ArticleBrain communications2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Open access · goldAbstract read
In one paragraph
Article in Brain communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
0numbers the graph read from it
0cells of the map it votes in
3citing 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.Brain : a journal of neurology · 2025Article
- Article
- Using cortical organoids to understand the pathogenesis of malformations of cortical development.Frontiers in neuroscience · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
46 authors at 20 institutions in 9 countries.
Andrea AccogliDivision of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal H3G 1A4, Canada.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
Mohammed Al-OwainDepartment of Medical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Mansour Y OtaifDepartment of Pediatric, Neurology Section, Abha Maternity and Childern Hospital, Abha 62521, Saudi Arabia.
Adam JacksonDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
Emanuela ArgilliDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
Kate E ChandlerDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
Christian G E L De GoedeDepartment of Paediatric Neurology, Clinical Research Facility, Lancashire Teaching Hospital NHS Trust, Preston PR2 9HT, UK.
Tülün CoraDepartment of Medical Genetics, Selcuk University School of Medicine, Konya 42100, Turkey.
Javeria Raza AlviDepartment of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.
Atieh EslahiDepartment of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.
Mahsa Sadat Asl MohajeriDepartment of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.
Setareh AshtianiAlberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Alberta T2N 4Z6, Canada.
P Y Billie AuAlberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Alberta T2N 4Z6, Canada.
Alicia ScocchiaBlueprint Genetics Inc, Marlborough, MA 01752, USA.
Kirsi AlakurttiBlueprint Genetics Inc, Marlborough, MA 01752, USA.
Alistair T PagnamentaNIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.ORCID https://orcid.org/0000-0001-7334-0602
Mehran Beiraghi ToosiPediatric Neurology Department, Mashhad University of Medical Sciences, Mashhad 913791-6847, Iran.
Ehsan Ghayoor KarimianiMolecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.
Majid MojarradDepartment of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.
Fatemeh ArabDepartment of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran 1411713135, Iran.
Fahrettin DuymuşDepartment of Medical Genetics, Selcuk University School of Medicine, Konya 42100, Turkey.
Morris H ScantleburyDepartments of Pediatrics and Clinical Neuroscience, University of Calgary; Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute & Owerko Center, University of Calgary, Alberta T2N 4N1, Canada.
Gözde YeşilDepartment of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey.
Jill Anne RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID https://orcid.org/0000-0001-5664-7987
Ayberk TürkyılmazDepartment of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon 61080, Turkey.
Safiye Güneş SağerClinics of Pediatric Neurology, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul 34890, Turkey.
Tipu SultanDepartment of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.
Farah AshrafzadehPediatric Neurology Department, Mashhad University of Medical Sciences, Mashhad 913791-6847, Iran.
Tatheer ZahraDepartment of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan.
Fatima RahmanDepartment of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan.
Shazia MaqboolDepartment of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan.
Mohamed S Abdel-HamidMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
Mahmoud Y IssaClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.ORCID https://orcid.org/0000-0002-3899-2821
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0003-4900-9877
Peter BauerCENTOGENE, Rostock 18057, Germany.
Giovanni ZifarelliCENTOGENE, Rostock 18057, Germany.
Vincenzo SalpietroDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Zuhair Al-HassnanDepartment of Medical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Siddharth BankaDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
Elliot H SherrDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
Joseph G GleesonDepartment of Neurosciences, University of California, San Diego, La Jolla 92093, USA.
Pasquale StrianoDepartment of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa 16132, Italy.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-2866-7777
Mariasavina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16146, Italy.ORCID https://orcid.org/0000-0003-4730-5322
Reza MaroofianDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0001-6763-1542
Mashhad University of Medical Sciences · IRManchester Academic Health Science Centre · GBNational Hospital for Neurology and Neurosurgery · GBNational Research Centre · EGUniversity of Calgary · CABlueprint Medicines (United States) · USCentogene (Germany) · DEIstituto Giannina Gaslini · ITSelçuk University · TRUniversity of California, San Francisco · USAlfaisal University · SABaylor College of Medicine · USCentre for Human Genetics · GBChildren’s Institute · USDr Lütfi Kırdar Kartal Eğitim ve Araştırma Hastanesi · TRIstanbul University · TRKaradeniz Technical University · TRKing Faisal Specialist Hospital & Research Centre · SALancashire Teaching Hospitals NHS Foundation Trust · GBMaternity and Children's Hospital · SA
Funding
Medical Research Council G0601943Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1Wellcome Trust FC001187
Abstract
PubMed holds no abstract for this paper.
Indexed as
corpus callosum hypoplasiaear-of-the-lynx signendoplasmic reticulumLNPKsubstantia nigra
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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.