ArticlemedRxiv : the preprint server for health sciences2025
Pathogenic variants in
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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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Authors and funding
34 authors.
Niccolò E MencacciDavee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.ORCID 0000-0003-3383-9665
Georgia MinakakiDavee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.ORCID 0000-0003-1090-4241
Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0001-6763-1542
Raffaella De PaceDivision of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-8179-6869
Adeline PaimboeufInstitut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.ORCID 0009-0000-5822-3088
Patrick ShannonDepartment of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-3309-8118
David ChitayatThe Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0003-1944-7294
Francesca MagrinelliDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.ORCID 0000-0003-4706-6245
Wesley J PengDavee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.ORCID 0000-0003-4683-170X
Diptaman ChatterjeeDavee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.ORCID 0000-0002-7959-7529
Sara H EldessoukyPrenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.ORCID 0000-0001-7572-9128
Julia BaptistaKing's College Hospital, Synnovis, Denmark Hill, London, SE5 9RS and Department of Medical & Molecular Genetics, Faculty of Life Sciences and Medicine, King's College London, UK.ORCID 0000-0003-0915-5028
Tamas MartonCellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, United Kingdom.ORCID 0000-0001-5585-2276
Julie VogtWest Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, United Kingdom.ORCID 0000-0002-7459-0176
Juan Dario Ortigoza-EscobarMovement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain.ORCID 0000-0002-6320-2641
Loreto MartorellDepartment of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain.ORCID 0000-0003-0898-7332
Marta Gómez-ChiariDiagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain.ORCID 0000-0001-6726-1721
Ingrid M WentzensenGeneDx, LLC, Gaithersburg MD 20877 USA.ORCID 0000-0001-6994-1640
Erik-Jan KamsteegDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0001-6480-1892
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.ORCID 0000-0001-7840-0002
Annarita ScardamagliaDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0009-0007-6013-4819
Giovanni ZifarelliCENTOGENE, Am Strande 7, 18055 Rostock, Germany.ORCID 0000-0001-5567-8300
Zuhair Nasser Al-HassnanDepartment of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.ORCID 0000-0002-7173-2044
Elka MillerDepartment of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0003-1075-5952
Shiri ShinarOntario Fetal Center, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0001-6352-4846
Lova S MatsaGenomic Precision Diagnostic Dept., Igenomix FZ LLC, Dubai, UAE.ORCID 0009-0008-8215-3743
Sri Hari Chandan AppikondaGenomic Precision Diagnostic Dept., Igenomix FZ LLC, Dubai, UAE.ORCID 0009-0001-5273-7296
Michael SchwakeBiochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany.ORCID 0000-0002-4173-2166
Mariasavina SeverinoNeuroradiology Unit, IRCCS Institute Giannina Gaslini, Genova, 16147, Italy.ORCID 0000-0003-4730-5322
Henry HouldenDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0002-2866-7777
Shunmoogum A PattenInstitut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.ORCID 0000-0002-2782-3547
Juan S BonifacinoDivision of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-5673-6370
Kailash P BhatiaDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.ORCID 0000-0001-8185-286X
Dimitri KraincDavee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.ORCID 0000-0002-4716-1886
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
$48.3MMechanistic Analysis of Genetic Modifiers in Parkinson's DiseaseR35NS122257 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI DIMITRI KRAINC · 2021 to 2026
$6.8MThe role of ATP13A2/PARK9 in secretion of exosomes and alpha synucleinR37NS096241 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI KRAINC, DIMITRI · 2016 to 2020
$3.1MUnderstanding the role of BORCS5 in neuronal lysosomal function and neurodegenerationK08NS131581 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Niccolo E Mencacci · 2024 to 2026
$673kIntramural NIH HHS ZIA HD001607NINDS NIH HHS K08 NS131581NINDS NIH HHS R35 NS122257NINDS NIH HHS R37 NS096241
Abstract
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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.