Search Results - "Sieben, Anne"
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Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
Published in Scientific reports (12-02-2016)“…Hexanucleotide repeat expansions in C9orf72 are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) (c9ALS/FTD)…”
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The genetics and neuropathology of frontotemporal lobar degeneration
Published in Acta neuropathologica (01-09-2012)“…Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders characterized by disturbances of behavior and personality and different types of…”
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CSF proteome profiling reveals biomarkers to discriminate dementia with Lewy bodies from Alzheimer´s disease
Published in Nature communications (13-09-2023)“…Diagnosis of dementia with Lewy bodies (DLB) is challenging and specific biofluid biomarkers are highly needed. We employed proximity extension-based assays to…”
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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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The Electrophysiological Correlates of Phoneme Perception in Primary Progressive Aphasia: A Preliminary Case Series
Published in Frontiers in human neuroscience (02-06-2021)“…Aims : This study aimed to investigate phoneme perception in patients with primary progressive aphasia (PPA) by using the event-related potential (ERP)…”
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NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients
Published in Neurobiology of aging (01-01-2018)“…We evaluated the genetic impact of the amyotrophic lateral sclerosis (ALS) risk gene never in mitosis gene a–related kinase 1 (NEK1) in a Belgian cohort of 278…”
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Suprasternal Bronchogenic Cyst in an 8-Year-Old Girl
Published in B-ENT (Leuven) (01-10-2023)Get full text
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Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis
Published in Neurobiology of disease (01-08-2021)“…Neurodegenerative disorders like frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are pathologically characterized by toxic protein…”
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Distinct [18F]THK5351 binding patterns in primary progressive aphasia variants
Published in European journal of nuclear medicine and molecular imaging (01-12-2018)“…Purpose To assess the binding of the PET tracer [ 18 F]THK5351 in patients with different primary progressive aphasia (PPA) variants and its correlation with…”
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Therapy-Induced Electrophysiological Changes in Primary Progressive Aphasia: A Preliminary Study
Published in Frontiers in human neuroscience (31-03-2022)“…This preliminary study aimed to investigate therapy-induced electrophysiological changes in persons with primary progressive aphasia (PPA). The investigated…”
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Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration
Published in Alzheimer's research & therapy (20-03-2018)“…We explored the diagnostic performance of cerebrospinal fluid (CSF) biomarkers in allowing differentiation between frontotemporal lobar degeneration (FTLD) and…”
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Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease
Published in Acta neuropathologica communications (12-02-2021)“…Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD)…”
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Brain age as a biomarker for pathological versus healthy ageing - a REMEMBER study
Published in Alzheimer's research & therapy (14-06-2024)“…This study aimed to evaluate the potential clinical value of a new brain age prediction model as a single interpretable variable representing the condition of…”
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Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
Published in Alzheimer's research & therapy (11-09-2020)“…Abstract Background Alzheimer’s disease (AD) mutations in amyloid precursor protein ( APP ) and presenilins ( PSENs ) could potentially lead to the production…”
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15
Proteomic Assessment of C57BL/6 Hippocampi after Non-Selective Pharmacological Inhibition of Nitric Oxide Synthase Activity: Implications of Seizure-like Neuronal Hyperexcitability Followed by Tauopathy
Published in Biomedicines (22-07-2022)“…Nitric oxide (NO) is a small gaseous signaling molecule responsible for maintaining homeostasis in a myriad of tissues and molecular pathways in neurology and…”
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Single-word comprehension deficits in the nonfluent variant of primary progressive aphasia
Published in Alzheimer's research & therapy (18-07-2018)“…A subset of patients with the nonfluent variant of primary progressive aphasia (PPA) exhibit concomitant single-word comprehension problems, constituting a…”
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Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family
Published in Alzheimer's research & therapy (22-01-2018)“…In this paper, we describe the clinical and neuropathological findings of nine members of the Belgian progranulin gene (GRN) founder family. In this family,…”
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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
Published in Alzheimer's research & therapy (14-07-2017)“…The Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarkers Aβ , t-tau, and p-tau overlap with other diseases. New tau modifications or epitopes, such as…”
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Monoaminergic impairment in Down syndrome with Alzheimer's disease compared to early-onset Alzheimer's disease
Published in Alzheimer's & dementia : diagnosis, assessment & disease monitoring (2018)“…People with Down syndrome (DS) are at high risk for Alzheimer's disease (AD). Defects in monoamine neurotransmitter systems are implicated in DS and AD but…”
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Narratives of Hope and Grief in Higher Education
Published in Palgrave Macmillan (2020)“…This collection weaves together the personal narratives of a group of diverse scholars in academia in order to reflect on the ways that grief and hope matter…”
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