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Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

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Title: Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.
Authors: Ramos LLP; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Parmar JM; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia., Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; United for Metabolic Diseases (UMD), Amsterdam, The Netherlands., Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia., Lazar T; VIB-VUB Center for Structural Biology, VIB, Brussels, Belgium.; Structural Biology Brussels (SBB), Department of Bioengineering, Vrije Universiteit Brussel (VUB), Brussels, Belgium., Mateiu L; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Vucic S; Brain and Nerve Research Center, Concord Clinical School, University of Sydney, Sydney, New South Wales, Australia.; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia., Kumar KR; Neurology Department and Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney Local Health District and NSW Health Pathology, Sydney, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, St. Vincent's Healthcare Clinical Campus, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia., Yeow D; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia.; Neurology Department and Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney Local Health District and NSW Health Pathology, Sydney, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia., Rudaks LI; Neurology Department and Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney Local Health District and NSW Health Pathology, Sydney, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.; Clinical Genetics Unit, Royal North Shore Hospital, Sydney, New South Wales, Australia., de Boer L; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., de Vreugd A; United for Metabolic Diseases (UMD), Amsterdam, The Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Cairns A; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia., Iyengar K; Department of Anatomical Pathology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Kok F; Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.; Mendelics Genomic Analysis, Sao Paulo, Brazil., Figueiredo FB; Mendelics Genomic Analysis, Sao Paulo, Brazil., de Siqueira Carvalho AA; Neuromuscular Reference Center, Citadella Hospital, University of Liege, Liege, Belgium.; Neuromuscular Disease Centre, Department of Neurosciences, University Center ABC, Santo André, Brazil., Mageste Barbosa LS; Neuromuscular Disease Centre, Department of Neurology, University Hospital of the Federal University of Minas Gerais, Belo Horizonte, Brazil., Arantes RR; Medical Genetics Service, University Hospital of the Federal University of Minas Gerais, Belo Horizonte, Brazil., Rehbein T; Department of Neurology, University of Rochester, Rochester, NY., Bontrager JE; Department of Neurology, University of Rochester, Rochester, NY., Wood EP; Department of Neurology, University of Rochester, Rochester, NY., Sowden JE; Department of Neurology, University of Rochester, Rochester, NY., Monahan G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia., Kumaheri M; Genomics Pillar, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; St. Vincent Clinical School, University of New South Wales, Sydney, New South Wales, Australia., Cuijt I; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia., Perez-Siles G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia., McNamara E; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia., van Beek R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Meijers CB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Tournev I; Department of Neurology, Clinic of Nervous Diseases, UMBAL Aleksandrovska, Medical University-Sofia, Sofia, Bulgaria.; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL., Wodak SJ; VIB-VUB Center for Structural Biology, VIB, Brussels, Belgium., van Karnebeek CDM; United for Metabolic Diseases (UMD), Amsterdam, The Netherlands.; Department of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Center, Amsterdam, The Netherlands., Laing N; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia., Semcesen LN; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia., Stroud DA; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY., Guergueltcheva V; Clinic of Neurology, University Hospital Sofiamed, Sofia, Bulgaria.; Department of Neurology, Sofia University 'St. Kliment Ohridski', Sofia, Bulgaria., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, New South Wales, Australia., Oud MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; United for Metabolic Diseases (UMD), Amsterdam, The Netherlands., Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia., Candayan A; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Jordanova A; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.; Research Institute of Innovative Medical Science, Sofia, Bulgaria.
Source: Annals of neurology [Ann Neurol] 2026 Jun 08. Date of Electronic Publication: 2026 Jun 08.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
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  Data: Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.
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  Data: <searchLink fieldCode="AU" term="%22Ramos+LLP%22">Ramos LLP</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Parmar+JM%22">Parmar JM</searchLink>; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Wijngaard+R%22">Wijngaard R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; United for Metabolic Diseases (UMD), Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Grosz+BR%22">Grosz BR</searchLink>; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.; 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Neurology Department and Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney Local Health District and NSW Health Pathology, Sydney, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.; Clinical Genetics Unit, Royal North Shore Hospital, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22de+Boer+L%22">de Boer L</searchLink>; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vreugd+A%22">de Vreugd A</searchLink>; United for Metabolic Diseases (UMD), Amsterdam, The Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Koolen+DA%22">Koolen DA</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gardeitchik+T%22">Gardeitchik T</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Cairns+A%22">Cairns A</searchLink>; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Iyengar+K%22">Iyengar K</searchLink>; Department of Anatomical Pathology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.; Mendelics Genomic Analysis, Sao Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Figueiredo+FB%22">Figueiredo FB</searchLink>; Mendelics Genomic Analysis, Sao Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Siqueira+Carvalho+AA%22">de Siqueira Carvalho AA</searchLink>; Neuromuscular Reference Center, Citadella Hospital, University of Liege, Liege, Belgium.; Neuromuscular Disease Centre, Department of Neurosciences, University Center ABC, Santo André, Brazil.<br /><searchLink fieldCode="AU" term="%22Mageste+Barbosa+LS%22">Mageste Barbosa LS</searchLink>; Neuromuscular Disease Centre, Department of Neurology, University Hospital of the Federal University of Minas Gerais, Belo Horizonte, Brazil.<br /><searchLink fieldCode="AU" term="%22Arantes+RR%22">Arantes RR</searchLink>; Medical Genetics Service, University Hospital of the Federal University of Minas Gerais, Belo Horizonte, Brazil.<br /><searchLink fieldCode="AU" term="%22Rehbein+T%22">Rehbein T</searchLink>; Department of Neurology, University of Rochester, Rochester, NY.<br /><searchLink fieldCode="AU" term="%22Bontrager+JE%22">Bontrager JE</searchLink>; 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Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Meijers+CB%22">Meijers CB</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tournev+I%22">Tournev I</searchLink>; Department of Neurology, Clinic of Nervous Diseases, UMBAL Aleksandrovska, Medical University-Sofia, Sofia, Bulgaria.; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; Dr. John T. 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            NameFull: Semcesen LN
      – PersonEntity:
          Name:
            NameFull: Stroud DA
      – PersonEntity:
          Name:
            NameFull: Herrmann DN
      – PersonEntity:
          Name:
            NameFull: Guergueltcheva V
      – PersonEntity:
          Name:
            NameFull: Kennerson ML
      – PersonEntity:
          Name:
            NameFull: Oud MM
      – PersonEntity:
          Name:
            NameFull: Ravenscroft G
      – PersonEntity:
          Name:
            NameFull: Candayan A
      – PersonEntity:
          Name:
            NameFull: Jordanova A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 08
              M: 06
              Text: 2026 Jun 08
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1531-8249
          Titles:
            – TitleFull: Annals of neurology
              Type: main
ResultId 1