Emerging Simplex ORigins In ALS

Project Information

EScORIAL

Grant agreement ID: 772376

DOI 10.3030/772376

Project closed

EC signature date 9 April 2018

Start date 1 July 2018

End date 30 June 2023

Funded under

• EXCELLENT SCIENCE - European Research Council (ERC)

Total cost € 1 980 434,00

EU contribution € 1 980 434,00

Coordinated by

UNIVERSITAIR MEDISCH CENTRUM UTRECHT
Netherlands

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

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

Author(s): Nabais et al.
Published in: Genome Biology, 2021, ISSN 1474-7596
Publisher: BioMed Central

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

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.