Detalhe da pesquisa
1.
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Ann Neurol
; 87(1): 139-153, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658403
2.
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Mov Disord
; 34(4): 526-535, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788890
3.
Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation.
Stroke
; 49(8): 1977-1980, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986930
4.
Tandem mass spectrometry assay of ß-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Mol Genet Metab
; 123(2): 135-139, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100779
5.
Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.
J Biol Chem
; 290(23): 14361-80, 2015 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25878248
6.
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Brain
; 138(Pt 9): 2648-58, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26117366
7.
Cerebrospinal fluid proteomics implicates the granin family in Parkinson's disease.
Sci Rep
; 10(1): 2479, 2020 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32051502
8.
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.
Ann Clin Transl Neurol
; 7(10): 1816-1830, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888397
9.
SCARB2 variants and glucocerebrosidase activity in Parkinson's disease.
NPJ Parkinsons Dis
; 22016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27110593
10.
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.
Mol Genet Metab Rep
; 3: 55-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26937397
11.
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis.
BMC Neurosci
; 5: 57, 2004 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-15588329