Results 81 to 90 of about 83,768 (184)
Ginsenoside Rg1 (Rg1) from Panax ginseng shows multifunctional health effects. Although oral bioavailability is low and blood–brain barrier (BBB) penetration is limited, delivery systems such as liposomes and nanoparticles may improve exposure. Rg1 reduces inflammation/oxidative stress by inhibiting nuclear factor‐κB (NF‐κB) signaling and reactive ...
Hernán Cortés +13 more
wiley +1 more source
Childhood-onset (Juvenile) Huntington's disease: A rare case report
Huntington′s disease (HD) is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic) movements, neuropsychiatric manifestations, and dementia.
K. Patra, M. Shirolkar
semanticscholar +1 more source
ABSTRACT Background Huntington's disease has a disruptive effect on entire families. While previous reviews have examined lived experiences of individuals with Huntington's Disease, their informal caregivers, or their offspring, none have provided a comprehensive overview that integrates these three perspectives. Design A scoping review. Aims Providing
Cathelijn Van Baar +4 more
wiley +1 more source
The CAG repeat at the Huntington disease gene in the Portuguese population : insights into its dynamics and to the origin of the mutation [PDF]
Huntington disease (HD) is caused by an expansion of a CAG repeat. This repeat is a dynamic mutation that tends to undergo intergenerational instability.
Alda Sousa +27 more
core +1 more source
Modulators of Diacylglycerol Kinase Activity: A Review of Advances and Challenges
ABSTRACT Catalyzing the conversion of diacylglycerol (DAG) in phosphatidic acid (PA), diacylglycerol kinases (DGKs) play a pivotal role in all the physiological processes modulated by these two bioactive lipids, such as lipid metabolism and immune regulation.
Luisa Racca +2 more
wiley +1 more source
Juvenile‐onset Huntington's disease – Spectrum and evolution of presenting movement disorders
Juvenile‐onset Huntington's disease (HD) is a rare subset of HD with symptom‐onset before the age of 18. In contrast to the adult population, children present early‐on with behavioral, psychiatric, and cognitive symptoms, in addition to a diverse ...
Kathryn Yang +6 more
doaj +1 more source
Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams ...
GILBERTO LEVY +4 more
doaj +1 more source
Background There is a pressing need to improve the accuracy of rare disease clinical study endpoints. Neutral theory, first described here, can be used to assess the accuracy of endpoints and improve their selection in rare disease clinical studies ...
Ravi Jandhyala
doaj +1 more source
El trabajo interdisciplinar en la enfermedad de Huntington [PDF]
Se argumenta la importancia del trabajo en equipo en la atención de las personas afectadas por la Enfermedad de Huntington y de sus familias, y se describen las principales funciones de los distintos profesionales que han de cubrir sus necesidades en ...
Fernández Hawrylak, María +3 more
core
Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice [PDF]
Huntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1%
A Durr +39 more
core +1 more source

