Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915823
2.
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
3.
Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.
J Inherit Metab Dis
; 43(1): 51-62, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30854657
4.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Ann Clin Transl Neurol
; 11(4): 883-898, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263760
5.
Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.
Cell Rep
; 31(12): 107780, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579942
6.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).
Stem Cell Res
; 40: 101575, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31525725