Items where authors include "Silani, V."

Article

Iacoangeli, A. orcid.org/0000-0002-5280-5017, Dilliott, A.A., Al Khleifat, A. et al. (30 more authors) (2025) Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications. Journal of Neurology, Neurosurgery & Psychiatry. ISSN 0022-3050

Saez-Atienzar, S., Souza, C.D.S., Chia, R. et al. (323 more authors) (2024) Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data. Cell Genomics, 4 (11). 100679. ISSN 2666-979X

Marriott, H. orcid.org/0000-0003-1231-2880, Spargo, T.P., Al Khleifat, A. orcid.org/0000-0002-7406-9831 et al. (26 more authors) (2024) Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS. Annals of Clinical and Translational Neurology, 11 (7). pp. 1775-1786. ISSN 2328-9503

Taş, G. orcid.org/0009-0008-2409-0246, Westerdijk, T., Postma, E. et al. (87 more authors) (2024) Computing linkage disequilibrium aware genome embeddings using autoencoders. Bioinformatics, 40 (6). btae326. ISSN 1367-4803

Van Damme, P. orcid.org/0000-0002-4010-2357, Al‐Chalabi, A. orcid.org/0000-0002-4924-7712, Andersen, P.M. et al. (17 more authors) (2024) European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD). European Journal of Neurology, 31 (6). e16264. ISSN 1351-5101

Lombardo, F.L. orcid.org/0000-0001-6183-0735, Spila Alegiani, S., Mayer, F. et al. (93 more authors) (2023) A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial. Trials, 24 (1). 792. ISSN 1468-6708

Van Daele, S.H. orcid.org/0000-0002-3005-3619, Moisse, M., van Vugt, J.J.F.A. orcid.org/0000-0002-4161-4004 et al. (31 more authors) (2023) Genetic variability in sporadic amyotrophic lateral sclerosis. Brain, 146 (9). pp. 3760-3769. ISSN 0006-8950

Adey, B.N., Cooper-Knock, J., Al Khleifat, A. et al. (30 more authors) (2023) Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival. Frontiers in Cellular Neuroscience, 17. 1112405. ISSN 1662-5102

Al Khleifat, A., Iacoangeli, A., Jones, A.R. et al. (42 more authors) (2022) Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Frontiers in Cellular Neuroscience, 16. 1050596. ISSN 1662-5102

Mehta, P.R. orcid.org/0000-0002-0255-407X, Iacoangeli, A. orcid.org/0000-0002-5280-5017, Opie-Martin, S. et al. (31 more authors) (2022) The impact of age on genetic testing decisions in amyotrophic lateral sclerosis. Brain, 145 (12). pp. 4440-4447. ISSN 0006-8950

Opie-Martin, S., Iacoangeli, A., Topp, S.D. et al. (46 more authors) (2022) The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. Nature Communications, 13 (1). 6901. ISSN 2041-1723

Hop, P.J. orcid.org/0000-0002-9007-7436, Zwamborn, R.A.J. orcid.org/0000-0003-3952-5042, Hannon, E. orcid.org/0000-0001-6840-072X et al. (151 more authors) (2022) Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine, 14 (633). eabj0264. ISSN 1946-6234

Al Khleifat, A., Iacoangeli, A., van Vugt, J.J.F.A. et al. (44 more authors) (2022) Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. npj Genomic Medicine, 7 (1). 8.

Moisse, M., Zwamborn, R.A.J., Vugt, J. et al. (33 more authors) (2021) The effect of SMN gene dosage on ALS risk and disease severity. Annals of Neurology, 89 (4). pp. 686-697. ISSN 0364-5134

van den Berg, L.H., Sorenson, E., Gronseth, G. et al. (20 more authors) (2019) Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials. Neurology, 92 (14). e1610-e1623. ISSN 0028-3878

Van Der Spek, R.A., Van Rheenen, W., Pulit, S.L. et al. (34 more authors) (2018) Reconsidering the causality of TIA1 mutations in ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , 19 (1-2). pp. 1-3. ISSN 2167-8421

de Majo, M., Topp, S.D., Smith, B.N. et al. (30 more authors) (2018) ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. Neurobiology of Aging, 71. 266.e1-266.e10.

Al-Chalabi, A. orcid.org/0000-0002-4924-7712, Andersen, P.M., Chandran, S. et al. (38 more authors) (2017) July 2017 ENCALS statement on edaravone. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18 (7-8). pp. 471-474. ISSN 2167-8421

Smith, B.N., Topp, S.D., Fallini, C. et al. (53 more authors) (2017) Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Translational Medicine, 9 (388). eaad9157. ISSN 1946-6234

McLaughlin, R.L., Schijven, D., van Rheenen, W. et al. (433 more authors) (2017) Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications, 8. 14774.

Strong, M.J., Abrahams, S., Goldstein, L.H. et al. (11 more authors) (2017) Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18 (3-4). pp. 153-174. ISSN 2167-8421

Kenna, K.P., van Doormaal, P.T.C., Dekker, A.M. et al. (92 more authors) (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics, 48 (9). pp. 1037-1042. ISSN 1061-4036

Fogh, I., Lin, K., Tiloca, C. et al. (46 more authors) (2016) Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. JAMA Neurology, 73 (7). pp. 812-820. ISSN 2168-6149

Oeckl, P., Jardel, C., Salachas, F. et al. (32 more authors) (2016) Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. pp. 1-10. ISSN 2167-8421

Lill, C.M., Rengmark, A., Pihlstrøm, L. et al. (49 more authors) (2015) The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease. Alzheimer's and Dementia, 11 (12). pp. 1407-1416. ISSN 1552-5260

Smith, B.N., Ticozzi, N., Fallini, C. et al. (63 more authors) (2014) Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron, 84 (2). pp. 324-331. ISSN 0896-6273