Results 111 to 120 of about 147,743 (211)

Effects of adenosine triphosphate, thiamine pyrophosphate, melatonin, and liv-52 on subacute pyrazinamide proliferation hepatotoxicity in rats. [PDF]

open access: yesBMC Pharmacol Toxicol
Ciftel S   +8 more
europepmc   +1 more source

Considerations for drug trials in hypertrophic cardiomyopathy

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1095-1112, April 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition with potentially serious manifestations. Management has traditionally comprised therapies to palliate symptoms and implantable cardioverter‐defibrillators to prevent sudden cardiac death. The need for disease‐modifying therapies has been recognized for decades.
John P. Farrant   +17 more
wiley   +1 more source

Pseudoaneurysms as a complication of stereoelectroencephalography: Case series and clinical recommendations

open access: yesEpilepsia, EarlyView.
Abstract Objective Stereoelectroencephalography (sEEG) is commonly employed in the workup for epilepsy surgery in patients with focal drug‐resistant epilepsy (DRE). Intracranial hemorrhage is a known complication, with reported incidence rates ranging from .9% to 19.1%. Rarely, pseudoaneurysms have been reported in literature as a potential cause. This
Youssra El Khou   +35 more
wiley   +1 more source

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase. [PDF]

open access: yesMov Disord
Harrer P   +21 more
europepmc   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

open access: yesEpilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov   +10 more
wiley   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

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