Evidence map›Paper›PMID 33433869›Full record

ArticleAdvances in experimental medicine and biology2021

Clinical Update on C9orf72: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Beyond.

Dario Saracino, Isabelle Le Ber

Abstract read
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In one paragraph

Article in Advances in experimental medicine and biology, 2021. 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
7.9field-weighted citation impact, top 3% 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

2 citing papers in PubMed, 7 citations in OpenAlex.

  1. NAR molecular medicine · 2024
    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

2 authors at 1 institution in 1 country.

Dario SaracinoHôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.
Isabelle Le BerHôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France. isabelle.leber@upmc.fr.
Pitié-Salpêtrière Hospital · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The identification of C9orf72 gene has led to important scientific progresses and has considerably changed our clinical practice. However, a decade after C9orf72 discovery, some important clinical questions remain unsolved. The reliable cutoff for the pathogenic repeat number and the implication of intermediate alleles in frontotemporal dementia, amyotrophic lateral sclerosis, or in other diseases are still uncertain. The occurrence of an anticipation phenomenon - at the clinical and molecular levels - in C9orf72 kindreds is still debated as well, and the factors driving age at onset and phenotype variability are largely unknown. All these questions have a significant impact not only in clinical practice for diagnosis and genetic counseling but also in a research context for the initiation of therapeutic trials. In this chapter, we will address all those issues and summarize the recent updates about clinical aspects of C9orf72 disease, focusing on both the common and the less typical phenotypes.

Indexed as

Amyotrophic Lateral SclerosisFrontotemporal DementiaPick Disease of the BrainC9orf72 ProteinDNA Repeat ExpansionHumansProteinsC9orf72 ProteinC9orf72 protein, humanProteinsAmyotrophic lateral sclerosisAnticipationC9orf72Frontotemporal lobar degeneration

Identifiers

PMID33433869
OpenAlexW3119495065

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.