Publications in OpenAlex of which a co-author is affiliated to this organization
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| Title | DOI |
|---|---|
| https://doi.org/10.1038/ng.2802 | Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease |
| https://doi.org/10.1038/ng.440 | Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease |
| https://doi.org/10.1093/bioinformatics/bty149 | NanoPack: visualizing and processing long-read sequencing data |
| https://doi.org/10.1038/s41588-019-0358-2 | Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing |
| https://doi.org/10.1038/s41588-022-01024-z | New insights into the genetic etiology of Alzheimer’s disease and related dementias |
| https://doi.org/10.1038/ng.439 | Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease |
| https://doi.org/10.1016/j.neuron.2022.10.020 | Microglia states and nomenclature: A field at its crossroads |
| https://doi.org/10.1016/j.euroneuro.2011.08.008 | Cost of disorders of the brain in Europe 2010 |
| https://doi.org/10.1038/s41588-019-0397-8 | Genome-wide association study identifies 30 loci associated with bipolar disorder |
| https://doi.org/10.1371/journal.pone.0094661 | Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease |
| https://doi.org/10.1126/science.1232927 | The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS |
| https://doi.org/10.1038/ng.3725 | Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects |
| https://doi.org/10.1007/s00439-016-1683-5 | The hnRNP family: insights into their role in health and disease |
| https://doi.org/10.1038/ng.3916 | Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease |
| https://doi.org/10.1038/gim.2015.117 | The genetic landscape of Alzheimer disease: clinical implications and perspectives |
| https://doi.org/10.1038/mp.2011.52 | APOE and Alzheimer disease: a major gene with semi-dominant inheritance |
| https://doi.org/10.1093/bioinformatics/btad311 | NanoPack2: population-scale evaluation of long-read sequencing data |
| https://doi.org/10.1016/s1474-4422(11)70261-7 | A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study |
| https://doi.org/10.1016/j.jalz.2016.01.012 | Molecular genetics of early‐onset Alzheimer's disease revisited |
| https://doi.org/10.1038/ng.536 | Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions |
| https://doi.org/10.1073/pnas.0912417107 | TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration |
| https://doi.org/10.1093/brain/awx054 | Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders |
| https://doi.org/10.1002/humu.21277 | Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update |
| https://doi.org/10.1056/nejmoa0810739 | Thrombomodulin Mutations in Atypical Hemolytic–Uremic Syndrome |
| https://doi.org/10.15252/emmm.201506123 | |
| https://doi.org/10.1002/ana.22644 | KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy |
| https://doi.org/10.1038/s41467-018-07524-z | Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies |
| https://doi.org/10.1007/s00401-013-1189-3 | Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins |
| https://doi.org/10.1038/sj.mp.4002088 | Meta-analyses of genetic studies on major depressive disorder |
| https://doi.org/10.1038/nm.2396 | HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease |
| https://doi.org/10.1002/humu.22117 | Locus‐specific mutation databases for neurodegenerative brain diseases |
| https://doi.org/10.1038/mp.2013.1 | Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology |
| https://doi.org/10.1038/ng.2728 | Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes |
| https://doi.org/10.1093/brain/awl203 | APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy |
| https://doi.org/10.1016/s1474-4422(14)70065-1 | Frontotemporal dementia and its subtypes: a genome-wide association study |
| https://doi.org/10.1038/nature14665 | Reactivation of multipotency by oncogenic PIK3CA induces breast tumour heterogeneity |
| https://doi.org/10.1093/brain/awn012 | Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study |
| https://doi.org/10.1007/s00401-013-1088-7 | hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations |
| https://doi.org/10.1038/s41576-021-00367-3 | Towards population-scale long-read sequencing |
| https://doi.org/10.1093/brain/awn113 | Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 |
| https://doi.org/10.1016/s1474-4422(12)70259-4 | Genetic insights in Alzheimer's disease |
| https://doi.org/10.1038/s41467-021-22491-8 | Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores |
| https://doi.org/10.1002/humu.20336 | Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40 |
| https://doi.org/10.1038/s41577-024-01104-7 | Neuroinflammation in Alzheimer disease |
| https://doi.org/10.1038/s41588-018-0143-7 | De novo variants in neurodevelopmental disorders with epilepsy |
| https://doi.org/10.1086/444548 | Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin |
| https://doi.org/10.1038/ng.2767 | A de novo gain-of-function mutation in SCN11A causes loss of pain perception |
| https://doi.org/10.1016/j.tig.2018.03.001 | ALS Genes in the Genomic Era and their Implications for FTD |
| https://doi.org/10.1016/s1474-4422(16)00127-7 | Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond |
| https://doi.org/10.1002/ana.21724 | Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1 |
| https://doi.org/10.1111/epi.12984 | Early and effective treatment of |
| https://doi.org/10.1038/srep20877 | Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD |
| https://doi.org/10.1007/s00401-012-1029-x | The genetics and neuropathology of frontotemporal lobar degeneration |
| https://doi.org/10.1002/ana.24080 | Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy |
| https://doi.org/10.1038/ng.3239 | De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy |
| https://doi.org/10.1002/humu.22244 | A Pan‐ |
| https://doi.org/10.1016/j.ajhg.2011.07.003 | Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis |
| https://doi.org/10.1007/s00125-012-2604-3 | Expression of endoplasmic reticulum stress markers in the islets of patients with type 1 diabetes |
| https://doi.org/10.1212/wnl.0000000000000291 | GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome |
| https://doi.org/10.1126/science.aat1178 | A molecular mechanism for Wnt ligand-specific signaling |
| https://doi.org/10.1038/ng.464 | Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy |
| https://doi.org/10.1038/nbt.2053 | Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing |
| https://doi.org/10.3390/genes5010013 | Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success |
| https://doi.org/10.1007/s00401-010-0698-6 | FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration |
| https://doi.org/10.1038/mp.2015.159 | The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter |
| https://doi.org/10.1186/s13756-015-0091-2 | Antimicrobial resistance: one world, one fight! |
| https://doi.org/10.1038/s41436-018-0060-2 | The landscape of epilepsy-related GATOR1 variants |
| https://doi.org/10.1038/ng.2952 | De novo mutations in HCN1 cause early infantile epileptic encephalopathy |
| https://doi.org/10.1038/s41593-020-0618-6 | Profiling peripheral nerve macrophages reveals two macrophage subsets with distinct localization, transcriptome and response to injury |
| https://doi.org/10.1038/mp.2011.24 | Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites |
| https://doi.org/10.1016/j.tig.2015.01.004 | Progress in unraveling the genetic etiology of Parkinson disease in a genomic era |
| https://doi.org/10.1016/j.ajhg.2013.09.017 | De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome |
| https://doi.org/10.1212/wnl.0b013e3181ccc732 | Genetic contribution of FUS to frontotemporal lobar degeneration |
| https://doi.org/10.1038/ng.2007.52 | Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis |
| https://doi.org/10.1007/s00401-019-01994-1 | The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics |
| https://doi.org/10.1016/s1474-4422(07)70222-3 | ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study |
| https://doi.org/10.1080/07853890802186905 | Molecular genetics of Alzheimer's disease: An update |
| https://doi.org/10.1016/j.jalz.2014.05.1757 | Convergent genetic and expression data implicate immunity in Alzheimer's disease |
| https://doi.org/10.1002/ana.21621 | Serum biomarker for progranulin‐associated frontotemporal lobar degeneration |
| https://doi.org/10.1212/wnl.0000000000002740 | Delineating the GRIN1 phenotypic spectrum |
| https://doi.org/10.1007/s00401-014-1262-6 | Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis |
| https://doi.org/10.1016/s0008-6363(99)00071-1 | Structure and function of cardiac potassium channels |
| https://doi.org/10.1016/j.stem.2014.12.002 | Different Levels of Twist1 Regulate Skin Tumor Initiation, Stemness, and Progression |
| https://doi.org/10.1038/ng.3130 | Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes |
| https://doi.org/10.1136/jmedgenet-2015-103451 | Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy |
| https://doi.org/10.1007/s00401-015-1528-7 | Mitochondria-associated membranes as hubs for neurodegeneration |
| https://doi.org/10.3390/pharmaceutics15010236 | Superparamagnetic Iron Oxide Nanoparticles (SPION): From Fundamentals to State-of-the-Art Innovative Applications for Cancer Therapy |
| https://doi.org/10.3109/07853890.2012.665471 | The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum |
| https://doi.org/10.1016/j.tig.2018.02.007 | Understanding Alzheimer Disease at the Interface between Genetics and Transcriptomics |
| https://doi.org/10.1016/j.ajhg.2010.09.010 | Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I |
| https://doi.org/10.1002/ana.24580 | Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation |
| https://doi.org/10.1086/504044 | Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease |
| https://doi.org/10.1016/j.neurobiolaging.2013.09.009 | Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia |
| https://doi.org/10.1093/brain/awq057 | Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy |
| https://doi.org/10.1124/mol.115.099630 | Fulfilling the Promise of "Biased" G Protein–Coupled Receptor Agonism |
| https://doi.org/10.1128/jcm.39.11.4093-4096.2001 | Rapid Detection of Enterovirus RNA in Cerebrospinal Fluid Specimens with a Novel Single-Tube Real-Time Reverse Transcription-PCR Assay |
| https://doi.org/10.1093/hmg/ddq100 | Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations |
| https://doi.org/10.1016/j.biopsych.2011.09.015 | Short Telomeres in Depression and the General Population Are Associated with a Hypocortisolemic State |
| https://doi.org/10.1212/wnl.0000000000002220 | Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort |
| https://doi.org/10.1038/ng.3308 | Transcriptional regulator PRDM12 is essential for human pain perception |