Detalhe da pesquisa
1.
Reversibility of neuropathology in Tay-Sachs-related diseases.
Hum Mol Genet
; 23(3): 730-48, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24057669
2.
Adeno-associated virus-mediated expression of ß-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain.
Hum Mol Genet
; 20(22): 4371-80, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21852247
3.
A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe disease.
Biomed Pharmacother
; 149: 112808, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35290889
4.
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
Cells
; 10(11)2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34831346
5.
Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by Metabolomics.
Metabolites
; 11(1)2020 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33396723
6.
Genetics and Therapies for GM2 Gangliosidosis.
Curr Gene Ther
; 18(2): 68-89, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618308