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Emerging Simplex ORigins In ALS

Resultado final

Data management plan

The drafting of a datamanagement plan.

Publicaciones

Advances in the genetic classification of amyotrophic lateral sclerosis

Autores: Cooper-Knock et al.
Publicado en: Current Opinion in Neurology, 2021, ISSN 1473-6551
Editor: NA

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

Autores: Al Khleifat et al.
Publicado en: Genomic Medicine, 2022, ISSN 2056-7944
Editor: NA

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

Autores: Nitert et al.
Publicado en: JNNP, 2022, ISSN 1468-330X
Editor: BMJ

Longitudinal Effects of Asymptomatic C9orf72 Carriership on Brain Morphology

Autores: Van Veenhuijzen et al.
Publicado en: Annals of Neurology, 2023, ISSN 0364-5134
Editor: John Wiley & Sons Inc.

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

Autores: Cooper-Knock et al.
Publicado en: Cell Reports, 2020, ISSN 2211-1247
Editor: Cell Press

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

Autores: Van Rheenen et al
Publicado en: Nature Genetics, 2021, ISSN 1061-4036
Editor: Nature Publishing Group

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

Autores: Nabais et al.
Publicado en: Genomic Medicine, 2020, ISSN 2056-7944
Editor: 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

Autores: Hop et al.
Publicado en: NAR Genomics and Bioinformatics, 2020, ISSN 2631-9268
Editor: NA

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

Autores: Tan et al.
Publicado en: Annals of Neurology, 2020, ISSN 0364-5134
Editor: John Wiley & Sons Inc.

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

Autores: Tazelaar et al.
Publicado en: Brain Communications, 2020, ISSN 2632-1297
Editor: NA

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

Autores: Nabais et al.
Publicado en: Genome Biology, 2021, ISSN 1474-7596
Editor: BioMed Central

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

Autores: Hop et al.
Publicado en: Science Translational Medicine, 2022, ISSN 1946-6234
Editor: American Association for the Advancement of Science

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

Autores: Restuadi et al.
Publicado en: Genomic Medicine, 2022, ISSN 1756-994X
Editor: BioMed Central

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

Autores: 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
Publicado en: Genome Biology, Issue 21/1, 2020, ISSN 1474-760X
Editor: 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.

Autores: Van Wijk et al.
Publicado en: Amyotroph Lateral Scler Frontotemporal Degener, 2023, ISSN 2167-8421
Editor: Informa Healthcare

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

Autores: AL Khleifat et al.
Publicado en: Frontiers in Cellular Neuroscience, 2022, ISSN 1662-5102
Editor: Frontiers Research Foundation

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

Autores: 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
Publicado en: NeuroImage: Clinical, Issue 24, 2019, Page(s) 101984, ISSN 2213-1582
Editor: 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

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

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

Autores: 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
Publicado en: Bioinformatics, Issue 35/22, 2019, Page(s) 4754-4756, ISSN 1367-4803
Editor: Oxford University Press
DOI: 10.1093/bioinformatics/btz431

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

Autores: 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
Publicado en: Scientific Reports, Issue 9/1, 2019, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-019-42091-3

Dutch population structure across space, time and GWAS design

Autores: Byrne et al.
Publicado en: Nature Communications, 2020, ISSN 2041-1723
Editor: Nature Publishing Group

Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Autores: Megan et al.
Publicado en: Nature Communications, 2023, ISSN 2041-1723
Editor: Nature Publishing Group

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

Autores: Opie-Martin et al.
Publicado en: Nature Communications, 2022, ISSN 2041-1723
Editor: Nature Publishing Group

Genetic variants associated with longitudinal changes in brainstructure across the lifespan

Autores: Brouwer et al.
Publicado en: Nature Neuroscience, 2022, ISSN 1097-6256
Editor: Nature Publishing Group

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

Autores: Schijven et al.
Publicado en: Neurobiology of aging, 2020, ISSN 0197-4580
Editor: Elsevier BV

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

Autores: Zhang et al.
Publicado en: Neuron, 2022, ISSN 0896-6273
Editor: Cell Press

Multimodal longitudinal study of structural brain involvement in amyotrophic lateral sclerosis

Autores: Van der Burgh et al.
Publicado en: Neurology, 2020, ISSN 2687-6981
Editor: NA

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

Autores: Eitan et al
Publicado en: Nature Neuroscience, 2022, ISSN 1097-6256
Editor: Nature Publishing Group

MRI Clustering Reveals Three ALS Subtypes With Unique Neurodegeneration Patterns

Autores: Tan et al.
Publicado en: Annals of Neurology, 2022, ISSN 0364-5134
Editor: John Wiley & Sons Inc.

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