Evidence map›Paper›PMID 39712484›Full record

ArticleFrontiers in genetics2024

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.

Sabrina Lucchiari, Francesco Fortunato, Giovanni Meola, Andrea Mignarri, Serena Pagliarani, Stefania Corti, Giacomo P Comi, Dario Ronchi

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

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Sabrina LucchiariDino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Francesco FortunatoDino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Giovanni MeolaDepartment of Neurorehabilitation Sciences, Casa di Cura Igea, Department of Biomedical Sciences for Health, Fondazione Malattie Miotoniche ETS, University of Milan, Milan, Italy.
Andrea MignarriUnit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Serena PagliaraniFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Stefania CortiDino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Giacomo P ComiDino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Dario RonchiDino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in

Indexed as

CLCN1exonic splicing silencermyotonia congenitasplicingWestern blot

Identifiers

PMID39712484
PMCPMC11659273

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