Evidence map›Paper›PMID 31737044›Full record

ArticleFrontiers in genetics2019

The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.

Anett Illés, Dóra Csabán, Zoltán Grosz, Péter Balicza, András Gézsi, Viktor Molnár, Renáta Bencsik, Anikó Gál, Péter Klivényi, Maria Judit Molnar

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 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
0.9field-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, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. TheResearch square · 2024
    Article
  4. Role of Lipids in the Pathogenesis of Parkinson's Disease.International journal of molecular sciences · 2024
    Review
  5. GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Article
  6. Genetic Testing in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023
    Article
  7. Genetic Study of Early Onset Parkinson's Disease in Cyprus.International journal of molecular sciences · 2022
    Article
  8. Review
  9. Article
  10. Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome.International journal of environmental research and public health · 2020
    Review
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

10 authors at 2 institutions in 1 country.

Anett IllésInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Dóra CsabánInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Zoltán GroszInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Péter BaliczaInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
András GézsiInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Viktor MolnárInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Renáta BencsikInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Anikó GálInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Péter KlivényiDepartment of Neurology, University of Szeged, Szeged, Hungary.
Maria Judit MolnarInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
Semmelweis University · HUUniversity of Szeged · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genetic analysis of early-onset Parkinsonian disorder (EOPD) is part of the clinical diagnostics. Several genes have been implicated in the genetic background of Parkinsonism, which is clinically indistinguishable from idiopathic Parkinson's disease. The identification of patient's genotype could support clinical decision-making process and also track and analyse outcomes in a comprehensive fashion. The aim of our study was to analyse the genetic background of EOPD in a Hungarian cohort and to evaluate the clinical usefulness of different genetic investigations. The age of onset was between 25 and 50 years. To identify genetic alterations, multiplex ligation-dependent probe amplification (n = 142), Sanger sequencing of the most common PD-associated genes (n = 142), and next-generation sequencing (n = 54) of 127 genes which were previously associated to neurodegenerative disorders were carried out. The genetic analysis identified several heterozygous damaging substitutions in PD-associated genes (

Indexed as

early- onsetgenetic riskmonogenic formsnext-generation sequencingParkinsonian disordersParkinsonismParkinson’s diseaserisk factors

Identifiers

PMID31737044
PMCPMC6837163
OpenAlexW2987434767

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.