Emerging Simplex ORigins In ALS

Rezultaty

The drafting of a datamanagement plan.

Publikacje

Advances in the genetic classification of amyotrophic lateral sclerosis

Autorzy: Cooper-Knock et al.
Opublikowane w: Current Opinion in Neurology, 2021, ISSN 1473-6551
Wydawca: NA

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

Autorzy: Al Khleifat et al.
Opublikowane w: Genomic Medicine, 2022, ISSN 2056-7944
Wydawca: NA

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

Autorzy: Nitert et al.
Opublikowane w: JNNP, 2022, ISSN 1468-330X
Wydawca: BMJ

Longitudinal Effects of Asymptomatic C9orf72 Carriership on Brain Morphology

Autorzy: Van Veenhuijzen et al.
Opublikowane w: Annals of Neurology, 2023, ISSN 0364-5134
Wydawca: John Wiley & Sons Inc.

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

Autorzy: Cooper-Knock et al.
Opublikowane w: Cell Reports, 2020, ISSN 2211-1247
Wydawca: Cell Press

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

Autorzy: Van Rheenen et al
Opublikowane w: Nature Genetics, 2021, ISSN 1061-4036
Wydawca: Nature Publishing Group

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

Autorzy: Nabais et al.
Opublikowane w: Genomic Medicine, 2020, ISSN 2056-7944
Wydawca: 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

Autorzy: Hop et al.
Opublikowane w: NAR Genomics and Bioinformatics, 2020, ISSN 2631-9268
Wydawca: NA

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

Autorzy: Tan et al.
Opublikowane w: Annals of Neurology, 2020, ISSN 0364-5134
Wydawca: John Wiley & Sons Inc.

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

Autorzy: Tazelaar et al.
Opublikowane w: Brain Communications, 2020, ISSN 2632-1297
Wydawca: NA

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

Autorzy: Nabais et al.
Opublikowane w: Genome Biology, 2021, ISSN 1474-7596
Wydawca: BioMed Central

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

Autorzy: Hop et al.
Opublikowane w: Science Translational Medicine, 2022, ISSN 1946-6234
Wydawca: American Association for the Advancement of Science

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

Autorzy: Restuadi et al.
Opublikowane w: Genomic Medicine, 2022, ISSN 1756-994X
Wydawca: BioMed Central

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

Autorzy: 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
Opublikowane w: Genome Biology, Numer 21/1, 2020, ISSN 1474-760X
Wydawca: 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.

Autorzy: Van Wijk et al.
Opublikowane w: Amyotroph Lateral Scler Frontotemporal Degener, 2023, ISSN 2167-8421
Wydawca: Informa Healthcare

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

Autorzy: AL Khleifat et al.
Opublikowane w: Frontiers in Cellular Neuroscience, 2022, ISSN 1662-5102
Wydawca: Frontiers Research Foundation

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

Autorzy: 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
Opublikowane w: NeuroImage: Clinical, Numer 24, 2019, Strona(/y) 101984, ISSN 2213-1582
Wydawca: 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

Autorzy: Rick A.A. van der Spek, Wouter van Rheenen, Sara L. Pulit, Kevin P. Kenna, Leonard H. van den Berg, Jan H. Veldink
Opublikowane w: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Numer 20/5-6, 2019, Strona(/y) 432-440, ISSN 2167-8421
Wydawca: Informa Healthcare
DOI: 10.1080/21678421.2019.1606244

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

Autorzy: 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
Opublikowane w: Scientific Reports, Numer 9/1, 2019, ISSN 2045-2322
Wydawca: Nature Publishing Group
DOI: 10.1038/s41598-019-42091-3

Dutch population structure across space, time and GWAS design

Autorzy: Byrne et al.
Opublikowane w: Nature Communications, 2020, ISSN 2041-1723
Wydawca: Nature Publishing Group

Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Autorzy: Megan et al.
Opublikowane w: Nature Communications, 2023, ISSN 2041-1723
Wydawca: Nature Publishing Group

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

Autorzy: Opie-Martin et al.
Opublikowane w: Nature Communications, 2022, ISSN 2041-1723
Wydawca: Nature Publishing Group

Genetic variants associated with longitudinal changes in brainstructure across the lifespan

Autorzy: Brouwer et al.
Opublikowane w: Nature Neuroscience, 2022, ISSN 1097-6256
Wydawca: Nature Publishing Group

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

Autorzy: Schijven et al.
Opublikowane w: Neurobiology of aging, 2020, ISSN 0197-4580
Wydawca: Elsevier BV

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

Autorzy: Zhang et al.
Opublikowane w: Neuron, 2022, ISSN 0896-6273
Wydawca: Cell Press

Multimodal longitudinal study of structural brain involvement in amyotrophic lateral sclerosis

Autorzy: Van der Burgh et al.
Opublikowane w: Neurology, 2020, ISSN 2687-6981
Wydawca: NA

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

Autorzy: Eitan et al
Opublikowane w: Nature Neuroscience, 2022, ISSN 1097-6256
Wydawca: Nature Publishing Group

MRI Clustering Reveals Three ALS Subtypes With Unique Neurodegeneration Patterns

Autorzy: Tan et al.
Opublikowane w: Annals of Neurology, 2022, ISSN 0364-5134
Wydawca: John Wiley & Sons Inc.

Rezultaty

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