Items where authors include "van den Berg, L.H."

Article

Demaegd, K.C. orcid.org/0000-0001-9606-0531, Kernan, A. orcid.org/0009-0001-3168-1262, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (27 more authors) (2025) An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2. European Journal of Human Genetics. ISSN 1018-4813

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

Benatar, M. orcid.org/0000-0003-4241-5135, Heiman-Patterson, T.D. orcid.org/0000-0002-9910-1041, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (12 more authors) (2024) Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD. Journal of Neurology, Neurosurgery and Psychiatry, 96 (3). pp. 209-218. 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

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

Genge, A., Cedarbaum, J.M., Shefner, J. et al. (19 more authors) (2024) The ALSFRS-R Summit: a global call to action on the use of the ALSFRS-R in ALS clinical trials. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 25 (3-4). pp. 382-387. ISSN 2167-8421

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

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

Eitan, C. orcid.org/0000-0001-6952-0336, Siany, A., Barkan, E. et al. (46 more authors) (2022) Whole-genome sequencing reveals that variants in the Interleukin 18 receptor accessory protein 3′UTR protect against ALS. Nature Neuroscience, 25 (4). pp. 433-445. ISSN 1097-6256

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.

van Eijk, R.P.A., de Jongh, A.D., Nikolakopoulos, S. et al. (4 more authors) (2021) An old friend who has overstayed their welcome : the ALSFRS-R total score as primary endpoint for ALS clinical trials. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (3-4). pp. 300-307. ISSN 2167-8421

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

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

van Eijk, R.P.A., Nikolakopoulos, S., Roes, K.C.B. et al. (7 more authors) (2019) Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials. Journal of Neurology, Neurosurgery & Psychiatry, 90 (12). pp. 1331-1337. ISSN 0022-3050

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

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

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

van Eijk, R.P.A., Jones, A.R., Sproviero, W. et al. (19 more authors) (2017) Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials. Neurology, 89 (18). pp. 1915-1922. ISSN 0028-3878

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

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.

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

Gaastra, B., Shatunov, A., Pulit, S. et al. (15 more authors) (2016) Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17 (7-8). pp. 593-599. 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

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