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]

open access: yesActa Orthop
Overgaard S   +14 more
europepmc   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Methodical Guidelines for Self-Guided Work on discipline “Foreign Literature” for 1st year students majoring in Translation of extramural study

open access: yes, 2016
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]

open access: yesBMC Med Ethics
Aleksandrova-Yankulovska S   +4 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yes, 2014
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  

A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

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