Items where authors include "Hardiman, O."

Article

Murray, D. orcid.org/0000-0002-4314-4480, Rooney, J. orcid.org/0000-0001-6346-0731, Meldrum, D. orcid.org/0000-0002-7732-3591 et al. (18 more authors) (2025) Respiratory measurements, respiratory symptoms, and quality of life in ALS: results from the REVEALS study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421

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

Rooney, J. orcid.org/0000-0001-6346-0731, Murray, D. orcid.org/0000-0002-4314-4480, Meldrum, D. orcid.org/0000-0002-7732-3591 et al. (18 more authors) (2024) REVEALS—a longitudinal cohort study of multifaceted respiratory assessment in ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 25 (7-8). pp. 661-671. ISSN 2167-8421

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

McFarlane, R., Galvin, M., Heverin, M. et al. (19 more authors) (2023) PRECISION ALS—an integrated pan European patient data platform for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24 (5-6). pp. 389-393. ISSN 2167-8421

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

Helleman, J., Johnson, B., Holdom, C. et al. (12 more authors) (2022) Patient perspectives on digital healthcare technology in care and clinical trials for motor neuron disease : an international survey. Journal of Neurology, 269 (11). pp. 6003-6013. ISSN 0340-5354

Albanese, A., Ludolph, A.C., McDermott, C.J. orcid.org/0000-0002-1269-9053 et al. (7 more authors) (2022) Tauroursodeoxycholic acid in patients with amyotrophic lateral sclerosis: the TUDCA-ALS trial protocol. Frontiers in Neurology, 13. 1009113. ISSN 1664-2295

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.

van Eijk, R.P.A., Nikolakopoulos, S., Roes, K.C.B. et al. (14 more authors) (2021) Innovating clinical trials for amyotrophic lateral sclerosis : challenging the established order. Neurology, 97 (11). pp. 528-536. ISSN 0028-3878

van Eijk, R.P.A., Beelen, A., Kruitwagen, E.T. et al. (16 more authors) (2021) A road map for remote digital health technology for motor neuron disease. Journal of Medical Internet Research, 23 (9). e28766. ISSN 1438-8871

Conroy, É., Kennedy, P., Heverin, M. et al. (8 more authors) (2021) Informal caregivers in amyotrophic lateral sclerosis : a multi-centre, exploratory study of burden and difficulties. Brain Sciences, 11 (8). 1094.

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

Hop, P.J., Zwamborn, R.A.J., Hannon, E.J. et al. (17 more authors) (2020) Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies. NAR Genomics and Bioinformatics, 2 (4). lqaa105. ISSN 2631-9268

van Eijk, R.P.A., Kliest, T., McDermott, C.J. orcid.org/0000-0002-1269-9053 et al. (12 more authors) (2020) TRICALS: creating a highway toward a cure. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (7-8). pp. 496-501. ISSN 2167-8421

Franklin, J.P., Cooper-Knock, J., Baheerathan, A. et al. (6 more authors) (2020) Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (7-8). pp. 627-630. ISSN 2167-8421

Tazelaar, G.H.P., Boeynaems, S., De Decker, M. et al. (35 more authors) (2020) ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization. Brain Communications, 2 (2). fcaa064. ISSN 2632-1297

Reichenstein, I., Eitan, C., Diaz-Garcia, S. et al. (42 more authors) (2019) Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Science Translational Medicine, 11 (523). eaav5264. ISSN 1946-6234

Al-Chalabi, A., Shaw, P. orcid.org/0000-0002-8925-2567, Leigh, P.N. et al. (6 more authors) (2019) Oral levosimendan in amyotrophic lateral sclerosis : a phase II multicentre, randomised, double-blind, placebo-controlled trial. Journal of Neurology, Neurosurgery & Psychiatry, 90 (10). pp. 1165-1170. ISSN 0022-3050

Cooper-Knock, J., Moll, T., Ramesh, T. et al. (26 more authors) (2019) Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis. Cell Reports, 26 (9). 2298-2306.e5. ISSN 2211-1247

Tazelaar, G.H.P., Dekker, A.M., van Vugt, J.J.F.A. et al. (28 more authors) (2019) Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort. Neurobiology of Aging, 74. 234.e9-234.e15. ISSN 0197-4580

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.

Project, M.A.S.C., van Rheenen, W., Pulit, S.L. et al. (36 more authors) (2018) Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. European Journal of Human Genetics, 26 (10). pp. 1537-1546. ISSN 1018-4813

Consortium, P.M.A.L.S.S., Veldink, J.H., Shaw, P.J. et al. (32 more authors) (2018) CHCHD10 variants in amyotrophic lateral sclerosis: where Is the evidence? Annals of Neurology , 84 (1). pp. 110-116. ISSN 0364-5134

Westeneng, H.-J., Debray, T.P.A., Visser, A.E. et al. (44 more authors) (2018) Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. Lancet Neurology, 17 (5). pp. 423-433. ISSN 1474-4422

Hardiman, O., Al-Chalabi, A., Chio, A. et al. (6 more authors) (2017) Amyotrophic lateral sclerosis. Nature Reviews Disease Primers, 3. 17071.

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

Dolzhenko, E., van Vugt, J.J.F.A., Shaw, R.J. et al. (42 more authors) (2017) Detection of long repeat expansions from PCR-free whole-genome sequence data. Genome Research , 27. pp. 1895-1903. ISSN 1088-9051

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.

Rooney, J., Fogh, I., Westeneng, H.J. et al. (17 more authors) (2016) C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery and Psychiatry. ISSN 0022-3050

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

Martiniano, R., Caffell, A., Holst, M. et al. (18 more authors) (2016) Genomic signals of migration and continuity in Britain before the Anglo-Saxons. Nature Communications, 7. ARTN 10326. ISSN 2041-1723

Agosta, F., Al-Chalabi, A., Filippi, M. et al. (9 more authors) (2014) The El Escorial criteria: Strengths and weaknesses. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16 (1-2). pp. 1-7. ISSN 2167-8421

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

Turner, M.R., Hardiman, O., Benatar, M. et al. (17 more authors) (2013) Controversies and priorities in amyotrophic lateral sclerosis. The Lancet Neurology, 12 (3). pp. 310-322. ISSN 1474-4422