Cargando…

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers

BACKGROUND: Five to 25% of patients with PD carry glucocerebrosidase gene mutations, and 10% to 30% of glucocerebrosidase carriers will develop PD by age 80. Stratification of PD risk in glucocerebrosidase carriers provides an opportunity to target disease‐modifying therapies. OBJECTIVE: Cross‐secti...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mullin, Stephen, Beavan, Michelle, Bestwick, Jonathan, McNeill, Alisdair, Proukakis, Christos, Cox, Timothy, Hughes, Derralynn, Mehta, Atul, Zetterberg, Henrik, Schapira, Anthony H.V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790937/ https://www.ncbi.nlm.nih.gov/pubmed/31251436 http://dx.doi.org/10.1002/mds.27775

Ejemplares similares

Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease
por: Zokaei, Nahid, et al.
Publicado: (2014)

Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study()()
por: McNeill, Alisdair, et al.
Publicado: (2013)

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
por: Leija‐Salazar, Melissa, et al.
Publicado: (2019)

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers
por: McNeill, Alisdair, et al.
Publicado: (2012)

Corrigendum to “Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study” [Mol. Genet. Metab. 109 (2013) 221–223]
por: McNeill, Alisdair, et al.
Publicado: (2014)

A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers
por: McNeill, Alisdair, et al.
Publicado: (2012)

Clinical prodromes of neurodegeneration in Anderson-Fabry disease
por: Löhle, Matthias, et al.
Publicado: (2015)

Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease
por: Mullin, Stephen, et al.
Publicado: (2020)

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease
por: Toffoli, Marco, et al.
Publicado: (2021)

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers
por: Yang, Shi-Yu, et al.
Publicado: (2017)

Endoplasmic reticulum and lysosomal Ca(2+) stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts
por: Kilpatrick, Bethan S., et al.
Publicado: (2016)

Novel pathogenic mutations in the glucocerebrosidase locus
por: Duran, Raquel, et al.
Publicado: (2012)

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene
por: Toffoli, Marco, et al.
Publicado: (2022)

No evidence for substrate accumulation in Parkinson brains with GBA mutations
por: Gegg, Matthew E., et al.
Publicado: (2015)

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models
por: Sanchez-Martinez, Alvaro, et al.
Publicado: (2016)

A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease—Identifying Those at the Greatest Risk
por: Becker-Cohen, Michal, et al.
Publicado: (2022)

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
por: McNeill, Alisdair, et al.
Publicado: (2014)

GBA Variants and Parkinson Disease: Mechanisms and Treatments
por: Smith, Laura, et al.
Publicado: (2022)

Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers
por: Moran, Eileen E., et al.
Publicado: (2021)

Who is at Risk of Parkinson Disease? Refining the Preclinical Phase of GBA1 and LRRK2 Variant Carriers: a Clinical, Biochemical, and Imaging Approach
por: Menozzi, Elisa, et al.
Publicado: (2023)

Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease
por: Usenko, Tatiana, et al.
Publicado: (2021)

Is it time for biomarker-based diagnostic criteria for prodromal Alzheimer's disease?
por: Blennow, Kaj, et al.
Publicado: (2010)

Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease
por: Surface, Matthew, et al.
Publicado: (2021)

Somatic Alpha-Synuclein Mutations in Parkinson's Disease: Hypothesis and Preliminary Data
por: Proukakis, Christos, et al.
Publicado: (2013)

Cerebrospinal fluid biomarkers in parkinsonian conditions: an update and future directions
por: Magdalinou, Nadia, et al.
Publicado: (2014)

Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers
por: Menozzi, Elisa, et al.
Publicado: (2021)

Aberrant dopamine transporter and functional connectivity patterns in LRRK2 and GBA mutation carriers
por: Droby, Amgad, et al.
Publicado: (2022)

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease
por: Smith, Laura J., et al.
Publicado: (2022)

Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers
por: Pont-Sunyer, Claustre, et al.
Publicado: (2015)

The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD
por: Straniero, Letizia, et al.
Publicado: (2020)

The Consequences of GBA Deficiency in the Autophagy–Lysosome System in Parkinson’s Disease Associated with GBA
por: Pradas, Eddie, et al.
Publicado: (2023)

Prodromal frontotemporal dementia: clinical features and predictors of progression
por: Benussi, Alberto, et al.
Publicado: (2021)

Cerebrospinal fluid concentrations of inflammatory markers in Parkinson’s disease and atypical parkinsonian disorders
por: Hall, Sara, et al.
Publicado: (2018)

Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model
por: Yang, Shi Yu, et al.
Publicado: (2022)

GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models
por: Morén, Constanza, et al.
Publicado: (2019)

Mass Spectrometric Analysis of Cerebrospinal Fluid Ubiquitin in Alzheimer's Disease and Parkinsonian Disorders
por: Sjödin, Simon, et al.
Publicado: (2017)

Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report
por: Picillo, Marina, et al.
Publicado: (2021)

Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
por: Napolioni, Valerio, et al.
Publicado: (2022)

Editorial for Brain Sciences Special Issue: “Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping”
por: McNeill, Alisdair
Publicado: (2019)

A new impact factor for European Journal of Human Genetics
por: McNeill, Alisdair
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_mutkmr5q7pt1odvsgkrts8eh52