Results 81 to 90 of about 4,145,470 (290)

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

open access: yes, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Leonard, Helen   +44 more
core   +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

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird   +9 more
wiley   +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 impact of intimacy and disability on the perception toward rehabilitation processes of a person with traumatic injury [PDF]

open access: yes, 2003
Plan BThe purpose of this descriptive research study was to investigate any possible interactions between the person with a traumatic injury and their perceptions of rehabilitation processes dependent on their spousal/domestic partner relationship status
Desler, Sandra
core  

RIFLE Criteria in Critically Ill Neonates with Acute Kidney Injury

open access: yes, 2015
Introduction: Diagnosis of neonatal acute kidney injury (AKI) is a difficult dilemma and there is no consensus in this regard. Based on RIFLE criteria the definition of ARF is changed lately in adult and pediatric groups.
Afjeii, Abolfazl   +4 more
core   +1 more source

Do sleep difficulties exacerbate deficits in sustained attention following traumatic brain injury? [PDF]

open access: yes, 2010
Sustained attention has been shown to be vulnerable following traumatic brain injury (TBI). Sleep restriction and disturbances have been shown to negatively affect sustained attention. Sleep disorders are common but under-diagnosed after TBI.
Espie, C.A.   +2 more
core   +1 more source

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