Results 171 to 180 of about 462,681 (313)
Editorial: Improving the reporting and sound methodology of scientific articles: introduction of an editorial series. [PDF]
Overgaard S +14 more
europepmc +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Методичні вказівки до самостійної роботи з дисципліни „Історія зарубіжної літератури“ для студентів 1 курсу спеціальності „Переклад” заочної форми навчання / уклад. Н. П. Гура – Запоріжжя : ЗНТУ, 2016.
Gura, Natalya P. +2 more
core
Ethical analysis of the European normative framework on fertility preservation. [PDF]
Aleksandrova-Yankulovska S +4 more
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
The independent director and effective corporate governance
As a response to the rash of scandals in particularly USA and Europe in recent times, corporate governance has elicited a lot of interest worldwide. Today there is growing dialogue among the different stakeholders about corporate governance and how it ...
Iwe, Chizaboda
core
Effectiveness of Guideline-Based Clinical Decision Support Systems: Protocol for a Systematic Review. [PDF]
Aksu BN +3 more
europepmc +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Methodological limitations of NOM in the WSES acute appendicitis guidelines. [PDF]
Grosso PH, Grosso JV, Dias Filho FA.
europepmc +1 more source

