Evidence map›Paper›PMID 35720108›Full record

ArticleFrontiers in neurology2022

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.

Marta Gómez-García de la Banda, Emmanuel Simental-Aldaba, Nagia Fahmy, Damien Sternberg, Patricia Blondy, Susana Quijano-Roy, Edoardo Malfatti

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

Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Pooled it
  2. 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.

Marta Gómez-García de la BandaPediatric Neurology and ICU Department, AP-HP Université Paris Saclay, Hôpital Raymond Poincaré, Garches, France.
Emmanuel Simental-AldabaAPHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor University Hospital, Créteil, France.
Nagia FahmyNeuromuscular Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Damien SternbergEuropean Reference Center Network (Euro-NMD ERN), Paris, France.
Patricia BlondyEuropean Reference Center Network (Euro-NMD ERN), Paris, France.
Susana Quijano-RoyPediatric Neurology and ICU Department, AP-HP Université Paris Saclay, Hôpital Raymond Poincaré, Garches, France.
Edoardo MalfattiReference Center for Neuromuscular Diseases Centre "Nord- Est- Ile de France", FILNEMUS, Creteil, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in

Indexed as

CHRNEcongenital myasthenic syndromeneuromuscular junctionsalbutamolβ2 adrenergic agonists

Identifiers

PMID35720108
PMCPMC9201482

What OpenQuestion holds

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Registered trials

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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.