Search Results - "Torres, Paola A"

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease by Clark, Lorraine N, Chan, Robin, Cheng, Rong, Liu, Xinmin, Park, Naeun, Parmalee, Nancy, Kisselev, Sergey, Cortes, Etty, Torres, Paola A, Pastores, Gregory M, Vonsattel, Jean P, Alcalay, Roy, Marder, Karen, Honig, Lawrence L, Fahn, Stanley, Mayeux, Richard, Shelanski, Michael, Di Paolo, Gilbert, Lee, Joseph H

“…Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute…”
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Association Between Progranulin and Gaucher Disease by Jian, Jinlong, Zhao, Shuai, Tian, Qing-Yun, Liu, Helen, Zhao, Yunpeng, Chen, Wen-Chi, Grunig, Gabriele, Torres, Paola A., Wang, Betty C., Zeng, Bai, Pastores, Gregory, Tang, Wei, Sun, Ying, Grabowski, Gregory A., Kong, Max Xiangtian, Wang, Guilin, Chen, Ying, Liang, Fengxia, Overkleeft, Herman S., Saunders-Pullman, Rachel, Chan, Gerald L., Liu, Chuan-ju

“…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…”
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Association between time of residence and self-perception of distress, interpersonal relationships, and social role in Venezuelan immigrants in Lima, Peru 2018-19: mixed-methods study by Delgado-Cáceres, Frank Milton, Silva-Parra, Kevin Angel, Torres-Slimming, Paola A

“…Immigrants arriving in a new country face changes that affect their social, employment, and migratory status. We carried out a mixed-methods study in the…”
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Diarrheal disease and associations with water access and sanitation in Indigenous Shawi children along the Armanayacu River basin in Peru by Torres-Slimming, Paola A, Carcamo, Cesar P, Wright, Carlee J, Lancha, Guillermo, Zavaleta-Cortijo, Carol, King, Nia, d, James D, Garcia, Patricia J, Harper, Sherilee L

“…Introduction: Diarrheal disease, particularly in children under 5 years old, remains a global health challenge due to its high prevalence and chronic health…”
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GM1-gangliosidosis in American black bears: Clinical, pathological, biochemical and molecular genetic characterization by Muthupalani, Sureshkumar, Torres, Paola A., Wang, Betty C., Zeng, Bai Jin, Eaton, Samuel, Erdelyi, Ildiko, Ducore, Rebecca, Maganti, Rajanikarath, Keating, John, Perry, Bain J., Tseng, Florina S., Waliszewski, Nicole, Pokras, Mark, Causey, Robert, Seger, Rita, March, Philip, Tidwell, Amy, Pfannl, Rolf, Seyfried, Thomas, Kolodny, Edwin H., Alroy, Joseph

“…GM1-gangliosidosis is a rare progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of lysosomal β-galactosidase. We have…”
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Rapid SARS-CoV-2 Antigen Detection Self-Tests to Increase COVID-19 Case Detection in Peru: Qualitative Study by Torres-Slimming, Paola A, Carcamo, Cesar, Martínez-Pérez, Guillermo Z, Mallma, Patricia, Pflucker, Cristina, Shilton, Sonjelle

“…The COVID-19 pandemic heavily impacted many low- and middle-income countries (LMICs), such as Peru, overwhelming their health systems. Rapid antigen detection…”
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Type 2 diabetes mellitus and anxiety symptoms: a cross-sectional study in Peru by Arteaga-Zarate, Guadalupe, Demarini-Olivares, Gina, Torres-Slimming, Paola A, Bernabe-Ortiz, Antonio

“…Information about the effect of type 2 diabetes mellitus (T2DM) awareness in the prevalence of anxiety disorders is scarce. Moreover, reports from…”
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Structural determinants of indigenous health: A photovoice study in the Peruvian Amazon by Slimming, Paola A. Torres, Orellana, E. Roberto, Maynas, Jeiser Suarez

“…Indigenous populations in the Americas carry a disproportionate burden of disease. Common to populations affected by health inequities is the exposure to…”
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Tay-Sachs disease in Jacob sheep by Torres, Paola A., Zeng, Bai Jin, Porter, Brian F., Alroy, Joseph, Horak, Fred, Horak, Joan, Kolodny, Edwin H.

“…Autopsy studies of four Jacob sheep dying within their first 6–8 months of a progressive neurodegenerative disorder suggested the presence of a neuronal…”
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Glucocerebrosidase enzyme activity in GBA mutation Parkinson’s disease by Ortega, Roberto A, Torres, Paola A, Swan, Matthew, Nichols, William, Boschung, Sarah, Raymond, Deborah, Barrett, Matthew J, Johannes, Brooke A, Severt, Lawrence, Shanker, Vicki, Hunt, Ann L, Bressman, Susan, Pastores, Gregory M, Saunders-Pullman, Rachel

“…Highlights • Glucocerebrosidase mutations are associated with increased Parkinson disease risk. • GBA enzyme activity in PD patients with and without GBA…”
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Use of PCR to improve diagnostic yield in an outbreak of cyclosporiasis in Lima, Peru by Mundaca, Carmen C., Torres-Slimming, Paola A., Araujo-Castillo, Roger V., Morán, Manuel, Bacon, David J., Ortega, Ynes, Gilman, Robert H., Blazes, David L.

“…Protozoal diseases are increasingly recognized as the cause of diarrhoeal outbreaks in both developed and developing countries. Cyclospora cayetanensis has…”
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Achieving the Sustainable Development Goals: A Mixed Methods Study of Health-Related Water, Sanitation, and Hygiene (WASH) for Indigenous Shawi in the Peruvian Amazon by Torres-Slimming, Paola A, Wright, Carlee, Carcamo, Cesar P, Garcia, Patricia J, Research Team, Ihacc, Harper, Sherilee L

“…Sustainable Development Goal 6 (SDG-6) addresses poor water quality, inadequate sanitation, and improper hygiene, all of which negatively impact health and…”
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Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase by Pierson, Tyler Mark, Torres, Paola A., Zeng, Bei-Jin, Glanzman, Allan M., Adams, David, Finkel, Richard S., Mahuran, Don J., Pastores, Gregory M., Tennekoon, Gihan I., Kolodny, Edwin H.

“…A 12year-old female presented with a seven-year history of progressive muscle weakness, atrophy, tremor and fasciculations. Cognition was normal. Rectal biopsy…”
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Type 2 diabetes mellitus and anxiety symptoms: a cross-sectional study in Peru by Arteaga-Zarate, Guadalupe, Demarini-Olivares, Gina, Torres-Slimming, Paola A., Bernabe-Ortiz, Antonio

“…Background: Information about the effect of type 2 diabetes mellitus (T2DM) awareness in the prevalence of anxiety disorders is scarce. Moreover, reports from…”
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Transformative learning for a sustainable and healthy future through ecosystem approaches to health: insights from 15 years of co-designed ecohealth teaching and learning experiences by Webb, Jena, Raez-Villanueva, Sergio, Carrière, Paul D, Beauchamp, Audrey-Anne, Bell, Isaac, Day, Angela, Elton, Sarah, Feagan, Mathieu, Giacinti, Jolene, Kabemba Lukusa, Jean Paul, Kingsbury, Celia, Torres-Slimming, Paola A, Bunch, Martin, Clow, Katie, Gislason, Maya K, Parkes, Margot W, Jane Parmley, E, Poland, Blake, Vaillancourt, Cathy

“…This paper presents insights from the work of the Canadian Community of Practice in Ecosystem Approaches to Health (CoPEH-Canada) and 15 years (2008–2022) of…”
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Outbreak of cyclosporiasis at a naval base in Lima, Peru by Torres-Slimming, Paola A, Mundaca, Carmen C, Moran, Manuel, Quispe, Jose, Colina, Olga, Bacon, David J, Lescano, Andres G, Gilman, Robert H, Blazes, David L

“…Cyclospora cayetanensis is emerging as an important cause of food-borne diarrheal outbreaks, especially in developed regions like the United States and Europe…”
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Glucocerebrosidase Enzyme Activity in GBA Mutation Parkinson Disease by Ortega, Roberto A., Torres, Paola A., Swan, Matthew, Nichols, William, Boschung, Sarah, Raymond, Deborah, Barrett, Matthew J., Johannes, Brooke A., Severt, Lawrence, Shanker, Vicki, Hunt, Ann L., Bressman, Susan, Pastores, Gregory M., Saunders-Pullman, Rachel

“…Mutations in the glucocerebrosidase ( GBA1 ) gene, the most common genetic contributor to Parkinson’s disease (PD), are associated with an increased risk of PD…”
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G sub(M1)-gangliosidosis in American black bears: Clinical, pathological, biochemical and molecular genetic characterization by Muthupalani, Sureshkumar, Torres, Paola A, Wang, Betty C, Zeng, Bai Jin, Eaton, Samuel, Erdelyi, Ildiko, Ducore, Rebecca, Maganti, Rajanikarath, Keating, John, Perry, Bain J, Tseng, Florina S, Waliszewski, Nicole, Pokras, Mark, Causey, Robert, Seger, Rita, March, Philip, Tidwell, Amy, Pfannl, Rolf, Seyfried, Thomas, Kolodny, Edwin H, Alroy, Joseph

“…G sub(M1)-gangliosidosis is a rare progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of lysosomal beta…”
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Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease: e0125204 by Clark, Lorraine N, Chan, Robin, Cheng, Rong, Liu, Xinmin, Park, Naeun, Parmalee, Nancy, Kisselev, Sergey, Cortes, Etty, Torres, Paola A, Pastores, Gregory M

“…Objective Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also…”
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