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Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

Neurobiology of disease, 2020-02, Vol.134, p.104639, Article 104639

2020

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-08, Vol.89 (2), p.241-252

2011

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Relationship between C9orf72 repeat size and clinical phenotype

Current opinion in genetics & development, 2017-06, Vol.44, p.117-124

2017

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The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

Annals of medicine (Helsinki), 2012-12, Vol.44 (8), p.817-828

2012

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Genotype-phenotype links in frontotemporal lobar degeneration

Nature reviews. Neurology, 2018-06, Vol.14 (6), p.363

2018

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Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

Acta neuropathologica, 2014-06, Vol.127 (6), p.845-860

2014

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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Genome medicine, 2021-04, Vol.13 (1), p.59-59, Article 59

2021

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Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

Proceedings of the National Academy of Sciences - PNAS, 2013-03, Vol.110 (13), p.4986-4991

2013

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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Neurobiology of aging, 2017-03, Vol.51, p.177.e9-177.e16

2017

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Serum biomarker for progranulin-associated frontotemporal lobar degeneration

Annals of neurology, 2009-05, Vol.65 (5), p.603-609

2009

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NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

Neurobiology of aging, 2018-01, Vol.61, p.255.e1-255.e7

2018

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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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NEXT-GENERATION SEQUENCING GENE DISCOVERY STUDIES IN EARLY-ONSET DEMENTIA

Alzheimer's & dementia, 2014-07, Vol.10 (4), p.P136-P136

2014

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Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis

Neurobiology of disease, 2021-08, Vol.156, p.105421, Article 105421

2021

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Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

Brain (London, England : 1878), 2008-03, Vol.131 (3), p.732-746

2008

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Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration

Alzheimer's research & therapy, 2018-03, Vol.10 (1), p.31-31, Article 31

2018

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FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

Acta neuropathologica, 2010-07, Vol.120 (1), p.33-41

2010

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Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

Frontiers in neurology, 2020-11, Vol.11, p.596108-596108

2020

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EEG DOMINANT FREQUENCY PEAK DIFFERENTIATES BETWEEN ALZHEIMER'S DISEASE AND FRONTOTEMPORAL LOBAR DEGENERATION

Alzheimer's & dementia, 2016, Vol.12 (7), p.P354-P355

2016

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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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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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Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

Alzheimer's research & therapy, 2020-09, Vol.12 (1), p.1-14, Article 108

2020

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Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum

Neurology, 2008-10, Vol.71 (15), p.1191

2008

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Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Relationship between C9orf72 repeat size and clinical phenotype

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

Genotype-phenotype links in frontotemporal lobar degeneration

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

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

NEXT-GENERATION SEQUENCING GENE DISCOVERY STUDIES IN EARLY-ONSET DEMENTIA

Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

EEG DOMINANT FREQUENCY PEAK DIFFERENTIATES BETWEEN ALZHEIMER'S DISEASE AND FRONTOTEMPORAL LOBAR DEGENERATION

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

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

Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum

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