Cargando…

UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with limited treatment options and an incompletely understood pathophysiology. Although genomewide association studies (GWAS) have advanced our understanding of the disease, the precise manner in which risk polymorphisms contri...

Descripción completa

Detalles Bibliográficos
Autores principales:	Willemse, Sean W, Harley, Peter, van Eijk, Ruben P A, Demaegd, Koen C, Zelina, Pavol, Pasterkamp, R Jeroen, van Damme, Philip, Ingre, Caroline, van Rheenen, Wouter, Veldink, Jan H, Kiernan, Matthew C, Al-Chalabi, Ammar, van den Berg, Leonard H, Fratta, Pietro, van Es, Michael A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2023
Materias:	Neurodegeneration
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359588/ https://www.ncbi.nlm.nih.gov/pubmed/36737245 http://dx.doi.org/10.1136/jnnp-2022-330504

Ejemplares similares

Sensitivity of brain MRI and neurological examination for detection of upper motor neurone degeneration in amyotrophic lateral sclerosis
por: Nitert, Abram D, et al.
Publicado: (2022)

Retrotransposons in the development and progression of amyotrophic lateral sclerosis
por: Savage, Abigail L, et al.
Publicado: (2019)

Transcranial magnetic stimulation and amyotrophic lateral sclerosis: pathophysiological insights
por: Vucic, Steve, et al.
Publicado: (2013)

TDP-43 proteinopathies: a new wave of neurodegenerative diseases
por: de Boer, Eva Maria Johanna, et al.
Publicado: (2021)

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
por: Shepheard, Stephanie R, et al.
Publicado: (2021)

Widespread structural brain involvement in ALS is not limited to the C9orf72 repeat expansion
por: Westeneng, Henk-Jan, et al.
Publicado: (2016)

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias
por: Mehta, Puja R, et al.
Publicado: (2019)

Genetic screening in sporadic ALS and FTD
por: Turner, Martin R, et al.
Publicado: (2017)

Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study
por: Lu, Ching-Hua, et al.
Publicado: (2015)

Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial
por: Willemse, Sean W., et al.
Publicado: (2022)

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis
por: Tan, Harold H. G., et al.
Publicado: (2020)

Cerebrovascular injury as a risk factor for amyotrophic lateral sclerosis
por: Turner, Martin R, et al.
Publicado: (2016)

Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis
por: Saxon, Jennifer A, et al.
Publicado: (2020)

The expanding syndrome of amyotrophic lateral sclerosis: a clinical and molecular odyssey
por: Turner, Martin R, et al.
Publicado: (2015)

A clinical tool for predicting survival in ALS
por: Knibb, Jonathan A, et al.
Publicado: (2016)

Relative preservation of triceps over biceps strength in upper limb-onset ALS: the ‘split elbow’
por: Khalaf, Roaya, et al.
Publicado: (2019)

Hypermetabolism in ALS is associated with greater functional decline and shorter survival
por: Steyn, Frederik J, et al.
Publicado: (2018)

Primary lateral sclerosis: consensus diagnostic criteria
por: Turner, Martin R, et al.
Publicado: (2020)

Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk
por: Menke, Ricarda A L, et al.
Publicado: (2016)

Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
por: Wilson, Katherine M, et al.
Publicado: (2022)

Can regional spreading of amyotrophic lateral sclerosis motor symptoms be explained by prion-like propagation?
por: Kanouchi, Tadashi, et al.
Publicado: (2012)

Imaging the pathoanatomy of amyotrophic lateral sclerosis in vivo: targeting a propagation-based biological marker
por: Kassubek, Jan, et al.
Publicado: (2018)

Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions
por: van der Ende, Emma L., et al.
Publicado: (2021)

Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
por: Manzano, Raquel, et al.
Publicado: (2018)

Higher blood high density lipoprotein and apolipoprotein A1 levels are associated with reduced risk of developing amyotrophic lateral sclerosis
por: Thompson, Alexander G, et al.
Publicado: (2022)

Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
por: Kmetzsch, Virgilio, et al.
Publicado: (2021)

Measuring network disruption in neurodegenerative diseases: New approaches using signal analysis
por: McMackin, Roisin, et al.
Publicado: (2019)

Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia
por: Panman, Jessica L, et al.
Publicado: (2021)

Neuronal network disintegration: common pathways linking neurodegenerative diseases
por: Ahmed, Rebekah M, et al.
Publicado: (2016)

Heterogeneous distribution of tau pathology in the behavioural variant of Alzheimer’s disease
por: Singleton, Ellen, et al.
Publicado: (2021)

Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia
por: van der Ende, Emma L, et al.
Publicado: (2020)

Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia
por: Meeter, Lieke H H, et al.
Publicado: (2019)

Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort
por: Peakman, Georgia, et al.
Publicado: (2022)

Association Between Serum Lipids and Survival in Patients With Amyotrophic Lateral Sclerosis: A Meta-analysis and Population-Based Study
por: Janse van Mantgem, Mark R., et al.
Publicado: (2023)

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
por: McLaughlin, Russell L., et al.
Publicado: (2017)

Validation of the new consensus criteria for the diagnosis of corticobasal degeneration
por: Alexander, S K, et al.
Publicado: (2014)

Flavour identification in frontotemporal lobar degeneration
por: Omar, Rohani, et al.
Publicado: (2013)

Posiphen as a candidate drug to lower CSF amyloid precursor protein, amyloid-β peptide and τ levels: target engagement, tolerability and pharmacokinetics in humans
por: Maccecchini, Maria L, et al.
Publicado: (2012)

Executive, language and fluency dysfunction are markers of localised TDP-43 cerebral pathology in non-demented ALS
por: Gregory, Jenna M, et al.
Publicado: (2020)

Neurofilament light chain and tau concentrations are markedly increased in the serum of patients with sporadic Creutzfeldt-Jakob disease, and tau correlates with rate of disease progression
por: Thompson, Andrew Geoffrey Bourne, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_6gqr18mf4p4hak0dl8rkqk537d