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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

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作者单位: Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. [1] Department of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany. [2] Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany. [3] Molecular Medicine, IRCCS Fondazione Stella Maris, 56018 Pisa, Italy. [4] Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. [5] Department of Proteomics and Signal Transduction, Max Planck Institute of Biochemistry, 82152 Martinsried, Germany. [6] Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield S10 2HQ, UK. [7] Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. [8] Institute of Human Genetics, Friedrich-Alexander Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. [9] Division of Pediatric Neurology, Department of Pediatrics, Weill Cornell Medicine, New York City, NY 10021, USA. [10] Scientific Institute, IRCCS E. Medea, Unità Operativa Conegliano, 31015 Treviso, Italy. [11] Department of Pediatric Neurology, Centro Hospitalar de Lisboa Central, 1169-050 Lisbon, Portugal. [12] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. [13] Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1E 6BT, UK. [14] Pediatric Neurology, CHU Montpellier, 34295 Montpellier, France. [15] Division of Sleep Medicine, Harvard Medical School, Boston, MA 02115, USA. [16]
DOI 10.1093/hmg/ddz310
PMID 31915823
发布时间 2024-03-29
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