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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 Cerebrospinal Fluid Aβ1-42/Aβ1-40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer's Disease in a Clinical Setting

Journal of Alzheimer's disease, 2017, Vol.60 (2), p.561

2017

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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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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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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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Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease

Acta neuropathologica communications, 2021-02, Vol.9 (1), p.25-15, Article 25

2021

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EEG Dominant Frequency Peak Differentiates Between Alzheimer's Disease and Frontotemporal Lobar Degeneration

Journal of Alzheimer's disease, 2017-01, Vol.55 (1), p.53

2017

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No added diagnostic value of non-phosphorylated tau fraction (p-tau rel ) in CSF as a biomarker for differential dementia diagnosis

Alzheimer's research & therapy, 2017-07, Vol.9 (1), p.49-49, Article 49

2017

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Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family

Alzheimer's research & therapy, 2018-01, Vol.10 (1), p.7-7, Article 7

2018

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Association of short-term cognitive decline and MCI-to-AD dementia conversion with CSF, MRI, amyloid- and 18F-FDG-PET imaging

NeuroImage clinical, 2019-01, Vol.22, p.101771-101771, Article 101771

2019

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Tacrolimus-induced cognitive impairment: a case report

Acta neurologica Belgica, 2024-08, Vol.124 (4), p.1415-1417

2024

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Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

Acta neuropathologica communications, 2015-11, Vol.3 (68), p.68-68, Article 68

2015

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Modifiers of GRN-Associated Frontotemporal Lobar Degeneration

Trends in molecular medicine, 2017-10, Vol.23 (10), p.962-979

2017

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Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

Neurology, 2015-12, Vol.85 (24), p.2116

2015

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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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Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

Brain (London, England : 1878), 2016-02, Vol.139 (Pt 2), p.452-467

2016

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Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis

Neurobiology of aging, 2018-09, Vol.69, p.292.e7-292.e14

2018

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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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RARE FRAMESHIFT AND DIGENIC MUTATIONS CONTRIBUTE TO DISEASE ETIOLOGY IN BELGIAN ALZHEIMER AND FRONTOTEMPORAL DEMENTIA PATIENTS

Alzheimer's & dementia, 2018-07, Vol.14 (7), p.P1113-P1114

2018

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In‐depth phenotypic description of pathogenic TBK1 mutations: A frequent cause of FTD and ALS in the Flanders‐Belgian population

Alzheimer's & dementia, 2021-12, Vol.17 (S3), p.e052900-n/a

2021

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Extensive genetic and phenotypic description of MAPT p.R406W in the Flanders‐Belgian population

Alzheimer's & dementia, 2021-12, Vol.17 (S3), p.e053069-n/a

2021

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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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No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers

Neurobiology of aging, 2021-01, Vol.97, p.145.e1-145.e4

2021

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Relationship between C9orf72 repeat size and clinical phenotype

The Cerebrospinal Fluid Aβ1-42/Aβ1-40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer's Disease in a Clinical Setting

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

Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability

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

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

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease

EEG Dominant Frequency Peak Differentiates Between Alzheimer's Disease and Frontotemporal Lobar Degeneration

No added diagnostic value of non-phosphorylated tau fraction (p-tau rel ) in CSF as a biomarker for differential dementia diagnosis

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family

Association of short-term cognitive decline and MCI-to-AD dementia conversion with CSF, MRI, amyloid- and 18F-FDG-PET imaging

Tacrolimus-induced cognitive impairment: a case report

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

Modifiers of GRN-Associated Frontotemporal Lobar Degeneration

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

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

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis

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

RARE FRAMESHIFT AND DIGENIC MUTATIONS CONTRIBUTE TO DISEASE ETIOLOGY IN BELGIAN ALZHEIMER AND FRONTOTEMPORAL DEMENTIA PATIENTS

In‐depth phenotypic description of pathogenic TBK1 mutations: A frequent cause of FTD and ALS in the Flanders‐Belgian population

Extensive genetic and phenotypic description of MAPT p.R406W in the Flanders‐Belgian population

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

No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers

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