Evidence map›Paper›PMID 40671875›Full record

ArticleClinical parkinsonism & related disorders2025

Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, Silvia Falliano, Federica Feo, Francesca Cardona, Camilla Matassini, Guido Mannaioni, Giulia Grigioni, Luca Caremani and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical parkinsonism & related disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

15 authors.

Rodolfo ToninDepartment of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.
Silvia RamatParkinson Unit, AOU Careggi, Florence, Italy.
Marina RinaldiDepartment of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.
Silvia FallianoDepartment of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.
Federica FeoDepartment of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.
Francesca CardonaDepartment of Chemistry "Ugo Schiff", (DICUS), University of Florence, Italy.
Camilla MatassiniDepartment of Chemistry "Ugo Schiff", (DICUS), University of Florence, Italy.
Guido MannaioniDepartment of NEUROFARBA, University of Florence, Italy.
Giulia GrigioniParkinson Unit, AOU Careggi, Florence, Italy.
Luca CaremaniParkinson Unit, AOU Careggi, Florence, Italy.
Alessandra GovoniParkinson Unit, AOU Careggi, Florence, Italy.
Maria Luisa Della BonaDepartment of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.
Giancarlo la MarcaDepartment of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.
Renzo GuerriniDepartment of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.
Amelia MorroneDepartment of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: heterozygous mutations in the glucocerebrosidase gene ( Methods: We screened GCase enzyme activity on Dried Blood Spot using tandem mass spectrometry (LC-MS/MS) and performed sequencing analysis on entire cohort of PD patients by Next Generation Sequencing (NGS) technology. Variants were confirmed with Sanger method. Results: among the 252 PD patients, we detected reduced GCase activity (≤5 μmol/h/L) in 78 (31%). NGS analysis identified 22 carriers of Conclusions: 8.7% of the 252 PD patients carried

Indexed as

GBA1 geneGBA1 gene carrierGCase activity, GBA1-ParkinsonParkinson’s disease

Identifiers

PMID40671875
PMCPMC12264215

What OpenQuestion holds

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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.