(Q34500305)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26528954%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease (English)

1 reference

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28 February 2020

1 reference

3

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28 February 2020

Jonas Alex Morales Saute

5

1 reference

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Carlos Roberto Mello Rieder

28 February 2020

19

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28 February 2020

16

Laura Bannach Jardim

1 reference

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28 February 2020

author name string

Simone Olgiati

1

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28 February 2020

Marialuisa Quadri

2

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28 February 2020

Janneke P M A Rood

4

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28 February 2020

Hsin Fen Chien

6

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28 February 2020

Christian G Bouwkamp

7

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28 February 2020

Josja Graafland

8

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28 February 2020

Michelle Minneboo

9

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28 February 2020

Guido J Breedveld

10

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28 February 2020

Jianguo Zhang

11

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28 February 2020

International Parkinsonism Genetics Network

12

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28 February 2020

Frans W Verheijen

13

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28 February 2020

Agnita J W Boon

14

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28 February 2020

Anneke J A Kievit

15

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28 February 2020

Wim Mandemakers

17

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28 February 2020

Egberto Reis Barbosa

18

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28 February 2020

Klaus L Leenders

20

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28 February 2020

Jun Wang

21

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28 February 2020

Vincenzo Bonifati

22

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28 February 2020

publication date

14 January 2016

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28 February 2020

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28 February 2020

volume

79

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28 February 2020

issue

2

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28 February 2020

page(s)

244-256

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

28 February 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays

21 January 2018

1 reference

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

21 January 2018

1 reference

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

21 January 2018

1 reference

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures

21 January 2018

1 reference

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

21 January 2018

1 reference

Molecular mechanisms of presynaptic membrane retrieval and synaptic vesicle reformation

21 January 2018

1 reference

DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.

21 January 2018

1 reference

Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.

21 January 2018

1 reference

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

21 January 2018

1 reference

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

Identification of deleterious mutations within three human genomes

21 January 2018

1 reference

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

Predicting the functional impact of protein mutations: application to cancer genomics

21 January 2018

1 reference

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

Improved splice site detection in Genie

21 January 2018

1 reference

GeneSplicer: a new computational method for splice site prediction

21 January 2018

1 reference

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

T-Coffee: A novel method for fast and accurate multiple sequence alignment

21 January 2018

1 reference

Structure−Function Analysis of the Auxilin J-Domain Reveals an Extended Hsc70 Interaction Interface,

21 January 2018

1 reference

Structural Basis of J Cochaperone Binding and Regulation of Hsp70

21 January 2018

1 reference

UCSF Chimera--a visualization system for exploratory research and analysis

21 January 2018

1 reference

Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission

21 January 2018

1 reference

Evaluating strategies to normalise biological replicates of Western blot data

21 January 2018

1 reference

Whole-genome sequence variation, population structure and demographic history of the Dutch population

21 January 2018

1 reference

Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro

21 January 2018

1 reference

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

21 January 2018

1 reference

Role of auxilin in uncoating clathrin-coated vesicles.

21 January 2018

1 reference

Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice

21 January 2018

1 reference

Essential role of phosphoinositide metabolism in synaptic vesicle recycling

21 January 2018

1 reference

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

21 January 2018

1 reference

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

21 January 2018

1 reference

LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis

21 January 2018

1 reference

SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination

21 January 2018

1 reference

21 January 2018

1 reference

Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis

21 January 2018

1 reference

Alpha-synuclein promotes SNARE-complex assembly in vivo and in vitro

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24553

1 reference

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28 February 2020

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