Results 111 to 120 of about 2,490 (187)

MODELLING GBA1-RELATED PARKINSON¿S DISEASE PATHOLOGY IN PATIENT-DERIVED MIDBRAIN ORGANOIDS

, 2023
Aggregation of α-synuclein protein in “Lewy bodies” and “Lewy neurites” and dopaminergic neuronal loss in the nigrostriatal system are the key neuropathological hallmarks of Parkinson’s disease.
FRATTINI, EMANUELE
core  

Medical Literature in the Age of Artificial Intelligence

iNew Medicine, Volume 2, Issue 2, June 2026.
Hunter Scott
wiley   +1 more source

Macitentan in the treatment of pulmonary hypertension in Gaucher‚s disease. [PDF]

Anatol J Cardiol, 2020
Taylan G, Aktoz M, Celik M, Yılmaztepe M.   +3 more
europepmc   +1 more source

An Unusual Presentation of Gaucher’s Disease: Aortic Valve Fibrosis in a Patient Homozygous for a Rare G377S Mutation

, 2010
Gaucher’s disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations ...
Kardum-Skelin, Ika, Jelić Puškarić, Biljana, Vrhovac, Radovan, Ika Kardum-Skelin, Zinaida Perić, Biljana Jelić Puškarić, Tomislav Letilović, Branimir Jakšić, Jakšić, Branimir, Perić, Zinaida, Letilović, Tomislav, Radovan Vrhovac   +11 more
core  

Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson’s disease

Translational Neurodegeneration
Parkinson’s disease (PD) is the second most common neurodegenerative disease. The development of PD is closely linked to genetic and environmental factors, with GBA1 variants being the most common genetic risk.
Xuxiang Zhang, Heng Wu, Beisha Tang, Jifeng Guo   +3 more
doaj   +1 more source

The Impact of Provider Choice on Workers' Compensation Costs and Outcomes [PDF]

We study how provider choice in workers' compensation cases affects costs and outcomes. When employees choose the provider, costs are higher and return-to-work outcomes are worse, while physical recovery is the same although satisfaction with medical ...
Peter S. Barth, David Neumark, Richard Victor   +2 more
core  

Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease. [PDF]

Orphanet J Rare Dis, 2020
Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, Gomez-Barrera B, Pérez-Heredia J, Iniguez D, Giraldo P.   +9 more
europepmc   +1 more source

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Beta Thalassemia Major with Gaucher's Disease: A Rare Entity. [PDF]

Cureus, 2019
Bai N, Nasir S, Ahmed J, Malik F, Bin Arif T.   +4 more
europepmc   +1 more source