Evidence map›Paper›PMID 38850091›Full record

ArticleMovement disorders clinical practice2024

Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.

Luca Magistrelli, Elena Contaldi, Beatrice Piola, Fjorilda Caushi, Miryam Carecchio, Sandra D'Alfonso, Lucia Corrado

Abstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Movement disorders clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

7 authors.

Luca MagistrelliMovement Disorders Centre, Neurology Unit, Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy.ORCID 0000-0002-9546-8567
Elena ContaldiMovement Disorders Centre, Neurology Unit, Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy.ORCID 0000-0002-0218-5251
Beatrice PiolaDepartment of Health Sciences, Centre of Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale, Novara, Italy.
Fjorilda CaushiDepartment of Health Sciences, Centre of Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale, Novara, Italy.
Miryam CarecchioParkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN-RND), Study Center On Neurodegeneration (CESNE), Department of Neuroscience, University of Padua, Padua, Italy.
Sandra D'AlfonsoDepartment of Health Sciences, Centre of Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale, Novara, Italy.
Lucia CorradoDepartment of Health Sciences, Centre of Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale, Novara, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Cognitive DysfunctionMutationChildChromograninsDystoniaDystonic DisordersFemaleGTP-Binding Protein alpha SubunitsHeterozygoteHumansMaleChromograninsGTP-Binding Protein alpha Subunitsolfactory G protein subunit alpha olfcognitive disabilitygeneralized dystoniaGNAL mutationpediatric dystonia

Identifiers

PMID38850091
PMCPMC11329568

What OpenQuestion holds

Textmetadata
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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.