(Q28287883)

1

Ziv Gan-Or

0 references

Rachel Saunders-Pullman

4

Rachel Saunders-Pullman

0 references

Nir Giladi

14

Nir Giladi

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Avi Orr-Urtreger

16

Avi Orr-Urtreger

0 references

Laurie Ozelius

2

Laurie J Ozelius

0 references

Anat Bar-Shira

3

Anat Bar-Shira

0 references

Mali Gana-Weisz

7

Mali Gana-Weisz

0 references

Deborah Raymond

8

Deborah Raymond

0 references

Liron Rozenkrantz

9

Liron Rozenkrantz

0 references

Andres Deik

10

Andres Deik

0 references

Tanya Gurevich

11

Tanya Gurevich

0 references

Susan Bressman

15

Susan B Bressman

0 references

author name string

Ruth Kornreich

6

0 references

Susan J Gross

12

0 references

Nicole Schreiber-Agus

Leucine-rich repeat kinase 2 regulates autophagy through a calcium-dependent pathway involving NAADP

13

0 references

language of work or name

English

0 references

publication date

23 April 2013

0 references

published in

Neurology

0 references

volume

80

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issue

17

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page(s)

1606-10

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Regulation of physiologic actions of LRRK2: focus on autophagy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

What genetics tells us about the causes and mechanisms of Parkinson's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Lysosomal function in macromolecular homeostasis and bioenergetics in Parkinson's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Genetic testing in Israel: an overview

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Ashkenazi Jewish genetic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

29 September 2017

Mucolipidosis type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662322

alpha-synuclein degradation by autophagic pathways: a potential key to Parkinson's disease pathogenesis.

27 November 2018

1 reference

12 December 2020

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

1 reference

12 December 2020

Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia

1 reference

12 December 2020

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic 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