Christine Van Broeckhoven creator_rhrj67g4r5hnxf6ekibratmiea

Given name Christine
Surname Van Broeckhoven

Releases

This creator has contributed to:

2017-12-21 NanoPack: visualizing and processing long read sequencing data
unknown status | post
doi:10.1101/237180
2018-05-18 Genotype–phenotype links in frontotemporal lobar degeneration
published | article-journal
doi:10.1038/s41582-018-0009-8
2018 Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.scr.2018.05.018
2016-03-30 A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease
published | article-journal
doi:10.1007/s00401-016-1566-9
2015 C-terminal neurogranin is increased in cerebrospinal fluid but unchanged in plasma in Alzheimer's disease
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.jalz.2015.05.012
2018 Clinical variability and onset age modifiers in an extended Belgian GRN founder family
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.neurobiolaging.2018.03.007
2018 NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.neurobiolaging.2017.08.021
2015-08-27 The genetic landscape of Alzheimer disease: clinical implications and perspectives
published | article-journal
doi:10.1038/gim.2015.117
2017 Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.neurobiolaging.2016.12.008
2016 Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort
published | article-journal
doi:10.1016/j.neulet.2016.07.008
2016 Molecular genetics of early-onset Alzheimer's disease revisited
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.jalz.2016.01.012
2017-07-17 Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
published | article-journal
doi:10.1038/ng.3916
2018-10-03 Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
unknown status | post
doi:10.1101/434118
2019-05-29 IPSC-derived neuronal cultures expressing the Alzheimer's disease associated rare TREM2 R47H variant enables the construction of an Aβ-induced gene regulatory network
unknown status | post
doi:10.1101/652446
2014 Genome-wide association interaction analysis for Alzheimer's disease
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.neurobiolaging.2014.05.014
2017 ATXN2 trinucleotide repeat length correlates with risk of ALS
published | article-journal | CC-BY
doi:10.1016/j.neurobiolaging.2016.11.010
2018-10-09 Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.
unknown status | post
doi:10.1101/439026
2019-10-22 Improved Alzheimer's disease versus frontotemporal lobar degeneration differential diagnosis combining EEG and neurochemical biomarkers
unknown status | post
doi:10.1101/19009316
2018-04-03 Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
published | article-journal
doi:10.17863/cam.21667
2019-02-28 Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
published | article-journal
doi:10.1038/s41588-019-0358-2
2019-03-14 Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability
published | article-journal
doi:10.1007/s00401-019-01976-3
2019-06-11 Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
published | article-journal
doi:10.1101/gr.244939.118
2020-03-14 Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export
published | article-journal
doi:10.1007/s00401-020-02145-7
2019-03-19 Newest Methods for Detecting Structural Variations
published | article-journal
doi:10.1016/j.tibtech.2019.02.003
2020-05-22 Homozygous and compound heterozygous rare variants in VPS13C contribute to Lewy body diseases
unknown status | post | CC-BY
doi:10.21203/rs.3.rs-29975/v1
2020-06-15 Reply: ATP10B and the risk for Parkinson's disease
published | article-journal
doi:10.1007/s00401-020-02173-3
2020-08-20 Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker–based case–control study
published | article-journal | CC-BY
doi:10.1371/journal.pmed.1003289
2020-09-05 Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism
published | article-journal
doi:10.1007/s00401-020-02220-z
2020-09-17 C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
published | article-journal
doi:10.1212/wnl.0000000000010914
2021-02-13 Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease
published | stub | CC-BY
doi:10.6084/m9.figshare.c.5303905
2021-02-13 Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease
published | stub | v1 | CC-BY
doi:10.6084/m9.figshare.c.5303905.v1
2021-02-13 Additional file 1 of Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease
published | component | CC-BY
doi:10.6084/m9.figshare.13978780
2021-02-13 Additional file 1 of Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease
published | component | v1 | CC-BY
doi:10.6084/m9.figshare.13978780.v1
2021-02-16 Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population
published | article-journal
doi:10.1007/s00401-021-02277-4
2021-02-18 Reply: ATP10B variants in Parkinson's disease-a large cohort study in Chinese mainland population
published | personal_communication
doi:10.1007/s00401-021-02281-8
2021-02-20 Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants
published | article-journal | CC-BY-NC-ND
doi:10.1002/dad2.12155
2021-03-28 Investigation of the role of matrix metalloproteinases in the genetic etiology of Alzheimer's disease
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.neurobiolaging.2021.03.011
2021-05-02 Premature termination codon mutations in ABCA7 contribute to Alzheimer's disease risk in Belgian patients
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.neurobiolaging.2021.04.023
2021-07-14 Rare variants in IFFO1, DTNB and NLRC3 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation
unknown status | post
doi:10.1101/2021.07.10.21260177
2021-09-14 Uncovering the impact of noncoding variants in neurodegenerative brain diseases
published | article-journal | CC-BY-NC-ND
doi:10.1016/j.tig.2021.08.010
2021-09-10 Genetic variants in progranulin upstream open reading frames increase downstream protein expression
published | article-journal
doi:10.1016/j.neurobiolaging.2021.09.007
2020-09-17 C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts
published | article-journal
doi:10.1212/wnl.0000000000010914
2021-02-12 Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease
published | article-journal | CC-BY
doi:10.1186/s40478-021-01121-w
2021-06-07 Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
published | article-journal | CC-BY
doi:10.1038/s41467-021-22491-8
2021-12-20 Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene
published | article-journal | CC-BY
doi:10.3390/ijms222413633
2021-04-14 Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
published | article-journal
doi:10.1186/s13073-021-00878-y
2021-12-23 Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor
published | article-journal | CC-BY
doi:10.3390/biomedicines10010020
2019-08-15 Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
published | article-journal
doi:10.1038/s41588-019-0495-7
2022-03-09 Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers
unknown status | post
doi:10.1101/2022.03.08.22271043
2022-03-12 Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology
published | article-journal | CC-BY
doi:10.3390/biom12030440
2022-04-12 New insights into the genetic etiology of Alzheimer's disease and related dementias.
published | article-journal
doi:10.17863/cam.83464
2022-04-04 New insights into the genetic etiology of Alzheimer's disease and related dementias
published | article-journal
doi:10.1038/s41588-022-01024-z
2022-05-09 New insights into the genetic etiology of Alzheimer's disease and related dementias
published | article-journal
doi:10.17863/cam.84301
2022-05-09 New insights into the genetic etiology of Alzheimer's disease and related dementias.
published | article-journal | CC-BY
doi:10.17863/cam.84320
2022-08-03 Multivariate GWAS of Alzheimer′s disease CSF biomarker profiles implies GRIN2D in synaptic functioning
unknown status | post
doi:10.1101/2022.08.02.22278185
2023-02-09 Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
published | unknown type
doi:10.1038/s41467-023-36192-x
2023-07-11 Mutated Toll-like receptor 9 increases Alzheimer's disease risk by compromising innate immunity protection
published | article-journal | CC-BY
doi:10.1038/s41380-023-02166-0
2021-08-13 ZCWPW1 loss-of-function variants in Alzheimer's Disease
unknown status | post
doi:10.1101/2021.08.13.21261426
2022-02-16 Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation
published | article-journal
doi:10.1038/s41380-022-01437-6
2020-05-06 Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis
published | article-journal
doi:10.1186/s40478-020-00935-4
2021-06-07 Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
published | article-journal
doi:10.17863/cam.70957
2022-04-09 Protein interaction network analysis reveals genetic enrichment of immune system genes in frontotemporal dementia
published | article-journal
doi:10.1016/j.neurobiolaging.2022.03.018
2022-09-29 Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum
published | article-journal
doi:10.1093/brain/awac362
2023-06-16 Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration
published | article-journal
doi:10.1016/j.neurobiolaging.2023.06.009
2024-09-03 The <i>SORL1</i> p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease
published | article-journal | CC-BY-NC-ND
doi:10.1073/pnas.2408262121
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