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Emerging Simplex ORigins In ALS

Risultati finali

Data management plan

The drafting of a datamanagement plan.

Pubblicazioni

Advances in the genetic classification of amyotrophic lateral sclerosis

Autori: Cooper-Knock et al.
Pubblicato in: Current Opinion in Neurology, 2021, ISSN 1473-6551
Editore: NA

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Autori: Al Khleifat et al.
Pubblicato in: Genomic Medicine, 2022, ISSN 2056-7944
Editore: NA

Sensitivity of brain MRI and neurological examination for detection of upper motor neurone degeneration in amyotrophic lateral sclerosis

Autori: Nitert et al.
Pubblicato in: JNNP, 2022, ISSN 1468-330X
Editore: BMJ

Longitudinal Effects of Asymptomatic C9orf72 Carriership on Brain Morphology

Autori: Van Veenhuijzen et al.
Pubblicato in: Annals of Neurology, 2023, ISSN 0364-5134
Editore: John Wiley & Sons Inc.

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Autori: Cooper-Knock et al.
Pubblicato in: Cell Reports, 2020, ISSN 2211-1247
Editore: Cell Press

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Autori: Van Rheenen et al
Pubblicato in: Nature Genetics, 2021, ISSN 1061-4036
Editore: Nature Publishing Group

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Autori: Nabais et al.
Pubblicato in: Genomic Medicine, 2020, ISSN 2056-7944
Editore: 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

Autori: Hop et al.
Pubblicato in: NAR Genomics and Bioinformatics, 2020, ISSN 2631-9268
Editore: NA

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

Autori: Tan et al.
Pubblicato in: Annals of Neurology, 2020, ISSN 0364-5134
Editore: John Wiley & Sons Inc.

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

Autori: Tazelaar et al.
Pubblicato in: Brain Communications, 2020, ISSN 2632-1297
Editore: NA

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

Autori: Nabais et al.
Pubblicato in: Genome Biology, 2021, ISSN 1474-7596
Editore: BioMed Central

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Autori: Hop et al.
Pubblicato in: Science Translational Medicine, 2022, ISSN 1946-6234
Editore: American Association for the Advancement of Science

Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

Autori: Restuadi et al.
Pubblicato in: Genomic Medicine, 2022, ISSN 1756-994X
Editore: BioMed Central

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Autori: 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
Pubblicato in: Genome Biology, Issue 21/1, 2020, ISSN 1474-760X
Editore: 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.

Autori: Van Wijk et al.
Pubblicato in: Amyotroph Lateral Scler Frontotemporal Degener, 2023, ISSN 2167-8421
Editore: Informa Healthcare

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Autori: AL Khleifat et al.
Pubblicato in: Frontiers in Cellular Neuroscience, 2022, ISSN 1662-5102
Editore: Frontiers Research Foundation

Cross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease

Autori: 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
Pubblicato in: NeuroImage: Clinical, Issue 24, 2019, Page(s) 101984, ISSN 2213-1582
Editore: 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

Autori: Rick A.A. van der Spek, Wouter van Rheenen, Sara L. Pulit, Kevin P. Kenna, Leonard H. van den Berg, Jan H. Veldink
Pubblicato in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Issue 20/5-6, 2019, Page(s) 432-440, ISSN 2167-8421
Editore: Informa Healthcare
DOI: 10.1080/21678421.2019.1606244

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Autori: 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
Pubblicato in: Bioinformatics, Issue 35/22, 2019, Page(s) 4754-4756, ISSN 1367-4803
Editore: Oxford University Press
DOI: 10.1093/bioinformatics/btz431

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Autori: 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
Pubblicato in: Scientific Reports, Issue 9/1, 2019, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-019-42091-3

Dutch population structure across space, time and GWAS design

Autori: Byrne et al.
Pubblicato in: Nature Communications, 2020, ISSN 2041-1723
Editore: Nature Publishing Group

Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Autori: Megan et al.
Pubblicato in: Nature Communications, 2023, ISSN 2041-1723
Editore: Nature Publishing Group

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Autori: Opie-Martin et al.
Pubblicato in: Nature Communications, 2022, ISSN 2041-1723
Editore: Nature Publishing Group

Genetic variants associated with longitudinal changes in brainstructure across the lifespan

Autori: Brouwer et al.
Pubblicato in: Nature Neuroscience, 2022, ISSN 1097-6256
Editore: Nature Publishing Group

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Autori: Schijven et al.
Pubblicato in: Neurobiology of aging, 2020, ISSN 0197-4580
Editore: Elsevier BV

Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

Autori: Zhang et al.
Pubblicato in: Neuron, 2022, ISSN 0896-6273
Editore: Cell Press

Multimodal longitudinal study of structural brain involvement in amyotrophic lateral sclerosis

Autori: Van der Burgh et al.
Pubblicato in: Neurology, 2020, ISSN 2687-6981
Editore: NA

Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS

Autori: Eitan et al
Pubblicato in: Nature Neuroscience, 2022, ISSN 1097-6256
Editore: Nature Publishing Group

MRI Clustering Reveals Three ALS Subtypes With Unique Neurodegeneration Patterns

Autori: Tan et al.
Pubblicato in: Annals of Neurology, 2022, ISSN 0364-5134
Editore: John Wiley & Sons Inc.

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