Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations (Q36041420)

11 August 2017

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations (English)

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11 August 2017

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11

Guy A Rouleau

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Ziv Gan-Or

10

object named as

Ziv Gan-Or

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Sheng-Han Kuo

object named as

Sheng-Han Kuo

6

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Stanley Fahn

4

object named as

Stanley Fahn

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11 August 2017

1

Roy N Alcalay

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11 August 2017

16

Karen Marder

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11 August 2017

13

Pavlina Wolf

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11 August 2017

Oren A Levy

2

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11 August 2017

Cheryl C Waters

3

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11 August 2017

Blair Ford

5

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11 August 2017

Pietro Mazzoni

7

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11 August 2017

Michael W Pauciulo

8

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11 August 2017

William C Nichols

9

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11 August 2017

Wendy K Chung

12

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11 August 2017

Petra Oliva

14

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11 August 2017

Joan Keutzer

15

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11 August 2017

Xiaokui Zhang

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11 August 2017

language of work or name

English

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publication date

27 June 2015

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11 August 2017

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11 August 2017

138

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11 August 2017

2648-2658

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11 August 2017

Pt 9

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iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Knowledge of and interest in genetic results among Parkinson disease patients and caregivers

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Interplay of LRRK2 with chaperone-mediated autophagy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

The link between the GBA gene and parkinsonism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

The enigma of the E326K mutation in acid β-glucocerebrosidase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

A mutation in SCARB2 is a modifier in Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Association of glucocerebrosidase mutations with dementia with lewy bodies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Mutations for Gaucher disease confer high susceptibility to Parkinson disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Automated identification of single nucleotide polymorphisms from sequencing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Glucocerebrosidase mutations in subjects with parkinsonism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Accuracy of family history data on Parkinson's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Occurrence of Parkinson's syndrome in type I Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564023

Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (Type 3) of Gaucher disease

23 September 2018

1 reference

12 December 2020

Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate

1 reference

12 December 2020

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

1 reference

12 December 2020

Increased incidence of Parkinson disease among relatives of patients with Gaucher disease

1 reference

12 December 2020

Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease

1 reference

12 December 2020

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

1 reference

12 December 2020

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry

1 reference

12 December 2020

An improved high-throughput dried blood spot screening method for Gaucher disease

1 reference

12 December 2020

Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWV179

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11 August 2017

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11 August 2017

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