{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T11:02:33Z","timestamp":1788778953863,"version":"build-2803163510"},"reference-count":98,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T00:00:00Z","timestamp":1717718400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"German Society for Muscle Diseases"},{"name":"Cologne Clinician Scientist Program\/Medical Faculty\/University of Cologne and German Research Foundation"},{"name":"European Union Horizon 2020 Programme"},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"publisher","award":["2446"],"award-info":[{"award-number":["2446"]}],"id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministry of Health of the Czech Republic","doi-asserted-by":"publisher","award":["AZV NU20-04-00279"],"award-info":[{"award-number":["AZV NU20-04-00279"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013114","name":"Broad Institute of MIT and Harvard","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013114","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["UM1HG008900"],"award-info":[{"award-number":["UM1HG008900"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Boston Children\u2019s Hospital IDDRC Molecular Genetics Core Facility","award":["P50HD105351"],"award-info":[{"award-number":["P50HD105351"]}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Intracellular trafficking involves an intricate machinery of motor complexes, including the dynein complex, to shuttle cargo for autophagolysosomal degradation. Deficiency in dynein axonemal chains, as well as cytoplasmic light and intermediate chains, have been linked with ciliary dyskinesia and skeletal dysplasia. The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons. Dominant pathogenic variants in DYNC1H1 have been previously implicated in peripheral neuromuscular disorders (NMD) and neurodevelopmental disorders (NDD). As heavy-chain dynein is ubiquitously expressed, the apparent selectivity of heavy chain dyneinopathy for motor neuronal phenotypes remains currently unaccounted for. Here, we aimed to evaluate the full DYNC1H1-related clinical, molecular and imaging spectrum, including multisystem features and novel phenotypes presenting throughout life.<\/jats:p>\n                  <jats:p>We identified 47 cases from 43 families with pathogenic heterozygous variants in DYNC1H1 (aged 0\u201359 years) and collected phenotypic data via a comprehensive standardized survey and clinical follow-up appointments. Most patients presented with divergent and previously unrecognized neurological and multisystem features, leading to significant delays in genetic testing and establishing the correct diagnosis. Neurological phenotypes include novel autonomic features, previously rarely described behavioral disorders, movement disorders and periventricular lesions. Sensory neuropathy was identified in nine patients (median age of onset 10.6 years), of which five were only diagnosed after the second decade of life, and three had a progressive age-dependent sensory neuropathy.<\/jats:p>\n                  <jats:p>Novel multisystem features included primary immunodeficiency, bilateral sensorineural hearing loss, organ anomalies and skeletal manifestations, resembling the phenotypic spectrum of other dyneinopathies. We also identified an age-dependent biphasic disease course with developmental regression in the first decade and, following a period of stability, neurodegenerative progression after the second decade of life. Of note, we observed several cases in whom neurodegeneration appeared to be prompted by intercurrent systemic infections with double-stranded DNA viruses (Herpesviridae) or single-stranded RNA viruses (Ross River fever, SARS-CoV-2). Moreover, the disease course appeared to be exacerbated by viral infections regardless of age and\/or severity of neurodevelopmental disorder manifestations, indicating a role of dynein in anti-viral immunity and neuronal health.<\/jats:p>\n                  <jats:p>In summary, our findings expand the clinical, imaging and molecular spectrum of pathogenic DYNC1H1 variants beyond motor neuropathy disorders and suggest a life-long continuum and age-related progression due to deficient intracellular trafficking. This study will facilitate early diagnosis and improve counselling and health surveillance of affected patients.<\/jats:p>","DOI":"10.1093\/brain\/awae183","type":"journal-article","created":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T18:44:10Z","timestamp":1717699450000},"page":"597-612","source":"Crossref","is-referenced-by-count":25,"title":["The expanding clinical and genetic spectrum of\n                    <i>DYNC1H1<\/i>\n                    -related disorders"],"prefix":"10.1093","volume":"148","author":[{"given":"Birk","family":"M\u00f6ller","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena-Luise","family":"Becker","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin , 13353 Berlin ,","place":["Germany"]},{"name":"Center for Chronically Sick Children , Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, 13353 Berlin ,","place":["Germany"]},{"name":"Institute for Cell Biology and Neurobiology , Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, 13353 Berlin ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afshin","family":"Saffari","sequence":"additional","affiliation":[{"name":"Heidelberg University, Medical Faculty Heidelberg, University Hospital Heidelberg, Center for Pediatrics and Adolescent Medicine, Department of Pediatrics I, Division of Child Neurology and Metabolic Medicine , 69120 Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[{"name":"Reference Center for Malformations and Congenital Diseases of the Cerebellum and Intellectual Disabilities of Rare Causes, Department of Genetics and Medical Embryology, Sorbonne University, Trousseau Hospital Paris , 75012 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele G","family":"Coci","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Otto-von-Guericke-University Magdeburg , 39120 Magdeburg ,","place":["Germany"]},{"name":"Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet , 2100 Copenhagen ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Williamson","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital Genetic Center , Akron, OH 44308 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Ward-Melver","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital Genetic Center , Akron, OH 44308 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Gibaud","sequence":"additional","affiliation":[{"name":"Service de p\u00e9diatrie, CHU de Nantes , 44000 Nantes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Sedl\u00e1\u010dkov\u00e1","sequence":"additional","affiliation":[{"name":"Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE , 150 06 Prague ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"La\u0161\u0161uthov\u00e1","sequence":"additional","affiliation":[{"name":"Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE , 150 06 Prague ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuzana","family":"Lib\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE , 150 06 Prague ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark\u00e9ta","family":"Vl\u010dkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE , 150 06 Prague ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"William","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic , Rochester, MN 55901 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2946-5795","authenticated-orcid":false,"given":"Eric W","family":"Klee","sequence":"additional","affiliation":[{"name":"Departments of Clinical Genomics and Neurology, Mayo Clinic , Rochester, MN 55905 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralitza H","family":"Gavrilova","sequence":"additional","affiliation":[{"name":"Departments of Clinical Genomics and Neurology, Mayo Clinic , Rochester, MN 55905 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"L\u00e9vy","sequence":"additional","affiliation":[{"name":"Genetics Department, AP-HP, Robert-Debr\u00e9 University Hospital , 75019 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yline","family":"Capri","sequence":"additional","affiliation":[{"name":"Genetics Department, AP-HP, Robert-Debr\u00e9 University Hospital , 75019 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mena","family":"Scavina","sequence":"additional","affiliation":[{"name":"Division of Neurology, Nemours Children\u2019s Health, Wilmington, Delaware 19803, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert Walter","family":"K\u00f6rner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaheer","family":"Valivullah","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics, Broad Institute Harvard , Cambridge, MA 02142 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Wei\u00df","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin , 13353 Berlin ,","place":["Germany"]},{"name":"Center for Chronically Sick Children , Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, 13353 Berlin ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greta Marit","family":"M\u00f6ller","sequence":"additional","affiliation":[{"name":"Berlin University of Applied Sciences and Technology , 10587 Berlin ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zo\u00eb","family":"Frazier","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s Hospital , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Roberts","sequence":"additional","affiliation":[{"name":"Center for Cardiovascular Genetics, Boston Children\u2019s Hospital , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanca","family":"Gener","sequence":"additional","affiliation":[{"name":"Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute , Barakaldo 48903 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Scala","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa , 16147 Genoa ,","place":["Italy"]},{"name":"U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini , 16147 Genoa ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa , 16147 Genoa ,","place":["Italy"]},{"name":"Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute , 16147 Genoa ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa , 16147 Genoa ,","place":["Italy"]},{"name":"U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini , 16147 Genoa ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0019-3060","authenticated-orcid":false,"given":"Moritz","family":"Thiel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margje","family":"Sinnema","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Maastricht University Medical Center , 6229 HX Maastricht ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6480-1892","authenticated-orcid":false,"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center , 6525 GA Nijmegen ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronique","family":"Duboc","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Universit\u00e9 C\u00f4te D\u2019Azur, Centre Hospitalier Universitaire Nice , 06000 Nice ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaoula","family":"Zaafrane-Khachnaoui","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Universit\u00e9 C\u00f4te D\u2019Azur, Centre Hospitalier Universitaire Nice , 06000 Nice ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nour","family":"Elkhateeb","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Cambridge University Hospitals NHS Trust , Cambridge CB2 3EH ,","place":["UK"]},{"name":"Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University , 4390330 Cairo ,","place":["Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laila","family":"Selim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University , 4390330 Cairo ,","place":["Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"Margot","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital of Bordeaux , 33076 Bordeaux ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Marin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital of Bordeaux , 33076 Bordeaux ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Beneteau","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University Hospital of Bordeaux , 33076 Bordeaux ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Genetics Department, Nantes University, CHU de Nantes , 44000 Nantes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogne","sequence":"additional","affiliation":[{"name":"Genetics Department, Nantes University, CHU de Nantes , 44000 Nantes ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"Genetic Department, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, AP-HP, Sorbonne University , 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benno","family":"K\u00fcsters","sequence":"additional","affiliation":[{"name":"Department of Pathology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center , 6525 GA Nijmegen ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8818-0568","authenticated-orcid":false,"given":"Alan H","family":"Beggs","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02445 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Sveden","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s Hospital , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Chopra","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children\u2019s Hospital , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casie A","family":"Genetti","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02445 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost","family":"Nicolai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Maastricht University Medical Center , 6229 HX Maastricht ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rg","family":"D\u00f6tsch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]},{"name":"Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7991-4432","authenticated-orcid":false,"given":"Anne","family":"Koy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]},{"name":"Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"von der Hagen","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technische Universit\u00e4t Dresden, 01307 \u00a0 Dresden ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen-Christoph","family":"von Kleist-Retzow","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]},{"name":"Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol C","family":"Voermans","sequence":"additional","affiliation":[{"name":"The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre , 6525 Nijmegen ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology\u2014Neuromuscular Service, Evelina Children\u2019s Hospital, Guy\u2019s & St Thomas\u2019 NHS Foundation Trust , London SE1 7EH ,","place":["UK"]},{"name":"Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King\u2019s College London , London SE1 1YR ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3483-5009","authenticated-orcid":false,"given":"Hormos Salimi","family":"Dafsari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]},{"name":"Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne , 50937 Cologne ,","place":["Germany"]},{"name":"Department of Paediatric Neurology\u2014Neuromuscular Service, Evelina Children\u2019s Hospital, Guy\u2019s & St Thomas\u2019 NHS Foundation Trust , London SE1 7EH ,","place":["UK"]},{"name":"Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King\u2019s College London , London SE1 1YR ,","place":["UK"]},{"name":"Max-Planck-Institute for Biology of Ageing , 50931 Cologne ,","place":["Germany"]},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD) , 50931 Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,6,8]]},"reference":[{"key":"2025020305055805200_awae183-B1","doi-asserted-by":"crossref","first-page":"E1597","DOI":"10.1073\/pnas.1620141114","article-title":"DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes","volume":"114","author":"Hoang","year":"2017","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025020305055805200_awae183-B2","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1038\/s41580-018-0004-3","article-title":"The cytoplasmic dynein transport machinery and its many cargoes","volume":"19","author":"Reck-Peterson","year":"2018","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2025020305055805200_awae183-B3","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1016\/j.neuron.2010.09.039","article-title":"Molecular motors in neurons: Transport mechanisms and roles in brain function, development, and disease","volume":"68","author":"Hirokawa","year":"2010","journal-title":"Neuron"},{"key":"2025020305055805200_awae183-B4","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/j.tins.2013.08.001","article-title":"Cytoplasmic dynein heavy chain: The servant of many masters","volume":"36","author":"Schiavo","year":"2013","journal-title":"Trends Neurosci"},{"key":"2025020305055805200_awae183-B5","doi-asserted-by":"crossref","first-page":"e47246","DOI":"10.7554\/eLife.47246","article-title":"Molecular basis for dyneinopathies reveals insight into dynein regulation and 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