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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

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Title: EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Authors: Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Neuropediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, 72016 Tübingen, Germany. Electronic address: lucia.laugwitz@med.uni-tuebingen.de., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Olguín P; Department of Neuroscience, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile; Program of Human Genetics, Biomedical Sciences Institute, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile., Estiar MA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Human Genetics, McGill University, Montreal, QC, Canada., Atanasova M; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Jr WM; Neuroscience and Behavioral Sciences Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14048-900, Brazil., Enssle J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Marsden B; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Avilés J; Department of Neuroscience, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile; Program of Human Genetics, Biomedical Sciences Institute, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile., González-Gutiérrez A; Department of Neuroscience, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile; Program of Human Genetics, Biomedical Sciences Institute, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile., Candia N; Department of Neuroscience, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile; Program of Human Genetics, Biomedical Sciences Institute, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile., Fabiano M; Institut für Biochemie und Molekularbiologie, Uniklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53115 Bonn, Germany., Morlot S; Department of Human Genetics, Hannover Medical School, Hanover, Germany., Peralta S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Groh A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Schillinger C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Kuehn C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Sofan L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Bender B; Diagnostic and Interventional Neuroradiology, Radiologic Clinics, University of Tübingen, 72076 Tübingen, Germany., Tomaselli PJ; Neuroscience and Behavioral Sciences Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14048-900, Brazil., Diebold U; Social Pediatric Center, Auf der Bult, Hannover, Germany., Mueller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Spranger S; MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany., Fuchs M; Sozialpädiatrisches Zentrum (SPZ), Allgemeines Krankenhaus Celle, 29221 Celle, Germany., Freua F; Division of Clinical Neurology, Hospital das Clinicas da Universidade de São Paulo, São Paulo, Brazil., Melo US; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany., Mattas L; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA., Ashtiani S; Alberta Children's Hospital, Medical Genetics, Calgary, AB, Canada., Suchowersky O; Departments of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, AB, Canada., Groeschel S; Neuropediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, 72016 Tübingen, Germany., Rouleau GA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada; Department of Human Genetics, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Yosovich K; Molecular Genetic Lab, Wolfson Medical Center, Holon 58100, Israel., Michelson M; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel., Leibovitz Z; Obstetrics & Gynecology Ultrasound Unit, Bnai Zion Medical Center, Rappaport Faculty of Medicine, Technion-Israel Institute, Haifa, Israel., Bilal M; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi 74800, Pakistan., Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey; Acibadem Maslak Hospital, Istanbul, Turkey., Ozdogan O; Departman of Pediatric Neurology, Adana City Training and Research Hospital, Adana, Turkey., Celik T; Departman of Pediatric Neurology, Adana City Training and Research Hospital, Adana, Turkey., Krägeloh-Mann I; Neuropediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, 72016 Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE)., Rosewich H; Neuropediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, 72016 Tübingen, Germany; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia (KSA); Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan., Lev D; Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Schweizer U; Institut für Biochemie und Molekularbiologie, Uniklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53115 Bonn, Germany., Lynch DS; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; NIHR University College London Hospitals Biomedical Research Centre, London, UK., Gan-Or Z; Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Source: American journal of human genetics [Am J Hum Genet] 2025 Jan 02; Vol. 112 (1), pp. 168-180.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 39753114
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PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
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Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Spranger+S%22">Spranger S</searchLink>; MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Fuchs+M%22">Fuchs M</searchLink>; Sozialpädiatrisches Zentrum (SPZ), Allgemeines Krankenhaus Celle, 29221 Celle, Germany.<br /><searchLink fieldCode="AU" term="%22Freua+F%22">Freua F</searchLink>; Division of Clinical Neurology, Hospital das Clinicas da Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Melo+US%22">Melo US</searchLink>; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Mattas+L%22">Mattas L</searchLink>; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ashtiani+S%22">Ashtiani S</searchLink>; 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Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia (KSA); Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Lev+D%22">Lev D</searchLink>; Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; Dr. John T. 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            NameFull: Krägeloh-Mann I
      – PersonEntity:
          Name:
            NameFull: Riess O
      – PersonEntity:
          Name:
            NameFull: Rosewich H
      – PersonEntity:
          Name:
            NameFull: Umair M
      – PersonEntity:
          Name:
            NameFull: Lev D
      – PersonEntity:
          Name:
            NameFull: Zuchner S
      – PersonEntity:
          Name:
            NameFull: Schweizer U
      – PersonEntity:
          Name:
            NameFull: Lynch DS
      – PersonEntity:
          Name:
            NameFull: Gan-Or Z
      – PersonEntity:
          Name:
            NameFull: Haack TB
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 02
              M: 01
              Text: 2025 Jan 02
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 112
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1