Evidence map›Paper›PMID 40304041›Full record

ArticleMovement disorders clinical practice2025

De Novo Variants in Siblings: A Rare Occurrence of Two Unrelated Pathogenic Mutations.

Divyani Garg, Shiny Joy, Tiyasha De, Shahrumi Reza, Ayush Agarwal, Pooja Sharma, Jupita Handique, Ajay Garg, Achal Kumar Srivastava, Mohammed Faruq

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Divyani GargDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.ORCID https://orcid.org/0000-0003-0532-3370
Shiny JoyDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Tiyasha DeDivision of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.
Shahrumi RezaDivision of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.
Ayush AgarwalDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.ORCID https://orcid.org/0000-0003-2303-1961
Pooja SharmaDivision of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.
Jupita HandiqueDivision of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.
Ajay GargDepartment of Neuroimaging and Interventional Neuroradiology, All India Institute of Medical Sciences, New Delhi, India.
Achal Kumar SrivastavaDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.ORCID https://orcid.org/0000-0002-4590-7947
Mohammed FaruqDivision of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.ORCID https://orcid.org/0000-0001-8278-8396

Funding

Indian Council of Medical Research 5/4-5/5/Ad-hoc/Neuro/220/NCD-I (GAP240)
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

de novodystoniageneticsparkinsonismspastic paraplegia

Identifiers

PMID40304041
PMCPMC12999009

What OpenQuestion holds

Textmetadata
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.