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Authors whose works are in public domain in at least one jurisdiction

List of works by Maria Mattheijssens

1-23 of 23 results

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

scientific article
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
Serum biomarker for progranulin-associated frontotemporal lobar degeneration

scientific article published in May 2009
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family

scientific article published in October 2007
Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

scientific article published on 9 October 2013
TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

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

scientific article published in April 2007
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

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

scientific article
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
Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

scientific article published on 16 January 2012
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
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article
DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

scientific article published on 26 November 2011
C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

scientific article published on 24 January 2013
Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

scientific article published on 15 December 2015
Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts

scientific article published on 27 October 2011
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

scientific article published on 13 February 2017
Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population

scientific article
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

scientific article published on April 2016
Contribution of TARDBP to Alzheimer's disease genetic etiology

scientific article
GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population

scientific article published on 24 March 2009
Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia

scientific article published on 13 September 2012

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