Results 81 to 90 of about 10,573,620 (195)
Brain and Behavior, Volume 16, Issue 8, August 2026.Epigenetic mechanismsincluding DNA methylation, histone modifications, and microRNA (miRNA) regulationmodulate gene expression without altering the DNA sequence and are increasingly implicated in the cognitive impairment associated with Parkinson's disease (PD). Environmental and molecular factors influence these epigenetic pathways, leading to altered
Fatemeh Hasani +10 more
wiley +1 more source
Frontiers in Genetics, 2014 Gaucher’s disease is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalysis the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose.
Madhumathi eManickam +4 more
doaj +1 more source
A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders
Clinical Pharmacology &Therapeutics, Volume 120, Issue 2, Page 357-374, August 2026.Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel +3 more
wiley +1 more source
Repercussions of Diagnostic Delay in Rare Diseases
Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista +5 more
wiley +1 more source
God's Presence in the Aisle: How God Salience Encourages Preference for Ultra‐Processed Foods
Psychology &Marketing, Volume 43, Issue 8, Page 1859-1877, August 2026.ABSTRACT God‐related cues are pervasive in consumers' daily lives, yet little research has examined how God salience shapes consumer food choices. Drawing on compensatory control theory and the literature on symbolic healing, we present findings from six studies, including a field experiment, demonstrating that high (vs.
Ali Gohary, Hean Tat Keh
wiley +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Role of Partial Splenectomy in Gaucher's Disease in Resource Challenged Nations. [PDF]
J Indian Assoc Pediatr Surg, 2023 Santanakrishnan R +4 more
europepmc +1 more source
Scientific ReportsA slow decline in the autophagy-lysosomal pathway is a hallmark of the normal aging brain. Yet, an acceleration of this cellular function may propel neurodegenerative events. In fact, mutations in genes associated with the autophagy-lysosomal pathway can
Matteo Ciccaldo +13 more
doaj +1 more source
Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease. [PDF]
Front Med (Lausanne), 2023 Valero-Tena E +5 more
europepmc +1 more source
Tuberculous sacroiliitis in a patient with Gaucher disease
Терапевтический архив, 2013 Gaucher disease (GD) is an inherited enzymatic defect resulting from a deficiency of acid Β-glucosidase, a lysosomal enzyme involved in the degradation of cell metabolic products. The major clinical manifestations of GD are hepatosplenomegaly, cytopenia,
E A Lukina +5 more
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