(Q39117185)

9 September 2017

title

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

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9 September 2017

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Leonor Correia Guedes

Leonor Correia Guedes

13

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Stefano Goldwurm

Stefano Goldwurm

25

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Rosanna Asselta

Rosanna Asselta

17

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Aldo Quattrone

Aldo Quattrone

22

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Jun Wang

29

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9 September 2017

26

Eduardo Tolosa

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9 September 2017

Francesc Valldeoriola

18

Francesc Valldeoriola

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9 September 2017

20

Gianni Pezzoli

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9 September 2017

30

Vincenzo Bonifati

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9 September 2017

24

Grazia Annesi

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9 September 2017

16

Patrizia Tarantino

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9 September 2017

27

Ben A Oostra

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9 September 2017

3

Giovanni Cossu

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9 September 2017

Marialuisa Quadri

1

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9 September 2017

Xu Yang

2

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9 September 2017

Simone Olgiati

4

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9 September 2017

Valeria M Saddi

5

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9 September 2017

Guido J Breedveld

6

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9 September 2017

Limei Ouyang

7

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9 September 2017

Jingchu Hu

8

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9 September 2017

Na Xu

9

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9 September 2017

Josja Graafland

10

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9 September 2017

Valeria Ricchi

11

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9 September 2017

Daniela Murgia

12

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9 September 2017

Claudio Mariani

14

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9 September 2017

Maria J Marti

15

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9 September 2017

Monica Gagliardi

19

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9 September 2017

Mario Ezquerra

21

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9 September 2017

Joaquim Ferreira

23

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9 September 2017

Maurizio Melis

28

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9 September 2017

publication date

8 October 2014

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9 September 2017

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9 September 2017

volume

16

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9 September 2017

issue

1

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9 September 2017

page(s)

55-64

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Epidemiology and etiology of Parkinson's disease: a review of the evidence

9 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

Genetics of Parkinson's disease--state of the art, 2013.

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The genetics of Parkinson's disease: progress and therapeutic implications

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Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

21 January 2018

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Use of population isolates for mapping complex traits

21 January 2018

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Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland

21 January 2018

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Reconstruction of human evolution: bringing together genetic, archaeological, and linguistic data

21 January 2018

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Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect

21 January 2018

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Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

21 January 2018

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Pooled association tests for rare variants in exon-resequencing studies

21 January 2018

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

21 January 2018

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Parkinsonism: onset, progression, and mortality

21 January 2018

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21 January 2018

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

21 January 2018

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Worldwide frequency of G2019S LRRK2 mutation in Parkinson's disease: a systematic review.

21 January 2018

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

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The link between the GBA gene and parkinsonism

21 January 2018

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Exome sequencing and the genetic basis of complex traits

21 January 2018

1 reference

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Replication strategies for rare variant complex trait association studies via next-generation sequencing

21 January 2018

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SCAPER, a novel cyclin A-interacting protein that regulates cell cycle progression

21 January 2018

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Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene

21 January 2018

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Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

21 January 2018

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A 360-kb interchromosomal duplication of the human HYDIN locus

21 January 2018

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Merlin and the ERM proteins--regulators of receptor distribution and signaling at the cell cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

LRRK2 phosphorylates moesin at threonine-558: characterization of how Parkinson's disease mutants affect kinase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

Phosphorylation of ezrin/radixin/moesin proteins by LRRK2 promotes the rearrangement of actin cytoskeleton in neuronal morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

Parkinson's disease and alpha synuclein: is Parkinson's disease a prion-like disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

Gamma-synucleinopathy: neurodegeneration associated with overexpression of the mouse protein

21 January 2018

1 reference

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Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease

21 January 2018

1 reference

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Deletion of multimerin-1 in alpha-synuclein-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

OGFOD1, a member of the 2-oxoglutarate and iron dependent dioxygenase family, functions in ischemic signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

OGFOD1, a novel modulator of eukaryotic translation initiation factor 2alpha phosphorylation and the cellular response to stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

Regulated protein aggregation: stress granules and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0425-X

A human ubiquitin-conjugating enzyme homologous to yeast UBC8

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25294124

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-014-0425-X

1 reference

9 September 2017

1 reference