Evidence map›Paper›PMID 35252561›Full record

ArticleNeurology. Genetics2022

Novel

Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 58% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Review
  3. 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

7 authors at 1 institution in 1 country.

Francesco NicitaGenetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-5612-821X
Lorena TravagliniGenetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Francesco BombelliGenetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Michele TosiGenetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Stefano ProGenetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Enrico BertiniGenetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0001-9276-4590
Adele D'AmicoGenetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bambino Gesù Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo report a novel association between pathogenic variants in the

methodsClinical exome sequencing was performed in an adult patient with a genetically unsolved neurodegenerative disorder. The main clinical, neuroimaging, and genetic data were described.

resultsThe c.865C > T (p.P289S) and c.1297T > C (p.Y433H) missense variants in DISCUSSION: This case represents a novel form of early-onset pyramidal syndrome with optic nerve hypoplasia, which slowly evolved to extrapyramidal syndrome featuring dystonia-parkinsonism, associated with TCC, caused by

Identifiers

PMID35252561
PMCPMC8893591
OpenAlexW4214903642

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.