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Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

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Title: Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Authors: Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Brechmann B; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany., Heimer G; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Brösse I; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany., Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., O'Grady L; Department of Pediatrics, Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts, USA., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Srivastava S; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Sweetser DA; Department of Pediatrics, Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts, USA., Dincer Y; Lehrstuhl für Sozialpädiatrie, Department of Pediatrics, Technische Universität München, Germany.; Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Germany., Mall V; Lehrstuhl für Sozialpädiatrie, Department of Pediatrics, Technische Universität München, Germany.; kbo-Kinderzentrum München, Munich, Germany., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology (Synergy), Ludwig-Maximilians-Universität München, Munich, Germany., Behrends C; Munich Cluster for Systems Neurology (Synergy), Ludwig-Maximilians-Universität München, Munich, Germany., Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Graham RJ; Department of Anesthesia, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Jayakar P; Nicklaus Children's Hospital, Miami, Florida, USA., Byrne B; Powell Gene Therapy Center, University of Florida, Gainesville, Florida, USA., Bar-Aluma BE; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Haberman Y; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Szeinberg A; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Aldhalaan HM; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al Tenaiji A; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Ismayl O; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Al Nuaimi AE; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Maher K; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Ibrahim S; Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Khan F; Department of Paediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Ramakumaran VS; Oxford Centre for Genomic Medicine, Oxford, UK., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., ElGhazali G; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA., Muñoz T; Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Repetto GM; Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Seitz A; Department of Diagnostic and Interventional Radiology, Heidelberg University Hospital, Heidelberg, Germany., Krumbiegel M; Institute of Human Genetics, Friedrich-Alexander-Universität (FAU), Erlangen, Germany., Poli MC; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Kini U; Oxford Centre for Genomic Medicine, Oxford, UK., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Meiler J; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, USA.; Institute for Drug Discovery, University of Leipzig Medical Center, Leipzig, Germany., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Ben-Zeev B; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Ebrahimi-Fakhari D; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Source: Human mutation [Hum Mutat] 2021 Jun; Vol. 42 (6), pp. 762-776. Date of Electronic Publication: 2021 May 11.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Systematic Review
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
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Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Heimer+G%22">Heimer G</searchLink>; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Brösse+I%22">Brösse I</searchLink>; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Schubert+S%22">Schubert S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22O'Grady+L%22">O'Grady L</searchLink>; Department of Pediatrics, Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Department of Neurology, The F.M. 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            – D: 01
              M: 06
              Text: 2021 Jun
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1098-1004
          Numbering:
            – Type: volume
              Value: 42
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Human mutation
              Type: main
ResultId 1