: Journal of Neurology. p. 1-26

Research output: Contribution to journal › Review article › peer-review

Effects of motor rehabilitation on mobility and brain plasticity in multiple sclerosis: a structural and functional MRI study

Tavazzi, E., Bergsland, N., Cattaneo, D., Gervasoni, E., Lagana', M. M., Dipasquale, O., Grosso, C., Saibene, F. L., Baglio, F. & Rovaris, M., 2018, In: Journal of Neurology.

Research output: Contribution to journal › Article › peer-review

Macdonald Critchley (1900–1997)

Sandrone, S. & van Gijn, J., 21 Nov 2017, (Accepted/In press) In: Journal of Neurology. p. 1-2 2 p.

Research output: Contribution to journal › Article › peer-review

An update on migraine: current understanding and future directions

Puledda, F., Messina, R. & Goadsby, P. J., 1 Sep 2017, In: Journal of Neurology. 264, 9, p. 2031-2039 9 p.

Research output: Contribution to journal › Article › peer-review