Items where authors include "Houlden, H."

Article

Cipriani, V. orcid.org/0000-0002-0839-9955, Vestito, L. orcid.org/0000-0003-0008-936X, Magavern, E.F. orcid.org/0000-0003-0699-6411 et al. (58 more authors) (2025) Rare disease gene association discovery in the 100,000 Genomes Project. Nature. ISSN 0028-0836

Aughey, G.N., Cali, E., Maroofian, R. orcid.org/0000-0001-6763-1542 et al. (53 more authors) (2024) Clinical and genetic characterization of a progressive RBL2 associated neurodevelopmental disorder. Brain. ISSN 0006-8950

Towns, C. orcid.org/0000-0001-8418-6241, Fang, Z.-H. orcid.org/0000-0002-0225-8772, Tan, M.M.X. orcid.org/0000-0001-5835-669X et al. (79 more authors) (2024) Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease. npj Parkinson's Disease, 10. 188. ISSN 2373-8057

de Boni, L. orcid.org/0000-0001-7785-482X, Wallis, A., Hays Watson, A. et al. (24 more authors) (2024) Aggregation-resistant alpha-synuclein tetramers are reduced in the blood of Parkinson’s patients. EMBO Molecular Medicine, 16 (7). pp. 1657-1674. ISSN 1757-4676

Maroofian, R. orcid.org/0000-0001-6763-1542, Sarraf, P., O’Brien, T.J. et al. (29 more authors) (2024) RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain, 147 (7). pp. 2334-2343. ISSN 0006-8950

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

Saffari, A., Lau, T. orcid.org/0000-0003-0514-1729, Tajsharghi, H. et al. (98 more authors) (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146 (8). pp. 3273-3288. ISSN 0006-8950

Kousathanas, A. orcid.org/0000-0001-6265-6521, Pairo-Castineira, E. orcid.org/0000-0002-2423-3090, Rawlik, K. orcid.org/0000-0002-0010-370X et al. (2377 more authors) (2022) Whole-genome sequencing reveals host factors underlying critical COVID-19. Nature, 607. pp. 97-103. ISSN 0028-0836

Gilley, J., Jackson, O., Pipis, M. et al. (19 more authors) (2021) Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. eLife, 10. e70905. ISSN 2050-084X

Asi, Y.T., Simpson, J.E. orcid.org/0000-0002-3753-4271, Heath, P.R. orcid.org/0000-0002-8385-1438 et al. (5 more authors) (2014) Alpha-synuclein mRNA expression in oligodendrocytes in MSA. Glia, 62 (6). pp. 964-970. ISSN 0894-1491