Results 31 to 40 of about 25,057 (208)

Association of GBA genotype with motor and cognitive decline in Chinese Parkinson’s disease patients

Frontiers in Aging Neuroscience, 2023
ObjectiveVariants in the glucocerebrosidase (GBA) gene are the most common and significant risk factor for Parkinson’s disease (PD). However, the impact of GBA variants on PD disease progression in the Chinese population remains unclear. This study aimed
Jingru Ren, Gaiyan Zhou, Yajie Wang, Ronggui Zhang, Zhiying Guo, Hao Zhou, Huifen Zheng, Yu Sun, Changyan Ma, Ming Lu, Weiguo Liu   +10 more
doaj   +1 more source

Subthalamic Peak Beta Ratio Is Asymmetric in Glucocerebrosidase Mutation Carriers With Parkinson's Disease: A Pilot Study

Frontiers in Neurology, 2021
Introduction: Up to 27% of individuals undergoing subthalamic nucleus deep brain stimulation (STN-DBS) have a genetic form of Parkinson's disease (PD).
Fabian J. David, Miranda J. Munoz, Jay L. Shils, Michael W. Pauciulo, Philip T. Hale, William C. Nichols, Mitra Afshari, Sepehr Sani, Leo Verhagen Metman, Daniel M. Corcos, Gian D. Pal, Gian D. Pal   +11 more
doaj   +1 more source

A NOVEL SYNTHETIC AND RECOMBINANT GLUCOCEREBROSIDASE FOR GAUCHER DISEASE: IN SILICO MOLECULAR EVOLUTION AND GENE THERAPY APPROACHES TO ENHANCE ENZYME ACTIVITY

Hematology, Transfusion and Cell Therapy, 2023
Background: Gaucher disease (GD) is a rare lysosomal storage disease caused by pathogenic variants in the glucocerebrosidase gene (GBA1) resulting in a markedly decreased activity of the lysosomal enzyme b-glucocerebrosidase (GCase).
LLS Figueiredo, LEB Souza, MD Orellana, DT Covas, F Lichtenstein, V Siciliano, KJ Abraham, R Weiss, SL Gerson, AM Fontes   +9 more
doaj   +1 more source

GBA Data for remote sensing

, 2021
GBA Data for remote ...
XiongHe
core   +1 more source

Unraveling neurotransmitter changes in de novo GBA-related and idiopathic Parkinson's disease

Neurobiology of Disease, 2023
Background: Presently, neurotransmitter deficits in GBA-related Parkinson's disease (GBA-PD) and relationships with cognitive impairment are poorly understood.
Jingru Ren, Lei Yan, Hao Zhou, Chenxi Pan, Chen Xue, Jun Wu, Weiguo Liu   +6 more
doaj   +1 more source

Impulse control behavior in GBA-mutated parkinsonian patients

, 2021
Objective: To assess the prevalence and phenomenology of Impulse control behavior (ICB) in Parkinson's disease (PD) patients carrying mutations in the β-glucocerebrosidase (GBA) gene.
Albanese A., Amami P., Federica Invernizzi, Barbara Garavaglia, Alberto Albanese, Paolo Amami, Tiziana De Santis   +6 more
core   +1 more source

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. [PDF]

PLoS ONE, 2015
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.We performed a genetic analysis of four LSD genes including GBA, HEXA ...
Lorraine N Clark, Robin Chan, Rong Cheng, Xinmin Liu, Naeun Park, Nancy Parmalee, Sergey Kisselev, Etty Cortes, Paola A Torres, Gregory M Pastores, Jean P Vonsattel, Roy Alcalay, Karen Marder, Lawrence L Honig, Stanley Fahn, Richard Mayeux, Michael Shelanski, Gilbert Di Paolo, Joseph H Lee   +18 more
doaj   +1 more source

Cloud-Edge-Terminal-Based Synchronized Decision-Making and Control System for Municipal Solid Waste Collection and Transportation

Mathematics, 2022
Due to dynamics caused by factors such as random collection and transportation requirements, vehicle failures, and traffic jams, it is difficult to implement regular waste collection and transportation schemes effectively.
Ming Wan, Ting Qu, Manna Huang, Xiaohua Qiu, George Q. Huang, Jinfu Zhu, Junrong Chen   +6 more
doaj   +1 more source

Longitudinal clinical, cognitive, and neuroanatomical changes over 5 years in GBA-positive Parkinson’s disease patients

, 2022
Objective: To study the longitudinal disease course of Parkinson’s disease (PD) patients with glucocerebrosidase (GBA) mutation (GBA-positive) compared to PD non-carriers (GBA-negative) along a 5-year follow-up, evaluating changes in clinical and ...
Stojkovic T., Kresojevic N., Kostic V. S., Agosta F., Tomic A., Basaia S., Canu E., Petrovic I., Stankovic I., Stefanova E., Sarasso E., Markovic V., Filippi M., Leocadi M., Donzuso G., Piramide N.   +15 more
core   +1 more source

Demographic and clinical features of GBA variant carriers (Deleterious GBA-carriers and Benign GBA-carriers) and non-carriers.

, 2016
Demographic and clinical features of GBA variant carriers (Deleterious GBA-carriers and Benign GBA-carriers) and non-carriers.
Pilar Gómez-Garre (215327), Pablo Mir (3605141), Marta Bonilla-Toribio (3605162), Myriam Gómez-Llamas (3605159), Ismael Huertas (3605144), Enrique Calderón (520237), Fátima Carrillo (3605150), Inmaculada Bernal-Bernal (3605135), María Teresa Cáceres-Redondo (3605147), Laura Vargas-González (3605138), Manuel Carballo (3605153), Silvia Jesús (3605156)   +11 more
core   +1 more source