(Q37098159)

18 August 2017

Whole-Exome Sequencing in Familial Parkinson Disease (English)

1 reference

18 August 2017

1 reference

5

Eric Boerwinkle

0 references

Donna Muzny

19

Donna Muzny

0 references

Tatiana Foroud

26

Tatiana Foroud

0 references

Kaveeta Kaw

Kaveeta Kaw

13

0 references

Janson J. White

Janson White

22

0 references

Tomasz Gambin

Tomasz Gambin

7

0 references

Joseph Jankovic

11

Joseph Jankovic

1 reference

18 August 2017

18

James R Lupski

1 reference

18 August 2017

8

Richard A Gibbs

1 reference

18 August 2017

14

Dongbing Lai

1 reference

18 August 2017

10

Preti Jain

1 reference

18 August 2017

12

Shalini Jhangiani

1 reference

18 August 2017

Janice L Farlow

1

1 reference

18 August 2017

Laurie A Robak

2

1 reference

18 August 2017

Kurt Hetrick

3

1 reference

18 August 2017

Kevin Bowling

4

1 reference

18 August 2017

Zeynep H Coban-Akdemir

6

1 reference

18 August 2017

Shen Gu

9

1 reference

18 August 2017

Hai Lin

15

1 reference

18 August 2017

Hua Ling

16

1 reference

18 August 2017

Yunlong Liu

17

1 reference

18 August 2017

Paula Porter

20

1 reference

18 August 2017

Elizabeth Pugh

21

1 reference

18 August 2017

Kimberly Doheny

23

1 reference

18 August 2017

Richard M Myers

24

1 reference

18 August 2017

Joshua M Shulman

25

1 reference

18 August 2017

language of work or name

English

0 references

publication date

23 November 2015

1 reference

18 August 2017

1 reference

18 August 2017

73

1 reference

18 August 2017

1

1 reference

18 August 2017

68-75

1 reference

Gene Ontology Consortium: going forward

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

A general framework for estimating the relative pathogenicity of human genetic variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

DNAJC13 mutations in 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=4946647

Genic intolerance to functional variation and the interpretation of personal genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in 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=4946647

Tenascins and inflammation in disorders of the nervous system.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Tenascin-R: role in the central nervous system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Exome sequencing as a tool for Mendelian disease gene discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset 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=4946647

VPS35 mutations in 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=4946647

The curious case of phenocopies in families with genetic 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=4946647

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

TNK2 preserves epidermal growth factor receptor expression on the cell surface and enhances migration and invasion of human breast cancer cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Activation of the nonreceptor protein tyrosine kinase Ack by multiple extracellular stimuli

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Expression, synaptic localization, and developmental regulation of Ack1/Pyk1, a cytoplasmic tyrosine kinase highly expressed in the developing and adult brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Gene ontology: tool for the unification of biology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Mutation in the alpha-synuclein gene identified in families with 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=4946647

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

A role for the tyrosine kinase ACK1 in neurotrophin signaling and neuronal extension and branching

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

J1-160 and J1-180 are oligodendrocyte-secreted nonpermissive substrates for cell adhesion

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Expression pattern of ACK1 tyrosine kinase during brain development in the mouse

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4946647

Familial Parkinson's disease: a community-based study

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26595808

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/26595808

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26595808

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMANEUROL.2015.3266

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

26595808

1 reference