Detalhe da pesquisa
1.
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.
Mov Disord
; 38(9): 1742-1750, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37482941
2.
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
Am J Med Genet A
; 188(9): 2590-2598, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35775650
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38233389
5.
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.
J Clin Invest
; 133(10)2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951961
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37398196
7.
AP-4-mediated axonal transport controls endocannabinoid production in neurons.
Nat Commun
; 13(1): 1058, 2022 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35217685
8.
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.
Ann Clin Transl Neurol
; 9(4): 570-576, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35297214
9.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50).
Stem Cell Res
; 53: 102335, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087981
10.
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.
Neurol Genet
; 7(1): e544, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33553621
11.
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.
Neurology
; 97(19): e1942-e1954, 2021 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544818
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34729478