ArticleBrain communications2021
International retrospective natural history study of
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in Brain communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05394506 (Identification of Genetic Modifying Factors in Striated Muscle Laminopathies), which is not on this map. Cited by 20 papers.
0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.9field-weighted citation impact, top 13% of its field
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.
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.
Identification of Genetic Modifying Factors in Striated Muscle Laminopathies
Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
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- Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.International journal of molecular sciences · 2024Article
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- Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.Journal of neuromuscular diseases · 2024Article
- Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.PLoS genetics · 2023Article
- 3D human induced pluripotent stem cell-derived bioengineered skeletal muscles for tissue, disease and therapy modeling.Nature protocols · 2023Review
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- In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies.International journal of molecular sciences · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
44 authors at 20 institutions in 14 countries.
Rabah Ben YaouSorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France.
Pomi YunNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Ivana DabajAPHP-Université Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches France.ORCID https://orcid.org/0000-0002-2324-1208
Gina NoratoNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Hui XiongINSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France.ORCID https://orcid.org/0000-0003-4138-2992
Andrés NascimentoDepartment of Pediatrics, Peking University First Hospital, Beijing, China.
Lorenzo MaggiNeuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, CIBERER - ISC III, Barcelona, Spain.
Anna SarkozyNeuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy.
Soledad MongesServicio de Neurología, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
Marta BertoliNorthern Genetics Service, The Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
Hirofumi KomakiDepartment of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Michèle MayerAPHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Department of Neuropediatrics, Hôpital Armand Trousseau, Paris, France.
Eugenio MercuriPaediatric Neurology, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Edmar ZanoteliDepartment of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
Claudia CastiglioniPediatric Neurology Department, Clínica Las Condes, Santiago, Chile.
Chiara Marini-BettoloJohn Walton Muscular Dystrophy Research Centre, Institute of Integrated Laboratory Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
Adele D'AmicoUnit of Muscular and Neurodegenerative diseases, Department of Neurological and Psychiatric science,s Bambino Gesù Children's Hospital, Rome, Italy.
Nicolas DeconinckPaediatric Neurology Department and neuromuscular Center, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
Isabelle DesguerreAPHP-Centre - Université de Paris, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Necker-Enfants Malades Hospital, Paris, France.
Ricardo Erazo-TorricelliNeurología Pediátrica, Unidad Neuromuscular, Hospital Luis Calvo Mackenna, Clínica Alemana de Santiago, Santiago, Chile.
Juliana Gurgel-GiannettiDepartment of Pediatrics, Pediatric Neurology Service, Medical School, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Akihiko IshiyamaDepartment of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Karin S KleinsteuberNeurología Pediátrica Hospital Roberto del Río- Universidad de Chile - Clínica Las Condes Santiago, Chile.
Emmanuelle LagrueCHRU de Tours, Université François Rabelais de Tours, INSERM U1253, Tours, France.
Vincent LaugelDepartment of neuropediatrics, CHU Strasbourg- Hautepierre, Strasbourg, France.
Sandra MercierService de Génétique médicale, INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du Thorax, Nantes, France.
Sonia MessinaUnit of Neurology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Luisa PolitanoCardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania, Naples, Italy.ORCID https://orcid.org/0000-0002-0925-7158
Monique M RyanChildren's Neurosciences Centre, Royal Children's Hospital, Victoria, Australia.
Pascal SabouraudService de Pédiatrie A, Neurologie pédiatrique, CHU de Reims, American Memorial Hospital, Reims, France.
Ulrike ScharaDepartment of Neuropediatrics, Developmental Neurology and Social Pediatrics, Children's Hospital 1, University of Duisburg-Essen, Essen, Germany.
Gabriele SicilianoDepartment of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Liliana VercelliDepartment of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin, Italy.
Thomas VoitNeuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy.
Grace YoonDivisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Rachel AlvarezCongenital Muscle Disease International Registry (CMDIR), Cure CMD, Lakewood, CA, USA.
Francesco MuntoniNeuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy.
Tyler M PiersonDepartments of Pediatrics and Neurology and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID https://orcid.org/0000-0003-1985-3671
David Gómez-AndrésPediatric Neurology (ERN-RND - EURO-NMD), Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
A Reghan FoleyNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Susana Quijano-RoyAPHP-Université Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches France.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Gisèle BonneSorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France.ORCID https://orcid.org/0000-0002-2516-3258
Inserm · FRNational Institutes of Health · USGreat Ormond Street Hospital · GBClínica Las Condes · CLNational Center of Neurology and Psychiatry · JPAgostino Gemelli University Polyclinic · ITBambino Gesù Children's Hospital · ITCedars-Sinai Medical Center · USCentre Hospitalier Universitaire de Reims · FRCentre National de la Recherche Scientifique · FRClínica Alemana · CLCure CMD · USGarrahan Hospital · ARHôpital d'Hautepierre · FRHospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRHospital Sant Joan de Déu Barcelona · ESNewcastle University · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBPeking University · CNRoyal Children's Hospital · AU
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MAbstract
Muscular dystrophies due to heterozygous pathogenic variants in
Indexed as
early onsetlaminopathiesLMNAmuscular dystrophystriated muscle
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
NCT05394506ClinicalTrials.gov
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.