Items where authors include "Houlden, H."

Article

Ni, C., Wei, Y., Vona, B. et al. (53 more authors) (2025) A programmed decline in ribosome levels governs human early neurodevelopment. Nature Cell Biology, 27. pp. 1240-1255. ISSN 1465-7392

Poleg, T., Hadar, N., Kristal, E. et al. (19 more authors) (2025) Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B. Movement Disorders. ISSN 0885-3185

Chelban, V. orcid.org/0000-0002-7797-0756, Pellerin, D., Vijiaratnam, N. orcid.org/0000-0002-9671-0212 et al. (50 more authors) (2025) Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy. Brain. ISSN 0006-8950

Aughey, G.N., Cali, E., Maroofian, R. orcid.org/0000-0001-6763-1542 et al. (53 more authors) (2025) Clinical and genetic characterization of a progressive RBL2 associated neurodevelopmental disorder. Brain, 148 (4). pp. 1194-1211. ISSN 0006-8950

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

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., Sarraf, P., O'Brien, T.J. et al. (30 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

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

Chen, Z., Reynolds, R.H., Pardiñas, A.F. et al. (23 more authors) (2023) The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases. Neurobiology of Disease, 180. 106082. ISSN 0969-9961

Saida, K., Maroofian, R., Sengoku, T. et al. (84 more authors) (2023) Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine, 25 (1). pp. 90-102. ISSN 1098-3600

Rosenhahn, E., O’Brien, T.J., Zaki, M.S. et al. (44 more authors) (2022) Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. American Journal of Human Genetics, 109 (8). pp. 1421-1435. ISSN 0002-9297

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