Items where authors include "Beauchamp, N."

Article

Currò, R., Dominik, N., Facchini, S. et al. (155 more authors) (2024) Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain, 147 (5). pp. 1887-1898. ISSN 0006-8950

Hadjivassiliou, M. orcid.org/0000-0003-2542-8954, Currò, R., Beauchamp, N. et al. (6 more authors) (2024) Can CANVAS due to RFC1 biallelic expansions present with pure ataxia? Journal of Neurology, Neurosurgery & Psychiatry, 95 (2). pp. 171-174. ISSN 0022-3050

Shepheard, S.R., Parker, M.D. orcid.org/0000-0003-2999-3870, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (15 more authors) (2021) Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, 92 (5). pp. 510-518. ISSN 0022-3050

Proceedings Paper

Hewamadduma, C.A., Omalley, R., Robinson, M. et al. (7 more authors) (2017) Mutations in SPG7 as an important cause of spastic-ataxia in a large british cohort: Hybrid phenotype helps direct screening. In: Journal of the Neurological Sciences. World Congress of Neurology (WCN 2017), 16-21 Sep 2017, Kyoto, Japan. Elsevier , pp. 304-305.