Evidence map›Paper›PMID 31998221›Full record

ArticleFrontiers in neurology2019

Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population.

Alessandro Gialluisi, Mafalda Giovanna Reccia, Alfonsina Tirozzi, Teresa Nutile, Alessia Lombardi, Claudia De Sanctis, International Parkinson's Disease Genomic Consortium (IPDGC), Sara Varanese, Sara Pietracupa, Nicola Modugno and 3 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.8field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. Are Methylation Patterns in theInternational journal of molecular sciences · 2024
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 1 country.

Alessandro GialluisiIRCCS Neuromed, Pozzilli, Italy.
Mafalda Giovanna RecciaIRCCS Neuromed, Pozzilli, Italy.
Alfonsina TirozziIRCCS Neuromed, Pozzilli, Italy.
Teresa NutileInstitute of Genetics and Biophysics, National Research Council, Naples, Italy.
Alessia LombardiIRCCS Neuromed, Pozzilli, Italy.
Claudia De SanctisIRCCS Neuromed, Pozzilli, Italy.
International Parkinson's Disease Genomic Consortium (IPDGC)
Sara VaraneseIRCCS Neuromed, Pozzilli, Italy.
Sara PietracupaIRCCS Neuromed, Pozzilli, Italy.
Nicola ModugnoIRCCS Neuromed, Pozzilli, Italy.
Antonio SimeoneInstitute of Genetics and Biophysics, National Research Council, Naples, Italy.
Marina CiulloIRCCS Neuromed, Pozzilli, Italy.
Teresa EspositoIRCCS Neuromed, Pozzilli, Italy.
Istituto Neurologico Mediterraneo · ITInstitute of Genetics and Biophysics · ITNational Research Council · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Parkinson Disease (PD) is a complex neurodegenerative disorder characterized by large genetic heterogeneity and missing heritability. Since the genetic background of PD can partly vary among ethnicities and neurological scales have been scarcely investigated in a PD setting, we performed an exploratory Whole Exome Sequencing (WES) analysis of 123 PD patients from mainland Italy, investigating scales assessing motor (UPDRS), cognitive (MoCA), and other non-motor symptoms (NMS). We performed variant prioritization, followed by targeted association testing of prioritized variants in 446 PD cases and 211 controls. Then we ran Exome-Wide Association Scans (EWAS) within sequenced PD cases (

Indexed as

cognitive performancegeneticsmotor symptomsnon-motor symptomsParkinson diseasepolygenic scoressubcortical volumeswhole exome sequencing

Identifiers

PMID31998221
PMCPMC6965311
OpenAlexW2999270525

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.