Evidence map›Paper›PMID 38481935›Full record

ArticleJournal of pediatric neurology : JPN2023

DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia.

Alexander S Wang, Gabrielle Lemire, Grace E VanNoy, Christina Austin-Tse, Anne O'Donnell-Luria, Camilla Kilbane

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of pediatric neurology : JPN, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. A De NovoBiomolecules · 2025
    Article
  3. De NovoInternational journal of molecular sciences · 2025
    Review
  4. Clinical and genetic characterization ofFrontiers in pediatrics · 2025
    Article
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

6 authors.

Alexander S WangDepartment of Neurology, University Hospitals Cleveland Medical Center, Cleveland, OH, USA, 44106.
Gabrielle LemireCenter for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA, 02142.
Grace E VanNoyCenter for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA, 02142.
Christina Austin-TseCenter for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA, 02142.
Anne O'Donnell-LuriaCenter for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA, 02142.
Camilla KilbaneDepartment of Neurology, University Hospitals Cleveland Medical Center, Cleveland, OH, USA, 44106.

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
NHGRI NIH HHS R01 HG009141NHGRI NIH HHS UM1 HG008900
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ataxiaDLP1DNM1Ldystoniamitochondrialneuropathysensory neuronopathyspasticity

Identifiers

PMID38481935
PMCPMC10932615

What OpenQuestion holds

Textmetadata
LicenceTDM
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.