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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

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Title: Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Authors: Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Tucci A; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Cipriani V; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Genetics Institute, University College London, London, United Kingdom., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Senderek J; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany., Butryn M; German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany., Velic A; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Lam T; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; St George's Hospital NHS Trust, London, United Kingdom., Galanaki E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Cali E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Vestito L; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Deininger N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rautenberg M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hahn GA; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany., Bartels C; Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany., van Os NJH; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, the Netherlands., Horvath R; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom., Chinnery PF; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom; MRC Mitochondrial Biology Unit & Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Tiet MY; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom., Hewamadduma C; Sheffield Institute for Translational Neurosciences (SITraN), The University of Sheffield, Sheffield, United Kingdom; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom., Hadjivassiliou M; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and The University of Sheffield, Sheffield, United Kingdom., Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Wood NW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Hayer SN; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Bender F; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Cordts I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurology, Klinikum rechts der Isar, Technical University Munich (TUM), Munich, Germany., Klein K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Nguyen HP; Department of Human Genetics, Medical Faculty, Ruhr University Bochum, Bochum, Germany., Krauss JK; Department of Neurosurgery, Hannover Medical School, Hannover, Germany., Blahak C; Department of Neurology, Ortenau Klinikum Lahr-Ettenheim, Lahr, Germany; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany., Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, the Netherlands., Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Maček B; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Synofzik M; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Wolf ME; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Neurology, Klinikum Stuttgart, Stuttgart, Germany., Smedley D; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Schöls L; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany. Electronic address: ludger.schoels@uni-tuebingen.de., Houlden H; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom. Electronic address: h.houlden@ucl.ac.uk., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Hengel H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Corporate Authors: Genomics England Research Consortium
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2079-2090. Date of Electronic Publication: 2022 Aug 20.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
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  Data: <searchLink fieldCode="AU" term="%22Park+J%22">Park J</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Tucci+A%22">Tucci A</searchLink>; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cipriani+V%22">Cipriani V</searchLink>; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Genetics Institute, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Demidov+G%22">Demidov G</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Rocca+C%22">Rocca C</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Senderek+J%22">Senderek J</searchLink>; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Butryn+M%22">Butryn M</searchLink>; German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Velic+A%22">Velic A</searchLink>; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Lam+T%22">Lam T</searchLink>; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; St George's Hospital NHS Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Galanaki+E%22">Galanaki E</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cali+E%22">Cali E</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Vestito+L%22">Vestito L</searchLink>; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Deininger+N%22">Deininger N</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Rautenberg+M%22">Rautenberg M</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Admard+J%22">Admard J</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hahn+GA%22">Hahn GA</searchLink>; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bartels+C%22">Bartels C</searchLink>; Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22van+Os+NJH%22">van Os NJH</searchLink>; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chinnery+PF%22">Chinnery PF</searchLink>; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom; MRC Mitochondrial Biology Unit & Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Tiet+MY%22">Tiet MY</searchLink>; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hewamadduma+C%22">Hewamadduma C</searchLink>; Sheffield Institute for Translational Neurosciences (SITraN), The University of Sheffield, Sheffield, United Kingdom; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hadjivassiliou+M%22">Hadjivassiliou M</searchLink>; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and The University of Sheffield, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Tofaris+GK%22">Tofaris GK</searchLink>; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wood+NW%22">Wood NW</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hayer+SN%22">Hayer SN</searchLink>; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bender+F%22">Bender F</searchLink>; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Menden+B%22">Menden B</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Cordts+I%22">Cordts I</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurology, Klinikum rechts der Isar, Technical University Munich (TUM), Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Klein+K%22">Klein K</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Nguyen+HP%22">Nguyen HP</searchLink>; Department of Human Genetics, Medical Faculty, Ruhr University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Krauss+JK%22">Krauss JK</searchLink>; Department of Neurosurgery, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Blahak+C%22">Blahak C</searchLink>; Department of Neurology, Ortenau Klinikum Lahr-Ettenheim, Lahr, Germany; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.<br /><searchLink fieldCode="AU" term="%22Strom+TM%22">Strom TM</searchLink>; 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Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Ossowski+S%22">Ossowski S</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Timmann+D%22">Timmann D</searchLink>; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Wolf+ME%22">Wolf ME</searchLink>; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Neurology, Klinikum Stuttgart, Stuttgart, Germany.<br /><searchLink fieldCode="AU" term="%22Smedley+D%22">Smedley D</searchLink>; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Riess+O%22">Riess O</searchLink>; 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      – TitleFull: Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
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          Name:
            NameFull: Smedley D
      – PersonEntity:
          Name:
            NameFull: Riess O
      – PersonEntity:
          Name:
            NameFull: Schöls L
      – PersonEntity:
          Name:
            NameFull: Houlden H
      – PersonEntity:
          Name:
            NameFull: Haack TB
      – PersonEntity:
          Name:
            NameFull: Hengel H
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: 2022 Oct
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 24
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
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