Results 61 to 70 of about 5,744 (198)
Neurobiology of Disease, 2017 FD is a rare neurodegenerative disorder caused by a mutation of the IKBKAP gene, which induces low expression levels of the Elongator subunit IKAP/hELP1 protein.
Mylène Hervé, El Chérif Ibrahim
doaj +1 more source
Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia. [PDF]
PLoS ONE, 2011 Familial dysautonomia (FD) is a developmental neuropathy of the sensory and autonomous nervous systems. The IKBKAP gene, encoding the IKAP/hELP1 subunit of the RNA polymerase II Elongator complex is mutated in FD patients, leading to a tissue-specific ...
Rachel Cohen-Kupiec +3 more
doaj +1 more source
Effect of Surgical Fusion on Volitional Weight-Shifting in Individuals With Adolescent Idiopathic Scoliosis [PDF]
, 2016 Study Design Prospective. Objectives The goals of this study were to (1) evaluate the differences in weightbearing symmetry between individuals with adolescent idiopathic scoliosis (AIS) and typically developing controls; (2) observe the effect of ...
Graf, Adam +8 more
core +2 more sources
Patterns of parenteral nutrition use in the inpatient setting: A retrospective cohort study
Nutrition in Clinical Practice, EarlyView.Abstract Background Parenteral nutrition (PN) supports patients unable to absorb sufficient nutrients from their gastrointestinal tracts. Yet, information about the patterns and extent of PN's in‐hospital use is lacking. Data on this topic should provide comparison points for nutrition support teams and hospital administrators examining PN use in their
Marc Romain +7 more
wiley +1 more source
Familial distal dysautonomia. [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1989 A patient is described who presented with painful feet on exercise. He had no evidence of peripheral vascular disease but did have anhidrosis and failure of vasodilatation in the hands and feet suggesting peripheral dysautonomia. Examination of his mother and a cousin and clinical histories of blood relatives suggested that his problem was a severe ...
B, Robinson +3 more
openaire +2 more sources
Surprise and the singular plural
American Ethnologist, EarlyView.Abstract Bodymind diversity, disability scholars argue, contributes to community and to ideals of human flourishing. Phenomenologists like Nancy and Arendt, meanwhile, foreground our human pluralism. But what does it mean to inhabit (and invent) a plural “we” across significant bodily difference? And why is the experience of surprise important to it? A
Cheryl Mattingly
wiley +1 more source
Arquivos de Neuro-Psiquiatria, 2013 Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear.
Abelardo Q-C Araujo
doaj +1 more source
Cardiovascular Health in Women—Across the Lifespan
Clinical Endocrinology, EarlyView.ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar +5 more
wiley +1 more source
A conserved and essential basic region mediates tRNA binding to the Elp1 subunit of the Saccharomyces cerevisiae Elongator complex [PDF]
, 2014 Elongator is a conserved, multi-protein complex discovered in Saccharomyces cerevisiae, loss of which confers a range of pleiotropic phenotypes. Elongator in higher eukaryotes is required for normal growth and development and a mutation in the largest ...
Amberg D.C. +5 more
core +4 more sources
Developmental Medicine &Child Neurology, EarlyView.This systematic review identifies and categorizes the spectrum of non‐epileptic paroxysmal events in Rett syndrome. Respiratory disturbances, behavioural episodes, and motor events were the most commonly reported. Improving clinician awareness and diagnostic clarity is key to avoiding unnecessary treatment and enhancing quality of life for individuals ...
Natasha Bhatti, Daniel E. Lumsden
wiley +1 more source