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1.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet
; 29(2): 320-334, 2020 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31915823
2.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33847017
3.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32979048
4.
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.
Nat Commun
; 15(1): 584, 2024 Jan 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38233389
5.
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia.
Res Sq
; 2023 Jun 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37398196
6.
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain Commun
; 3(4): fcab221, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34729478
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