Results 71 to 80 of about 25,057 (208)
, 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
Hao Zhou (136535) +10 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice +10 more
wiley +1 more source
Clinical and Dopamine Transporter Imaging Trajectories in a Cohort of Parkinson's Disease Patients with GBA Mutations [PDF]
, 2022 Background: Glucosylceramidase (GBA) mutations are considered the most common genetic risk factors for developing Parkinson's disease (PD). Objectives: We aimed to assess, at different time points, the integrity of brain striatal and extra-striatal ...
Carli G. +4 more
core +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 +6 more
doaj +1 more source
British Educational Research Journal, EarlyView.Abstract National education in Hong Kong, understood here as a suite of state‐led curricular, co‐curricular and public‐pedagogy measures designed to cultivate national identity, constitutional loyalty and alignment with national development, has become a major focus of educational reform since 2020.
Jason Cong Lin
wiley +1 more source
Business Strategy and the Environment, EarlyView.ABSTRACT Circular economy (CE) and social entrepreneurship (SE) are increasingly recognised as critical pathways for sustainable development, yet CE research often underplays social inclusion, particularly in low‐ and middle‐income countries (LMICs).
Maria L. Granados, Adeyemi Adelekan
wiley +1 more source
GBA mutation type and severity.
, 2020 The distribution of GBA mutations classified as risk variant, mild, and severe mutations.
Joan A. O’Keefe (8259825) +8 more
core +1 more source
Natural Product Communications, 2021 Background and aims: Radiotherapy ranks among the most important procedures in ovarian cancer therapy. However, radioresistance is becoming more prevalent and is one of the main causes of poor clinical outcomes. To overcome this problem, radiosensitizers
Raziyeh Hashemi +6 more
doaj +1 more source
ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.A π‐conjugated carbazole (p‐CBZ) layer is electro‐polymerized on BiVO4 to form a p–n heterojunction that enhances charge separation and suppresses surface recombination, while a NiOOH co‐catalyst accelerates oxygen evolution kinetics. The synergistic BVO/p‐CBZ/NiOOH photoanode delivers a high photocurrent density and long‐term stability for efficient ...
Lakshman Sundar Arumugam +11 more
wiley +1 more source
Orthopaedic Journal of Sports Medicine, 2019 Background: The graft bending angle (GBA), the angle between the femoral bone tunnel and the line connecting the femoral and tibial tunnel apertures, has been proven to influence stress within the graft and could be an important factor in graft healing ...
Hong Li MD +5 more
doaj +1 more source