Paola A Torres
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Explore the profile of Paola A Torres including associated specialties, affiliations and a list of published articles.
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6
Citations
121
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Recent Articles
1.
Jian J, Zhao S, Tian Q, Liu H, Zhao Y, Chen W, et al.
EBioMedicine
. 2016 Aug;
11:127-137.
PMID: 27515686
Background: Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1 gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study identified the progranulin (PGRN)...
2.
Ortega R, Torres P, Swan M, Nichols W, Boschung S, Raymond D, et al.
J Clin Neurosci
. 2016 Feb;
28:185-6.
PMID: 26857292
Mutations in the glucocerebrosidase (GBA1) gene, the most common genetic contributor to Parkinson's disease (PD), are associated with an increased risk of PD in heterozygous and homozygous carriers. While glucocerebrosidase...
3.
Clark L, Chan R, Cheng R, Liu X, Park N, Parmalee N, et al.
PLoS One
. 2015 May;
10(5):e0125204.
PMID: 25933391
Objective: Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis. Methods: We performed...
4.
Muthupalani S, Torres P, Wang B, Zeng B, Eaton S, Erdelyi I, et al.
Mol Genet Metab
. 2014 Mar;
111(4):513-21.
PMID: 24581871
G(M1)-gangliosidosis is a rare progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of lysosomal β-galactosidase. We have identified seven American black bears (Ursus americanus) found in the Northeast...
5.
Pierson T, Torres P, Zeng B, Glanzman A, Adams D, Finkel R, et al.
Mol Genet Metab
. 2012 Nov;
108(1):65-9.
PMID: 23158871
A 12 year-old female presented with a seven-year history of progressive muscle weakness, atrophy, tremor and fasciculations. Cognition was normal. Rectal biopsy revealed intracellular storage material and biochemical testing indicated...
6.
Torres P, Zeng B, Porter B, Alroy J, Horak F, Horak J, et al.
Mol Genet Metab
. 2010 Sep;
101(4):357-63.
PMID: 20817517
Autopsy studies of four Jacob sheep dying within their first 6-8 months of a progressive neurodegenerative disorder suggested the presence of a neuronal storage disease. Lysosomal enzyme studies of brain...