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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Authors and funding
56 authors.
Mridul JohariHarry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.ORCID 0000-0002-3549-558X
Chiara FollandHarry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.ORCID 0000-0002-6346-4828
Yoshihiko SaitoDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.ORCID 0000-0003-1643-4797
Machteld M OudDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-4864-9346
Jevin M ParmarHarry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.ORCID 0000-0003-1864-8094
Ana TöpfJohn Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.ORCID 0009-0003-6050-8519
Sergei KurbatovResearch Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, Russian Federation.ORCID 0000-0002-8886-5222
Maria AmpleevaIndependent Clinical Bioinformatics Laboratory, Moscow, Russia.ORCID 0000-0003-2185-4753
Ekaterina Y ZakharovaResearch Centre for Medical Genetics, Moscow, Russia.
Irina A ChekmarevaFederal State Budgetary Institution "National Medical Research Center of Surgery named after A. Vishnevsky", Ministry of Health of the Russian Federation, Moscow, Russia.ORCID 0000-0003-0126-4473
Ksenia S ShirokovaResearch Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, Russian Federation.
Dmitrii AtiakshinRUDN University, Moscow, Russian Federation.ORCID 0000-0002-8347-4556
Thatjana GardeitchikDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.
Erik-Jan KamsteegDept Human Genetics, Radboudumc, Nijmegen, The Netherlands.ORCID 0000-0001-6480-1892
Evita MediciDept Neurology, Erasmus University Medical Center Rotterdam, The Netherlands.ORCID 0000-0002-7744-1352
Laura Donker KaatDept Clinical Genetics, Erasmus University Medical Center Rotterdam, The Netherlands.ORCID 0009-0007-2436-0931
Christine C BruelsGreg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.ORCID 0000-0001-8366-3691
Seth A StafkiGreg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.ORCID 0009-0006-7922-3910
Elicia A EstrellaDivision of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School.ORCID 0000-0001-6983-1070
Hannah R LittelGreg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.ORCID 0009-0007-6399-788X
Louis M KunkelDivision of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School.ORCID 0000-0001-6126-0242
Peter B KangGreg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.ORCID 0000-0002-4270-7325
Ikeoluwa Osei-OwusuProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lynn PaisProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Melaine O'LearyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Christina Austin-TseProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Anne O'Donnell-LuriaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Brian MangilogProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Francesca Clementina RadioMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.ORCID 0000-0003-1993-8018
Adele D'AmicoNeuromuscular and neurodegenerative disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.ORCID 0000-0003-2438-2624
Andrea CiolfiMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.ORCID 0000-0002-6191-0978
Marco TartagliaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.ORCID 0000-0001-7736-9672
Aurélien PerrinLaboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Charles Van GoethemLaboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Guilhem SoleNeurology and Neuromuscular Diseases Department, Neuromuscular Reference Centre AOC, FILNEMUS, EURO-NMD, Pellegrin Hospital, Bordeaux University Hospitals, Bordeaux, France.
Marie-Laure Martin-NégrierPathology Department, University Hospital of Bordeaux, France. Univ. Bordeaux, CNRS UMR5293, Bordeaux, France.
Mireille CosséeLaboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Casie A GenettiDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research,Boston Children's Hospital, Harvard Medical School, Boston MA 02115, USA.ORCID 0000-0003-4173-9947
Zaheer M ValivullahCenter for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-6843-3465
Vedrana MilicClinic for Neurology and Psychiatry for Children and Youth,Belgrade,Serbia.
Gordana KovacevicMother and Child Health Care Institute,Belgrade,Serbia.ORCID 0000-0002-0755-2153
Ana KosacClinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia.
Cristiane A M MorenoDepartment of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.
Clara Gontijo CameloDepartment of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.
Edmar ZanoteliDepartment of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.
Michael C FaheyDepartment of Paediatrics Monash University, Melbourne, VIC, Australia.
Alan H BeggsDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research,Boston Children's Hospital, Harvard Medical School, Boston MA 02115, USA.ORCID 0000-0001-8818-0568
John VissingCopenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0001-6144-8544
Volker StraubJohn Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
Marco SavareseFolkhälsan Research Center, Helsinki, Finland.ORCID 0000-0002-2591-244X
Giorgio TascaJohn Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.ORCID 0000-0003-0849-9144
Nicol VoermansDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.
Nigel G LaingHarry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
Bjarne UddFolkhälsan Research Center, Helsinki, Finland.
Ichizo NishinoDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.ORCID 0000-0001-9452-112X
Gianina RavenscroftHarry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.ORCID 0000-0003-3634-211X
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MBroad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9MNHGRI NIH HHS R01 HG009141NHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG008900NICHD NIH HHS P50 HD105351
Abstract
Tubulinopathies encompass a wide spectrum of disorders resulting from variants in genes encoding α- and β-tubulins, the key components of microtubules. While previous studies have linked
Indexed as
autophagygenotype-phenotype correlationprotein aggregate myopathytubulintubulinopathy
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What OpenQuestion holds
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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.