Grisel Lopez
Overview
Explore the profile of Grisel Lopez including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
53
Citations
2532
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Ryan E, Nishimura S, Lopez G, Tayebi N, Sidransky E
Am J Med Genet A
. 2024 Apr;
194(9):e63630.
PMID: 38647370
Gaucher disease (GD) is an autosomal recessively inherited lysosomal storage disorder caused by biallelic pathological variants in the GBA1 gene. Patients present along a broad clinical spectrum, and phenotypes are...
2.
Hertz E, Perez G, Hao Y, Rytel K, Ma C, Kirby M, et al.
bioRxiv
. 2024 Mar;
PMID: 38529501
Inducible pluripotent stem cells (iPSCs) derived from patient samples have significantly enhanced our ability to model neurological diseases. Comparative studies of dopaminergic (DA) neurons differentiated from iPSCs derived from siblings...
3.
Bravo Thompson H, Campos Herrera F, Macias Ibiricu D, Rodriguez Barrios S, Vazquez Acevedo D, Candanedo Gonzalez C, et al.
Cureus
. 2024 Feb;
16(1):e52385.
PMID: 38361669
Introduction: Venous access for hemodialysis (HD) makes patients more susceptible to transient bacteremia, predisposing them to the development of infective endocarditis (IE). Among the risk factors observed in this population...
4.
Goldstein D, Holmes C, Sullivan P, Lopez G, Gelsomino J, Moore S, et al.
J Clin Invest
. 2023 Oct;
134(1).
PMID: 37883190
Background: In Lewy body diseases (LBDs) Parkinson disease (PD), and dementia with Lewy bodies (DLB), by the time parkinsonism or cognitive dysfunction manifests clinically, substantial neurodegeneration has already occurred. Biomarkers...
5.
Ryan E, Tayebi N, DSouza A, Lopez G, Lichtenberg J, Sidransky E
Am J Med Genet A
. 2023 Jul;
191(10):2647-2650.
PMID: 37449546
Our ability to identify different variants in GBA1, the gene mutated in the lysosomal storage disorder Gaucher disease (GD), has greatly improved. We describe a multigenerational family with type 1...
6.
Hertz E, Lopez G, Lichtenberg J, Haubenberger D, Tayebi N, Hallett M, et al.
J Mov Disord
. 2023 Jun;
16(3):321-324.
PMID: 37309111
Biallelic mutations in GBA1 cause the lysosomal storage disorder Gaucher disease, and carriers of GBA1 variants have an increased risk of Parkinson's disease (PD). It is still unknown whether GBA1...
7.
Gleason A, DSouza A, Ryan E, Grochowsky A, Carter C, Goker-Alpan O, et al.
Am J Med Genet A
. 2023 Apr;
191(7):1783-1791.
PMID: 37042183
Gaucher disease (GD) is an autosomal recessive disorder resulting from glucocerebrosidase deficiency due to pathologic variants in GBA1. While clinically heterogeneous, GD encompasses three types, non-neuronopathic (GD1), acute neuronopathic (GD2),...
8.
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease
Blauwendraat C, Tayebi N, Woo E, Lopez G, Fierro L, Toffoli M, et al.
Mov Disord
. 2023 Mar;
38(5):899-903.
PMID: 36869417
Background: Biallelic pathogenic variants in GBA1 are the cause of Gaucher disease (GD) type 1 (GD1), a lysosomal storage disorder resulting from deficient glucocerebrosidase. Heterozygous GBA1 variants are also a...
9.
Daykin E, Poffenberger C, Do J, Ryan E, Tayebi N, Sidransky E, et al.
J Genet Couns
. 2023 Jan;
32(3):750-757.
PMID: 36617666
Genomic testing increasingly challenges health care providers and patients to understand, share, and use information. The provision of polygenic risks is anticipated to complicate comprehension, communication, and risk perception further....
10.
Ghatti S, Yoon E, Lopez G, Ehrlich D, Horovitz S
J Neurol
. 2022 May;
269(10):5347-5355.
PMID: 35604467
Introduction: Several genetic variants are associated with an increased risk for developing Parkinson's Disease (PD) and limited genotype/phenotype correlation. Specifically, mutations in GBA1, the gene coding for the lysosomal enzyme...