Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing 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.
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
25 authors.
Yvan de FeraudyDépartement de Médecine Translationelle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Cnrs UMR7104, Inserm U1258, Université de Strasbourg, Illkirch-Graffenstaden, France, unistra.fr.ORCID https://orcid.org/0000-0002-0126-8768
Anthony MainoInserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Univ. Grenoble Alpes, Grenoble, France, univ-grenoble-alpes.fr.ORCID https://orcid.org/0009-0000-1012-8292
Morgane BoedecDépartement de Médecine Translationelle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Cnrs UMR7104, Inserm U1258, Université de Strasbourg, Illkirch-Graffenstaden, France, unistra.fr.
Xavière LornageDépartement de Médecine Translationelle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Cnrs UMR7104, Inserm U1258, Université de Strasbourg, Illkirch-Graffenstaden, France, unistra.fr.
Norma B RomeroMyology Institute, Neuromuscular Morphology Unit, Sorbonne Université, INSERM, GHU Pitié-Salpêtrière, Paris, France, inserm.fr.ORCID https://orcid.org/0000-0001-7714-0069
Celine TardNeurology and Movement Disorders Department, U1172, University Hospital Centre (CHU) de Lille, Reference Centre for Neuromuscular Diseases Nord Est Ile de France, Lille, France.ORCID https://orcid.org/0000-0002-6654-8090
Claude-Alain MaurageNorth-East Ile-de-France Neuromuscular Pathology Reference Center, University Hospital Center of Lille, Lille, France.ORCID https://orcid.org/0000-0002-0229-6461
Marie CsanyiNorth-East Ile-de-France Neuromuscular Pathology Reference Center, University Hospital Center of Lille, Lille, France.
Pascale MarcorellesDepartment of Pathology, University Hospital Morvan, Brest, France.
Tanya StojkovicNord/Est/Ile-de-France Neuromuscular Reference Centre, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France, sorbonne-universites.fr.ORCID https://orcid.org/0000-0002-4054-2838
Leonard FeassonMyology Unit, Reference Center of Rare Neuromuscular Diseases, Euro-NmD, University Hospital of Saint-Etienne, Saint-Etienne, France, chu-st-etienne.fr.ORCID https://orcid.org/0000-0002-8163-5539
Mélanie FradinService de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France, chu-rennes.fr.ORCID https://orcid.org/0000-0002-2535-2198
Gaelle GousseReference Center of Rare Neuromuscular Diseases, Euro-NmD, University Hospital of Saint-Etienne, Saint-Etienne, France, chu-st-etienne.fr.
Vincent LaugelPediatric Neurology Department, Reference Centre for Neuromuscular Disorders, Hautepierre Hospital, Strasbourg, France.ORCID https://orcid.org/0000-0002-5782-6538
Marion MasingueNord/Est/Ile-de-France Neuromuscular Reference Centre, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France, sorbonne-universites.fr.ORCID https://orcid.org/0000-0001-5715-7410
Aleksandra Nadaj-PaklezaReference Center for Neuromuscular Diseases NEIdF and ERN EURO-NMD, Neurology Department, University Hospital of Strasbourg, Strasbourg, France, chru-strasbourg.fr.ORCID https://orcid.org/0009-0002-7212-3918
Jorge Alfredo BevilacquaNeuromuscular Unit, Department of Neurology and Neurosurgery, Hospital Clínico Universidad de Chile and Clínica Davila Recoleta, Santiago, Chile. Department of Anatomy and Legal Medicina, Faculty of Medicine, Universidad de Chile, Santiago, Chile, uchile.cl.ORCID https://orcid.org/0000-0002-0525-9308
Neb Study GroupInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch-Graffenstaden, France.
John RenduInserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Univ. Grenoble Alpes, Grenoble, France, univ-grenoble-alpes.fr.ORCID https://orcid.org/0000-0002-0377-0807
Johann BohmDépartement de Médecine Translationelle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Cnrs UMR7104, Inserm U1258, Université de Strasbourg, Illkirch-Graffenstaden, France, unistra.fr.ORCID https://orcid.org/0000-0001-8019-9504
Valérie BiancalanaDépartement de Médecine Translationelle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Cnrs UMR7104, Inserm U1258, Université de Strasbourg, Illkirch-Graffenstaden, France, unistra.fr.ORCID https://orcid.org/0000-0002-8988-5508
Jocelyn LaporteDépartement de Médecine Translationelle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Cnrs UMR7104, Inserm U1258, Université de Strasbourg, Illkirch-Graffenstaden, France, unistra.fr.ORCID https://orcid.org/0000-0001-8256-5862
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Congenital nemaline myopathies are rare genetic disorders that typically manifest at birth or in childhood, with muscle weakness and respiratory distress. They are characterized by the presence of rod-like structures on the muscle biopsy, or a mix of rods with cores, focal areas with disorganization of oxidative activity. Pathogenic variants in the
Indexed as
Muscle ProteinsMyopathies, NemalineAdolescentAdultChildChild, PreschoolCohort StudiesFemaleGenetic Association StudiesHumansInfantMaleMutationPhenotypeYoung AdultMuscle Proteinsnebulin
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.
Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy. · full record | OpenQuestion