Search Results - "ROBBERECHT, WIM"
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The changing scene of amyotrophic lateral sclerosis
Published in Nature reviews. Neuroscience (01-04-2013)“…Key Points Amyotrophic lateral sclerosis (ALS) is a clinical, genetic and pathogenic heterogenous condition. It lies at one end of a spectrum of a single…”
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The phenotypic variability of amyotrophic lateral sclerosis
Published in Nature reviews. Neurology (01-11-2014)“…Key Points Amyotrophic lateral sclerosis (ALS) is a highly heterogeneous entity Cognitive impairment is a common feature of ALS: frontotemporal dementia and…”
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3
Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease
Published in Lancet neurology (01-03-2011)“…Summary Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS) are characterised by the…”
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RNA toxicity in non‐coding repeat expansion disorders
Published in The EMBO journal (02-01-2020)“…Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat…”
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A revision of the El Escorial criteria - 2015
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (27-08-2015)Get full text
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Modelling amyotrophic lateral sclerosis: progress and possibilities
Published in Disease models & mechanisms (01-05-2017)“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects the motor system and presents with progressive muscle weakness. Most…”
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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
Published in Nature neuroscience (01-09-2015)“…C9orf72 mutations are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. With unbiased screens in Saccharomyces cerevisiae ,…”
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HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients
Published in Nature communications (11-10-2017)“…Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder due to selective loss of motor neurons (MNs). Mutations in the fused in…”
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Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo
Published in Human molecular genetics (01-08-2017)“…Loss of function mutations in progranulin (GRN) cause frontotemporal dementia, but how GRN haploinsufficiency causes neuronal dysfunction remains unclear. We…”
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Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics
Published in Molecular cell (16-03-2017)“…Liquid-liquid phase separation (LLPS) of RNA-binding proteins plays an important role in the formation of multiple membrane-less organelles involved in RNA…”
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HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease
Published in Nature medicine (01-08-2011)“…Charcot-Marie-Tooth type 2 disease is characterized by peripheral axon loss and motor and sensory dysfunction. Constantin d'Ydewalle et al . demonstrate that…”
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HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease
Published in Brain (London, England : 1878) (01-03-2018)“…Patients with Charcot-Marie-Tooth disease with predominant axonal loss (CMT2) show extensive genetic heterogeneity. Benoy et al. demonstrate a link between…”
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13
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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14
Molecular Dissection of FUS Points at Synergistic Effect of Low-Complexity Domains in Toxicity
Published in Cell reports (Cambridge) (17-07-2018)“…RNA-binding protein aggregation is a pathological hallmark of several neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and…”
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15
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
Published in Nature medicine (01-09-2012)“…Epha4 is a receptor involved in axonal repulsion. Wim Robberecht and his colleagues report that genetic or pharmacological inhibition of Epha4 is protective in…”
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Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival
Published in The Journal of cell biology (07-04-2008)“…Recently, mutations in the progranulin (PGRN) gene were found to cause familial and apparently sporadic frontotemporal lobe dementia (FTLD). Moreover, missense…”
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Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis: A prospective study
Published in Annals of neurology (01-07-2011)“…Objective: Early and accurate diagnosis of amyotrophic lateral sclerosis (ALS) is important for patient care and for entry in clinical trials. Retrospective…”
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Inhibition of histone deacetylase 6 (HDAC6) protects against vincristine-induced peripheral neuropathies and inhibits tumor growth
Published in Neurobiology of disease (01-03-2018)“…As cancer is becoming more and more a chronic disease, a large proportion of patients is confronted with devastating side effects of certain anti-cancer drugs…”
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Astrocyte-derived Jagged-1 mitigates deleterious Notch signaling in amyotrophic lateral sclerosis
Published in Neurobiology of disease (01-11-2018)“…Amyotrophic lateral sclerosis (ALS) is a late-onset devastating degenerative disease mainly affecting motor neurons. Motor neuron degeneration is accompanied…”
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Progranulin reduces insoluble TDP-43 levels, slows down axonal degeneration and prolongs survival in mutant TDP-43 mice
Published in Molecular neurodegeneration (16-10-2018)“…TAR DNA binding protein 43 (TDP-43) is the main disease protein in most patients with amyotrophic lateral sclerosis (ALS) and about 50% of patients with…”
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