Detalhe da pesquisa
1.
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
Am J Med Genet A
; : e63630, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38647370
2.
Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants.
Am J Med Genet A
; 191(10): 2647-2650, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37449546
3.
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Am J Med Genet A
; 191(7): 1783-1791, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37042183
4.
An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease.
J Genet Couns
; 32(3): 750-757, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617666
5.
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
Mol Genet Metab
; 132(2): 49-58, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483255
6.
Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
Mol Genet Metab
; 134(3): 274-280, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34663554
7.
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.
Mol Genet Metab
; 131(3): 358-363, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33183916
8.
Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism.
Mov Disord
; 35(2): 359-365, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31785030
9.
GBA1-associated parkinsonism: new insights and therapeutic opportunities.
Curr Opin Neurol
; 32(4): 589-596, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31188151
10.
Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.
Mol Genet Metab
; 127(3): 191-199, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256856
11.
Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown.
Mol Genet Metab
; 132(4): 213-214, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33676819
12.
Mutations, modifiers and epigenetics in Gaucher disease: Blurred boundaries between simple and complex disorders.
Mol Genet Metab
; 128(1-2): 10-13, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474515
13.
Facial features of lysosomal storage disorders.
Expert Rev Endocrinol Metab
; 17(6): 467-474, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384353
14.
Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease.
Front Neurol
; 13: 1039214, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36330429
15.
Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.
Expert Opin Pharmacother
; 22(11): 1489-1503, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33711910
16.
Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series.
Mov Disord Clin Pract
; 7(7): 834-837, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043079
17.
The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.
Neurology
; 95(15): e2119-e2130, 2020 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32764102
18.
Variation in cognitive function over time in Gaucher disease type 3.
Neurology
; 93(24): e2272-e2283, 2019 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31719137
19.
Recent advances in the diagnosis and management of Gaucher disease.
Expert Rev Endocrinol Metab
; 13(2): 107-118, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30058864
20.
Gaucher Disease and Heart Failure of Unknown Origin.
Am J Med
; 134(6): 745-748, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33359772