High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.

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Title: High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Authors: Ebrahimi-Fakhari D; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Alecu JE; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Brechmann B; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Ziegler M; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Ruprecht-Karls University Heidelberg, Medical School, 69120 Heidelberg, Germany., Eberhardt K; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Jumo H; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., D'Amore A; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Habibzadeh P; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, 71347 Shiraz, Iran., Faghihi MA; Department of Psychiatry and Behavioral Sciences, University of Miami, Miami, FL 33136, USA., De Bleecker JL; Department of Neurology, Ghent University Hospital, 9000 Ghent, Belgium., Vuillaumier-Barrot S; Department of Biochemistry, AP-HP, Bichat Hospital, 75018 Paris, France., Auvin S; Pediatric Neurology Department, AP-HP, Robert Debré Hospital, 75019 Paris, France., Santorelli FM; Department of Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Yang E; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Barrett L; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Davies AK; Department of Proteomics and Signal Transduction, Max Planck Institute of Biochemistry, 82152 Martinsried, Germany., Saffari A; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Hirst J; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK., Sahin M; Department of Neurology, The F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.
Source: Brain communications [Brain Commun] 2021 Sep 25; Vol. 3 (4), pp. fcab221. Date of Electronic Publication: 2021 Sep 25 (Print Publication: 2021).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2632-1297
DOI:10.1093/braincomms/fcab221