Results 31 to 40 of about 19,114 (240)

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

Detection of Microbial Growth on Indoor Building Materials in Two Countries Using qPCR

Microorganisms
According to several reports, 10–50% of buildings in Europe and worldwide suffer from moisture problems, which can lead to microbial growth in building materials. Unrepaired moisture and microbial damage can lead to the degradation of building structures
Helena Rintala, Oliver Röhl, Pinja Tegelberg, Teija Meklin   +3 more
doaj   +1 more source

Legal Approaches and Regulatory Methods for Fintech in the Guangdong – Hong Kong – Macao Greater Bay Area

Journal of Digital Technologies and Law
Objective: To look at the fintech regulatory policy and regulatory system in the Greater Bay Area through the lens of the Trilemma of Innovation doctrine in order to identify the applicability and extrapolation of existing legal models in the zone of ...
Y. Kuchina
doaj   +1 more source

Post-translational proteomics platform identifies neurite outgrowth impairments in Parkinson’s disease GBA-N370S dopamine neurons

Cell Reports, 2023
Summary: Variants at the GBA locus, encoding glucocerebrosidase, are the strongest common genetic risk factor for Parkinson’s disease (PD). To understand GBA-related disease mechanisms, we use a multi-part-enrichment proteomics and post-translational ...
Helle Bogetofte, Brent J. Ryan, Pia Jensen, Sissel I. Schmidt, Dana L.E. Vergoossen, Mike B. Barnkob, Lisa N. Kiani, Uroosa Chughtai, Rachel Heon-Roberts, Maria Claudia Caiazza, William McGuinness, Ricardo Márquez-Gómez, Jane Vowles, Fiona S. Bunn, Janine Brandes, Peter Kilfeather, Jack P. Connor, Hugo J.R. Fernandes, Tara M. Caffrey, Morten Meyer, Sally A. Cowley, Martin R. Larsen, Richard Wade-Martins   +22 more
doaj   +1 more source

Deep Ultraviolet Dual Comb from a Thin-Disk Laser

Ultrafast Science
Dual-comb spectroscopy provides a marked advantage over single-comb techniques for molecular fingerprinting, particularly in terms of scanning speed. The single-cavity dual-comb system is a simpler approach to dual-comb operation.
Quanming Li, Hanze Bai, Xiaodan Teng, Hongshan Chen, Haijing Mai, Zhitao Zhang, Jinwei Zhang, Hongwen Xuan   +7 more
doaj   +1 more source

Parkinson’s Clustering in Families of Non-Neuronopathic N370S Mutation Carriers Indicates the Presence of Genetic Modifiers

Journal of Parkinson’s Disease, 2021
Low penetrance of Parkinson’s disease (PD) associated with GBA pathogenic variants indicates the presence of modifiers genes. Clusters of PD cases in certain families with GBA variants would serve as a strong evidence for the clinical relevance of such ...
Tama Dinur, Michal Becker-Cohen, Shoshana Revel-Vilk, Ari Zimran, David Arkadir   +4 more
doaj   +1 more source

Tracking Motor Progression and Device‐Aided Therapy Eligibility in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterise the progression of motor symptoms and identify eligibility for device‐aided therapies in Parkinson's disease, using both the 5‐2‐1 criteria and a refined clinical definition, while examining differences across genetic subgroups.
David Ledingham, Sahana Sathyanarayana, Charlotte B. Stewart, Robyn Iredale, Victoria Foster, Debra Galley, Mark Baker, Nicola Pavese   +7 more
wiley   +1 more source

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Stem Cell Research, 2019
Gaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with ...
Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann, Rebecca Schüle, Ulrike Ulmer   +6 more
doaj   +1 more source

Influence of femoral tunnel exit on the 3D graft bending angle in anterior cruciate ligament reconstruction

Journal of Experimental Orthopaedics, 2021
Purpose To quantify the influence of the femoral tunnel exit (FTE) on the graft bending angle (GBA) and GBA‐excursion throughout a full range of motion (ROM) in single‐bundle anterior cruciate ligament (ACL) reconstruction. Methods Three‐dimensional (3D)
Sandro Hodel, Sylvano Mania, Lazaros Vlachopoulos, Philipp Fürnstahl, Sandro F. Fucentese   +4 more
doaj   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source