Results 201 to 210 of about 115,653 (351)

Improvement of EPO Transgene Detection From Polymeric Dried Blood Spots for Antidoping Application

open access: yesDrug Testing and Analysis, EarlyView.
This article presents an optimized protocol for gene doping detection. Starting from one spot DBS (20 μL), concentrated DNA was obtained and real‐time PCR parameters were adjusted for increased detection. Robust detection of 5000 copies/mL of transgene was validated for polymeric device TASSO M‐20.
Alexandre Marchand   +2 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Correction of the Enzymatic and Functional Deficits in a Model of Pompe Disease Using Adeno-associated Virus Vectors

open access: green
Fraites Jr., Thomas J.   +11 more
openalex   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

Methodological validation of a cryo-TEM-based detection method for empty capsid ratio in recombinant adeno-associated virus. [PDF]

open access: yesBiochem Biophys Rep
Xu L   +11 more
europepmc   +1 more source

Multimodal approach to characterize surgically removed epileptogenic zone from patients with focal drug‐resistant epilepsy: From operating room to wet lab

open access: yesEpilepsia Open, EarlyView.
Abstract Objective We have established a comprehensive sample handling protocol designed for the multiscale assessment of epileptogenic tissue. This protocol aims to identify novel therapeutic targets and enhance the diagnosis and stratification of patients with drug‐resistant epilepsy, thereby optimizing their treatment with anti‐seizure medications ...
Jenni Kyyriäinen   +24 more
wiley   +1 more source

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