Detalhe da pesquisa
1.
Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease.
Mov Disord
; 36(3): 774-779, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33278043
2.
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.
Brain
; 137(Pt 5): 1481-95, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24574503
3.
Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance.
J Cardiovasc Magn Reson
; 16: 99, 2014 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25475749
4.
Novel pathogenic mutations in the glucocerebrosidase locus.
Mol Genet Metab
; 106(4): 495-7, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22658918
5.
Hyposmia and cognitive impairment in Gaucher disease patients and carriers.
Mov Disord
; 27(4): 526-32, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22344629
6.
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study.
Mol Genet Metab Rep
; 31: 100862, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782623
7.
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease.
Orphanet J Rare Dis
; 17(1): 234, 2022 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35717194
8.
Potential biomarkers of osteonecrosis in Gaucher disease.
Blood Cells Mol Dis
; 46(1): 27-33, 2011 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21075651
9.
Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study.
Brain
; 133(10): 2909-19, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20693542
10.
Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.
Orphanet J Rare Dis
; 15(1): 349, 2020 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33334373
11.
Quantitative Myocardial Perfusion in Fabry Disease.
Circ Cardiovasc Imaging
; 12(7): e008872, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31269811