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List of works by Jean-Jacques Martin

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

scientific article published on 22 February 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 4 January 2013

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

scientific article published on 29 March 2018

Added diagnostic value of CSF biomarkers in differential dementia diagnosis

scientific article published on 15 January 2009

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

scientific article published in October 2007

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

scientific article published in January 2013

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

scientific article published on 17 June 2015

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

scientific article

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

scientific article published on 13 February 2017

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

scientific article published on 15 December 2015

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

scientific article

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

scientific article published in January 2013

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

scientific article

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

scientific article published on 19 January 2016

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

scientific article published on 10 April 2007

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

scientific article published on 20 March 2018

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

scientific article published in March 2013

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

scientific article

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

scientific article

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

scientific article published on 24 August 2006

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

scientific article published in May 2010

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

scientific article

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

scientific article published on 21 December 2016

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

scientific article published on 10 November 2015

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

scientific article published in January 2013

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 25 March 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

scientific article

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

scientific article

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

scientific article published in April 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

scientific article

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

scientific article published on 22 June 2007

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

scientific article

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

scientific article published on April 2016

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

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

scientific article published on 19 January 2014

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

scientific article

The genetics and neuropathology of frontotemporal lobar degeneration

scientific article published in September 2012

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