Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease (Q40603461)

6 October 2017

Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease (English)

1 reference

6 October 2017

5

John Q Trojanowski

1 reference

6 October 2017

17

Zbigniew K Wszolek

1 reference

6 October 2017

20

David Eidelberg

1 reference

6 October 2017

22

Martin Niethammer

1 reference

6 October 2017

12

Ted M Dawson

1 reference

6 October 2017

18

Owen A Ross

1 reference

6 October 2017

28

Thomas J Montine

1 reference

6 October 2017

2

Catherine O Johnson

1 reference

6 October 2017

30

Cyrus P Zabetian

1 reference

6 October 2017

25

Brenna A Cholerton

1 reference

6 October 2017

13

Marilyn S Albert

1 reference

6 October 2017

Marie Y Davis

1

1 reference

6 October 2017

James B Leverenz

3

1 reference

6 October 2017

Daniel Weintraub

4

1 reference

6 October 2017

Alice Chen-Plotkin

6

1 reference

6 October 2017

Vivianna M Van Deerlin

7

1 reference

6 October 2017

Joseph F Quinn

8

1 reference

6 October 2017

Kathryn A Chung

9

1 reference

6 October 2017

Amie L Peterson-Hiller

10

1 reference

6 October 2017

Liana S Rosenthal

11

1 reference

6 October 2017

Jennifer G Goldman

14

1 reference

6 October 2017

Glenn T Stebbins

15

1 reference

6 October 2017

Bryan Bernard

16

1 reference

6 October 2017

Dennis W Dickson

19

1 reference

6 October 2017

Paul J Mattis

21

1 reference

6 October 2017

Dora Yearout

23

1 reference

6 October 2017

Shu-Ching Hu

24

1 reference

6 October 2017

Megan Smith

26

1 reference

6 October 2017

Ignacio F Mata

27

1 reference

6 October 2017

Karen L Edwards

29

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6 October 2017

language of work or name

English

0 references

publication date

29 August 2016

1 reference

6 October 2017

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6 October 2017

73

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10

1 reference

6 October 2017

1217-1224

1 reference

Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Association of cognitive domains with postural instability/gait disturbance in Parkinson's disease.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

APOE, MAPT, and SNCA genes and cognitive performance in Parkinson disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Pacific Northwest Udall Center of excellence clinical consortium: study design and baseline cohort characteristics

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Calibration of unified Parkinson's disease rating scale scores to Movement Disorder Society-unified Parkinson's disease rating scale scores

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Clinical differences among mild cognitive impairment subtypes in Parkinson's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

The enigma of the E326K mutation in acid β-glucocerebrosidase

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Systematic review of levodopa dose equivalency reporting in Parkinson's disease.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

The need for neuroprotective therapies in Parkinson's disease: a clinical perspective

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

The Unified Parkinson's Disease Rating Scale (UPDRS): status and recommendations

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Effects of tocopherol and deprenyl on the progression of disability in early Parkinson's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

How to identify tremor dominant and postural instability/gait difficulty groups with the movement disorder society unified Parkinson's disease rating scale: comparison with the unified Parkinson's disease rating scale.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Differential progression of motor impairment in levodopa-treated Parkinson's disease.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Scale presentation and clinimetric testing results

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5056861

Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27571329

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27571329

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMANEUROL.2016.2245

1 reference

6 October 2017

1 reference

6 October 2017

1 reference