Ver\u00f6ffentlichung auf NCBI anschauen<\/a><\/p>\nZu unserer Exom-Diagnostik<\/a><\/p>\n<\/div>\n
\n- Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany.<\/li>\n
- William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.<\/li>\n
- 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.<\/li>\n
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<\/li>\n
- Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.<\/li>\n
- German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany.<\/li>\n
- Proteome Center T\u00fcbingen, University of T\u00fcbingen, T\u00fcbingen, Germany.<\/li>\n
- Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; St George’s Hospital NHS Trust, London, United Kingdom.<\/li>\n
- CeGaT GmbH, Center for Genomics and Transcriptomics, T\u00fcbingen, Germany.<\/li>\n
- Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany.<\/li>\n
- 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.<\/li>\n
- Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom.<\/li>\n
- 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.<\/li>\n
- Sheffield Institute for Translational Neurosciences (SITraN), The University of Sheffield, Sheffield, United Kingdom; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom.<\/li>\n
- 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.<\/li>\n
- Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.<\/li>\n
- Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<\/li>\n
- Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen, T\u00fcbingen, Germany; German Center for Neurodegenerative Diseases (DZNE), T\u00fcbingen, Germany.<\/li>\n
- Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany; Department of Neurology, Klinikum rechts der Isar, Technical University Munich (TUM), Munich, Germany.<\/li>\n
- Department of Human Genetics, Medical Faculty, Ruhr University Bochum, Bochum, Germany.<\/li>\n
- Department of Neurosurgery, Hannover Medical School, Hannover, Germany.<\/li>\n
- Department of Neurology, Ortenau Klinikum Lahr-Ettenheim, Lahr, Germany; Department of Neurology, Universit\u00e4tsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.<\/li>\n
- Institute of Human Genetics, Technische Universit\u00e4t M\u00fcnchen, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum M\u00fcnchen, Neuherberg, Germany.<\/li>\n
- Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen, T\u00fcbingen, Germany.<\/li>\n
- Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.<\/li>\n
- Department of Neurology, Universit\u00e4tsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Neurology, Klinikum Stuttgart, Stuttgart, Germany.<\/li>\n
- Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany; Center for Rare Diseases, University of T\u00fcbingen, T\u00fcbingen, Germany.<\/li>\n
- Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen, T\u00fcbingen, Germany; German Center for Neurodegenerative Diseases (DZNE), T\u00fcbingen, Germany; Center for Rare Diseases, University of T\u00fcbingen, T\u00fcbingen, Germany. Electronic address: ludger.schoels@uni-tuebingen.de.<\/li>\n
- William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom. Electronic address: h.houlden@ucl.ac.uk.<\/li>\n
- Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen, T\u00fcbingen, Germany; German Center for Neurodegenerative Diseases (DZNE), T\u00fcbingen, Germany.<\/li>\n<\/ol>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":18,"featured_media":54928,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[53],"tags":[240],"class_list":["post-55388","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-veroeffentlichungen","tag-exom-diagnostik"],"yoast_head":"\nHeterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy<\/title>\n<meta name=\"description\" content=\"Diese sowie noch weitere Exom-Publikationen, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/cegat.com\/de\/heterozygous-uchl1-loss-of-function-variants-cause-a-neurodegenerative-disorder-with-spasticity-ataxia-neuropathy-and-optic-atrophy\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy\" \/>\n<meta property=\"og:description\" content=\"Diese sowie noch weitere Exom-Publikationen, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.\" \/>\n<meta property=\"og:url\" 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