A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. - Wikidata - wikimedia - TriplyDB

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

http://www.wikidata.org/entity/Q37346468

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Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease Glucocerebrosidase is shaking up the synucleinopathies Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders Glucocerebrosidase and Parkinson disease: Recent advances Genetic markers in biological fluids for aging-related major neurocognitive disorder Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice Parkinson's disease dementia: convergence of α-synuclein, tau and amyloid-β pathologies.Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance Mitochondrial dysfunction associated with glucocerebrosidase deficiency Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells Tool compounds robustly increase turnover of an artificial substrate by glucocerebrosidase in human brain lysates Neuropsychiatric characteristics of GBA-associated Parkinson disease.Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease.Predicting parkinsonism: new opportunities from Gaucher disease.Induced pluripotent stem cell models of lysosomal storage disorders.Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Disease variants in genomes of 44 centenarians.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.UPDATE ON DEMENTIA WITH LEWY BODIES.Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.Glucocerebrosidase mutations in primary parkinsonism Lewy body dementias.Structural features of membrane-bound glucocerebrosidase and α-synuclein probed by neutron reflectometry and fluorescence spectroscopy.Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.Cognition in movement disorders: where can we hope to be in ten years?Variants associated with Gaucher disease in multiple system atrophy.Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.A novel common variant in DCST2 is associated with length in early life and height in adulthood Glucocerebrosidase depletion enhances cell-to-cell transmission of α-synuclein.Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease.New macrophage models of Gaucher disease offer new tools for drug development Lysosomal Enzyme Glucocerebrosidase Protects against Aβ1-42 Oligomer-Induced Neurotoxicity.Haploinsufficiency of cathepsin D leads to lysosomal dysfunction and promotes cell-to-cell transmission of α-synuclein aggregates ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.Clinical course and prognosis in patients with Gaucher disease and parkinsonism Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.

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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

http://www.wikidata.org/entity/Q37346468

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on June 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

@en

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

@nl

type

label

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

@en

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

@nl

prefLabel

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

@en

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

@nl

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JAMANEUROL.2013.1925

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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

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Benoit I Giasson

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Bernardino Ghetti

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Charles Duyckaerts

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Claudia Landazabal

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David Crosiers

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David M A Mann

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Ellen Sidransky

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Elvira Valeria De Marco

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Grisel Lopez

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Howard I Hurtig

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P2860

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Glucocerebrosidase mutations in subjects with parkinsonism

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy

Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium

GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology.

Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.

The link between the GBA gene and parkinsonism

Glucosidase-beta variations and Lewy body disorders.

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727-735

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10.1001/JAMANEUROL.2013.1925

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6

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70

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Christine Van Broeckhoven

Stuart Pickering-Brown

Ekaterina Rogaeva

Nathan Pankratz

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2013-06-01T00:00:00Z

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236185154

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23588557

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3841974

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