Search Results - "Bruyland, Marc"
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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Published in Neurobiology of aging (01-03-2017)“…Abstract Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis–(ALS) and frontotemporal dementia–(FTD) associated genes, CHCHD10 and…”
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Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3
Published in Human molecular genetics (01-12-1995)“…Genetic linkage studies have indicated that chromosome 14q24.3 harbours a major locus for early-onset (onset age <65 years) Alzheimer's disease (AD3)…”
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Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
Published in Human molecular genetics (01-06-2010)“…Mutations in CHMP2B cause frontotemporal dementia (FTD) in a large Danish pedigree, which is termed FTD linked to chromosome 3 (FTD-3), and also in an…”
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CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
Published in Human molecular genetics (15-01-2008)“…The charged multivesicular body protein 2B gene (CHMP2B) was recently associated with frontotemporal lobar degeneration (FTLD) linked to chromosome 3 in a…”
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Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3
Published in Nature genetics (01-12-1992)“…Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the beta-amyloid protein precursor gene located in 21q21.3 have indicated that…”
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Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria
Published in Human molecular genetics (01-10-1993)Get more information
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Monoaminergic neurotransmitters in Alzheimer's disease. An HPLC study comparing presenile familial and sporadic senile cases
Published in Journal of the neurological sciences (01-08-1989)“…Norepinephrine, epinephrine, dopamine, serotonin and their major metabolites were measured in 20 regions of the left hemisphere in 4 presenile familial cases…”
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Lower motor neuron disease in a patient with Hodgkin's disease treated with radiotherapy
Published in Clinical neurology and neurosurgery (1984)“…A case of lower motor neuron disease after extended field irradiation for cervical stage IA nodular sclerosing Hodgkin's disease is reported. Recurrence of…”
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