Lista de obras -

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

artículo científico publicado en 2006

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

artículo científico publicado en 2011

A Decade of Cerebrospinal Fluid Biomarkers for Alzheimer's Disease in Belgium

artículo científico publicado en 2016

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

artículo científico publicado en 2007

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

artículo científico publicado en 2013

Added Diagnostic Value of Cerebrospinal Fluid Biomarkers for Differential Dementia Diagnosis in an Autopsy-Confirmed Cohort.

artículo científico publicado en 2018

Added diagnostic value of CSF biomarkers in differential dementia diagnosis

artículo científico publicado en 2009

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

artículo científico publicado en 2007

Amyloid pathology influences aβ1-42 cerebrospinal fluid levels in dementia with lewy bodies

artículo científico publicado en 2013

Cerebrospinal Fluid P-Tau181P: Biomarker for Improved Differential Dementia Diagnosis

artículo científico publicado en 2015

Cerebrospinal fluid Aβ1-40 improves differential dementia diagnosis in patients with intermediate P-tau181P levels

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Clinical variability and onset age modifiers in an extended Belgian GRN founder family.

artículo científico publicado en 2018

Comparison of two analytical platforms for the clinical qualification of Alzheimer's disease biomarkers in pathologically-confirmed dementia

artículo científico publicado en 2013

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

artículo científico publicado en 2004

Diagnostic Impact of Cerebrospinal Fluid Biomarker (Pre-)Analytical Variability in Alzheimer's Disease

artículo científico publicado en 2016

Diagnostic performance of a CSF-biomarker panel in autopsy-confirmed dementia.

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease

artículo científico publicado en 2006

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

artículo científico publicado en 2010

Increased CSF α-synuclein levels in Alzheimer's disease: correlation with tau levels

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Longitudinal stability of cerebrospinal fluid biomarker levels: fulfilled requirement for pharmacodynamic markers in Alzheimer's disease

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

artículo científico publicado en 2013

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

artículo científico publicado en 2016

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

scientific article published on 16 September 2016

Mutations in dynamin 2 cause dominant centronuclear myopathy

artículo científico publicado en 2005

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

artículo científico publicado en 2002

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

artículo científico publicado en 2007

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

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

artículo científico publicado en 2017

No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer's disease

artículo científico publicado en 2007

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

artículo científico publicado en 2006

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

artículo científico publicado en 2016

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

artículo científico publicado en 2014

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

artículo científico publicado en 2014

The genetics and neuropathology of frontotemporal lobar degeneration

artículo científico publicado en 2012

Lista de obras de

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

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

A Decade of Cerebrospinal Fluid Biomarkers for Alzheimer's Disease in Belgium

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

Added Diagnostic Value of Cerebrospinal Fluid Biomarkers for Differential Dementia Diagnosis in an Autopsy-Confirmed Cohort.

Added diagnostic value of CSF biomarkers in differential dementia diagnosis

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

Amyloid pathology influences aβ1-42 cerebrospinal fluid levels in dementia with lewy bodies

Cerebrospinal Fluid P-Tau181P: Biomarker for Improved Differential Dementia Diagnosis

Cerebrospinal fluid Aβ1-40 improves differential dementia diagnosis in patients with intermediate P-tau181P levels

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

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

Clinical variability and onset age modifiers in an extended Belgian GRN founder family.

Comparison of two analytical platforms for the clinical qualification of Alzheimer's disease biomarkers in pathologically-confirmed dementia

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

Diagnostic Impact of Cerebrospinal Fluid Biomarker (Pre-)Analytical Variability in Alzheimer's Disease

Diagnostic performance of a CSF-biomarker panel in autopsy-confirmed dementia.

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

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

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

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

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Increased CSF α-synuclein levels in Alzheimer's disease: correlation with tau levels

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

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

Longitudinal stability of cerebrospinal fluid biomarker levels: fulfilled requirement for pharmacodynamic markers in Alzheimer's disease

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

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

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

Mutations in dynamin 2 cause dominant centronuclear myopathy

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

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

No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer's disease

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

The genetics and neuropathology of frontotemporal lobar degeneration