ArticlemedRxiv : the preprint server for health sciences2025
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Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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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
0 citing papers in PubMed.
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Authors and funding
39 authors.
Raffaella De PaceDivision of Neurosciences & Cellular Structure, Eunice Kennedy Shiver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Carlos Dominguez GonzalezDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Chad D WilliamsonDivision of Neurosciences & Cellular Structure, Eunice Kennedy Shiver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Guy HelmanDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Leslie E SandersonDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000CA, The Netherlands.ORCID 0000-0002-8026-406X
Brianna DisanzaDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Nicole Hsiao-SánchezDivision of Neurosciences & Cellular Structure, Eunice Kennedy Shiver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Amy PizzinoDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Kayla MuirheadDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Joshua L BonkowskyDivision of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84113, USA.ORCID 0000-0001-8775-147X
Ryan J TaftIllumina, Inc., San Diego, CA 92122, USA.
Nouriya A SannaaJohn Hopkins Aramco Health Care, Gharb Al Dhahran, Dhahran 31311, Saudi Arabia.
Patricia DiasServiço de Genética Médica, Unidade Local de Saúde de Santa Maria, Lisboa 1649-035, Portugal.
Ana Sofia QuintasServiço de Pediatria - Unidade de Neuropediatria, Unidade Local de Saúde de Santa Maria, Lisboa 1649-028, Portugal.
Mehmet Burak MutluDETAGEN Genetic Disease Evaluation Center, Kayseri Province, 38000, Turkey.
Hasan BasIntergen Genetics and Rare Diseases Diagnosis Center, Ankara, 06510, Turkey.
Hasan OztürkIntergen Genetics and Rare Diseases Diagnosis Center, Ankara, 06510, Turkey.
Majid MojarradDepartment of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, 91771, Iran.
Masoome AlerasoolDepartment of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, 91771, Iran.
Shahriar SheikhaniPediatric Department, Valiasr Hospital, Birjand University of Medical Sciences, Birjand, 97179 64151, Iran.
Hayder Kadhim JabbarDepartment of Paediatrics, Al-Sayyab Teaching Hospital, Basrah, 61030, Iraq.
Awatif Hameed IssaDepartment of Neurology, University of Basrah, Basrah, 61004, Iraq.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0002-2866-7777
Emir ZonicCENTOGENE GmbH, Rostock, 18055, Germany.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000CA, The Netherlands.ORCID 0000-0003-1231-1562
Kornelia TripolskiCENTOGENE GmbH, Rostock, 18055, Germany.
Antonio RomitoCENTOGENE GmbH, Rostock, 18055, Germany.
Eden TeferedegnDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Arastoo VossoughDepartment of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-1346-427X
Matthew T WhiteheadDepartment of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elizabeth BhojDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Rebecca C Ahrens-NicklasDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Cas SimonsCenter for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Ernst WolvetangStem Cell Engineering Group, Australian Institute for Bioengineering and Nanotechnology, University of Queensland, 4067, Australia.
Tjakko J van HamDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000CA, The Netherlands.ORCID 0000-0002-2175-8713
Aida M Bertoli-AvellaCENTOGENE GmbH, Rostock, 18055, Germany.
Reza MaroofianDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0001-6763-1542
Juan S BonifacinoDivision of Neurosciences & Cellular Structure, Eunice Kennedy Shiver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Adeline VanderverDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Funding
Protein Trafficking In The Endosomal-Lysosomal SystemZIAHD001607 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI BONIFACINO, JUAN · 2009 to 2025
$48.3MValidation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3MREGULATION OF THE FATE OF NEWLY SYNTHESIZED PROTEINSZ01HD001607 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI BONIFACINO, JUAN · 1991 to 2008
$4.4MIntramural NIH HHS Z01 HD001607Intramural NIH HHS ZIA HD001607NINDS NIH HHS U54 NS115052
Abstract
PubMed holds no abstract for this paper.
Indexed as
AutophagyBLOC-1BLOC1S1BORCLeukodystrophyLysosomesNeurodevelopmental disorder
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LicenceCC BY-NC-ND
Read underepoch 390
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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.