Deliverables Open Research Data Pilot (1) Data management plan The drafting of a datamanagement plan. Publications Peer reviewed articles (28) Advances in the genetic classification of amyotrophic lateral sclerosis Author(s): Cooper-Knock et al. Published in: Current Opinion in Neurology, 2021, ISSN 1473-6551 Publisher: NA Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis Author(s): Al Khleifat et al. Published in: Genomic Medicine, 2022, ISSN 2056-7944 Publisher: NA Sensitivity of brain MRI and neurological examination for detection of upper motor neurone degeneration in amyotrophic lateral sclerosis Author(s): Nitert et al. Published in: JNNP, 2022, ISSN 1468-330X Publisher: BMJ Longitudinal Effects of Asymptomatic C9orf72 Carriership on Brain Morphology Author(s): Van Veenhuijzen et al. Published in: Annals of Neurology, 2023, ISSN 0364-5134 Publisher: John Wiley & Sons Inc. Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene Author(s): Cooper-Knock et al. Published in: Cell Reports, 2020, ISSN 2211-1247 Publisher: Cell Press Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology Author(s): Van Rheenen et al Published in: Nature Genetics, 2021, ISSN 1061-4036 Publisher: Nature Publishing Group Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis Author(s): Nabais et al. Published in: Genomic Medicine, 2020, ISSN 2056-7944 Publisher: NA 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 Author(s): Hop et al. Published in: NAR Genomics and Bioinformatics, 2020, ISSN 2631-9268 Publisher: NA The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis Author(s): Tan et al. Published in: Annals of Neurology, 2020, ISSN 0364-5134 Publisher: John Wiley & Sons Inc. ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization Author(s): Tazelaar et al. Published in: Brain Communications, 2020, ISSN 2632-1297 Publisher: NA Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS Author(s): Hop et al. Published in: Science Translational Medicine, 2022, ISSN 1946-6234 Publisher: American Association for the Advancement of Science Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1 Author(s): Restuadi et al. Published in: Genomic Medicine, 2022, ISSN 1756-994X Publisher: BioMed Central ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data Author(s): Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J. F. A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David R. Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle Published in: Genome Biology, Issue 21/1, 2020, ISSN 1474-760X Publisher: Springer Nature DOI: 10.1186/s13059-020-02017-z Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion. Author(s): Van Wijk et al. Published in: Amyotroph Lateral Scler Frontotemporal Degener, 2023, ISSN 2167-8421 Publisher: Informa Healthcare Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data Author(s): AL Khleifat et al. Published in: Frontiers in Cellular Neuroscience, 2022, ISSN 1662-5102 Publisher: Frontiers Research Foundation Cross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease Author(s): Hannelore K. van der Burgh, Henk-Jan Westeneng, Jil M. Meier, Michael A. van Es, Jan H. Veldink, Jeroen Hendrikse, Martijn P. van den Heuvel, Leonard H. van den Berg Published in: NeuroImage: Clinical, Issue 24, 2019, Page(s) 101984, ISSN 2213-1582 Publisher: Elsevier BV DOI: 10.1016/j.nicl.2019.101984 The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public Author(s): Rick A.A. van der Spek, Wouter van Rheenen, Sara L. Pulit, Kevin P. Kenna, Leonard H. van den Berg, Jan H. Veldink Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Issue 20/5-6, 2019, Page(s) 432-440, ISSN 2167-8421 Publisher: Informa Healthcare DOI: 10.1080/21678421.2019.1606244 ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions Author(s): Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew Gross, Giuseppe Narzisi, Brett Bowman, Konrad Scheffler, Joke J F A van Vugt, Courtney French, Alba Sanchis-Juan, Kristina Ibáñez, Arianna Tucci, Bryan R Lajoie, Jan H Veldink, F Lucy Raymond, Ryan J Taft, David R Bentley, Michael A Eberle Published in: Bioinformatics, Issue 35/22, 2019, Page(s) 4754-4756, ISSN 1367-4803 Publisher: Oxford University Press DOI: 10.1093/bioinformatics/btz431 Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis Author(s): Annelot M. Dekker, Frank P. Diekstra, Sara L. Pulit, Gijs H. P. Tazelaar, Rick A. van der Spek, Wouter van Rheenen, Kristel R. van Eijk, Andrea Calvo, Maura Brunetti, Philip Van Damme, Wim Robberecht, Orla Hardiman, Russell McLaughlin, Adriano Chiò, Michael Sendtner, Albert C. Ludolph, Jochen H. Weishaupt, Jesus S. Mora Pardina, Leonard H. van den Berg, Jan H. Veldink Published in: Scientific Reports, Issue 9/1, 2019, ISSN 2045-2322 Publisher: Nature Publishing Group DOI: 10.1038/s41598-019-42091-3 Dutch population structure across space, time and GWAS design Author(s): Byrne et al. Published in: Nature Communications, 2020, ISSN 2041-1723 Publisher: Nature Publishing Group Integrative genetic analysis illuminates ALS heritability and identifies risk genes Author(s): Megan et al. Published in: Nature Communications, 2023, ISSN 2041-1723 Publisher: Nature Publishing Group The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration Author(s): Opie-Martin et al. Published in: Nature Communications, 2022, ISSN 2041-1723 Publisher: Nature Publishing Group Genetic variants associated with longitudinal changes in brainstructure across the lifespan Author(s): Brouwer et al. Published in: Nature Neuroscience, 2022, ISSN 1097-6256 Publisher: Nature Publishing Group Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy Author(s): Schijven et al. Published in: Neurobiology of aging, 2020, ISSN 0197-4580 Publisher: Elsevier BV Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis Author(s): Zhang et al. Published in: Neuron, 2022, ISSN 0896-6273 Publisher: Cell Press Multimodal longitudinal study of structural brain involvement in amyotrophic lateral sclerosis Author(s): Van der Burgh et al. Published in: Neurology, 2020, ISSN 2687-6981 Publisher: NA Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS Author(s): Eitan et al Published in: Nature Neuroscience, 2022, ISSN 1097-6256 Publisher: Nature Publishing Group MRI Clustering Reveals Three ALS Subtypes With Unique Neurodegeneration Patterns Author(s): Tan et al. Published in: Annals of Neurology, 2022, ISSN 0364-5134 Publisher: John Wiley & Sons Inc. Searching for OpenAIRE data... There was an error trying to search data from OpenAIRE No results available
