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The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s disease

Proceedings of the National Academy of Sciences - PNAS, 2024-09, Vol.121 (37)

2024

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Subclinical epileptiform activity in the Alzheimer continuum: association with disease, cognition and detection method

Alzheimer's research & therapy, 2024-01, Vol.16 (1), p.19-19, Article 19

2024

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Mutated Toll-like receptor 9 increases Alzheimer's disease risk by compromising innate immunity protection

Molecular psychiatry, 2023-12, Vol.28 (12), p.5380-5389

2023

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Studying TLR9 loss‐of‐function in iPSC of patients with deleterious mutation

Alzheimer's & dementia, 2023-12, Vol.19 (S24), p.n/a

2023

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TRIM25 mutation (p.C168), coding for an E3 ubiquitin ligase, is a cause of early‐onset autosomal dominant dementia with amyloid load and parkinsonism

Alzheimer's & dementia, 2023-07, Vol.19 (7), p.2805-2815

2023

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Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum

Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1624-1636

2023

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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Genetics in medicine, 2023-02, Vol.25 (2), p.100327-100327, Article 100327

2023

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Microtubule associated protein tau p.R406W patient carriers present with a nonconforming clinical phenotype

Alzheimer's & dementia, 2022-12, Vol.18 (S3), p.n/a

2022

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Belgian Carriers of Rare ABCA7 Mutations Present with Pronounced Cerebral Amyloid Angiopathy and Alzheimer’s Disease

Alzheimer's & dementia, 2022-12, Vol.18 (S4), p.n/a

2022

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Associating Alzheimer's disease pathology with its cerebrospinal fluid biomarkers

Brain (London, England : 1878), 2022-11, Vol.145 (11), p.4056-4064

2022

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How network-based approaches can complement gene identification studies in frontotemporal dementia

Trends in genetics, 2022-09, Vol.38 (9), p.944-955

2022

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Protein interaction network analysis reveals genetic enrichment of immune system genes in frontotemporal dementia

Neurobiology of aging, 2022-08, Vol.116, p.67-79

2022

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Belgian Carriers of Rare ABCA7 Mutations Present with Pronounced Cerebral Amyloid Angiopathy and Alzheimer’s Disease (S15.004)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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Prevalence and Phenotype of TBK1 Mutations: an In-Depth Description (P11-3.001)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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Frequent MAPT p.R406W Carriers with a Nonconforming FTD Phenotype in the Belgian Population (S20.006)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease

Molecular neurodegeneration, 2022-04, Vol.17 (1), p.31-31, Article 31

2022

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Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion

Acta neuropathologica communications, 2022-03, Vol.10 (1), p.43-43, Article 43

2022

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Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

Biomolecules (Basel, Switzerland), 2022-03, Vol.12 (3), p.440

2022

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Uncovering the impact of noncoding variants in neurodegenerative brain diseases

Trends in genetics, 2022-03, Vol.38 (3), p.258-272

2022

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Genetic variants in progranulin upstream open reading frames increase downstream protein expression

Neurobiology of aging, 2022-02, Vol.110, p.113-121

2022

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Improved Alzheimer's Disease versus Frontotemporal Lobar Degeneration Differential Diagnosis Combining EEG and Neurochemical Biomarkers: A Pilot Study

Journal of Alzheimer's disease, 2022-01, Vol.90 (4), p.1739-1747

2022

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Lack of association between bridging integrator 1 (BIN1) rs744373 polymorphism and tau‐PET load in cognitively intact older adults

Alzheimer's & dementia : translational research & clinical interventions, 2022, Vol.8 (1), p.e12227-n/a

2022

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Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor

Biomedicines, 2021-12, Vol.10 (1), p.20

2021

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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

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13633

2021

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The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s disease

Subclinical epileptiform activity in the Alzheimer continuum: association with disease, cognition and detection method

Mutated Toll-like receptor 9 increases Alzheimer's disease risk by compromising innate immunity protection

Studying TLR9 loss‐of‐function in iPSC of patients with deleterious mutation

TRIM25 mutation (p.C168), coding for an E3 ubiquitin ligase, is a cause of early‐onset autosomal dominant dementia with amyloid load and parkinsonism

Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Microtubule associated protein tau p.R406W patient carriers present with a nonconforming clinical phenotype

Belgian Carriers of Rare ABCA7 Mutations Present with Pronounced Cerebral Amyloid Angiopathy and Alzheimer’s Disease

Associating Alzheimer's disease pathology with its cerebrospinal fluid biomarkers

How network-based approaches can complement gene identification studies in frontotemporal dementia

Protein interaction network analysis reveals genetic enrichment of immune system genes in frontotemporal dementia

Belgian Carriers of Rare ABCA7 Mutations Present with Pronounced Cerebral Amyloid Angiopathy and Alzheimer’s Disease (S15.004)

Prevalence and Phenotype of TBK1 Mutations: an In-Depth Description (P11-3.001)

Frequent MAPT p.R406W Carriers with a Nonconforming FTD Phenotype in the Belgian Population (S20.006)

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease

Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation

Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion

Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

Uncovering the impact of noncoding variants in neurodegenerative brain diseases

Genetic variants in progranulin upstream open reading frames increase downstream protein expression

Improved Alzheimer's Disease versus Frontotemporal Lobar Degeneration Differential Diagnosis Combining EEG and Neurochemical Biomarkers: A Pilot Study

Lack of association between bridging integrator 1 (BIN1) rs744373 polymorphism and tau‐PET load in cognitively intact older adults

Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor

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

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