Evidence map›Paper›PMID 39596609›Full record

ReviewGenes2024

Hereditary Neuromuscular Disorders in Reproductive Medicine.

Agnese Luglio, Elena Maggi, Francesco Nicola Riviello, Alessandro Conforti, Ugo Sorrentino, Daniela Zuccarello

Abstract readReview
In one paragraph

Review in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. 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

6 authors.

Agnese LuglioMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Elena MaggiClinica Eugin Modena, 41126 Modena, Italy.
Francesco Nicola RivielloU.O.C. Laboratorio di Genetica Medica, PO Di Venere-ASL Bari, 70012 Bari, Italy.
Alessandro ConfortiDepartment of Neuroscience, Reproductive Science and Odontostomatology, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0002-5676-0055
Ugo SorrentinoDepartment of Women's and Children's Health, University Hospital of Padova, Via Giustiniani 3, 35128 Padova, Italy.ORCID 0000-0001-8139-6198
Daniela ZuccarelloUnit of Medical Genetics and Genomics, San Bortolo Hospital, ULSS n.8 "Berica", 36100 Vicenza, Italy.ORCID 0000-0001-5826-6715

Funding

European Union PNRR-MR1-2022-12376108
6 · The paper itself

Abstract

Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients' quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot-Marie-Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb-Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn.

Indexed as

Neuromuscular DiseasesCharcot-Marie-Tooth DiseaseFemaleGenetic TestingHumansMuscular Atrophy, SpinalPregnancyPreimplantation DiagnosisPrenatal DiagnosisReproductive MedicineALSCMTdystrophyfertilityneuromuscular disorderspregnancypreimplantation genetic testingprenatal diagnosisreproductive medicineSMA

Identifiers

PMID39596609
PMCPMC11593801

What OpenQuestion holds

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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.