Results 51 to 60 of about 459,876 (311)
Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes [PDF]
, 2017 Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia ...
이필휴 +3 more
core +1 more source
Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation
FEBS Letters, EarlyView.Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe +3 more
wiley +1 more source
Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant
Tremor and Other Hyperkinetic Movements, 2019 Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing.
Carlos Zúñiga-Ramírez +6 more
doaj +1 more source
Diversity and complexity in neural organoids
FEBS Letters, EarlyView.Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley +1 more source
Brittle Dyskinesia Following STN but not GPi Deep Brain Stimulation
Tremor and Other Hyperkinetic Movements, 2014 Background: The aim was to describe the prevalence and characteristics of difficult to manage dyskinesia associated with subthalamic nucleus (STN) deep brain stimulation (DBS).
Ashok Sriram +5 more
doaj +1 more source
FEBS Letters, EarlyView.Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley +1 more source
Psychogenic movement disorders in two children
, 2003 Two schoolboys with diagnostic criteria for psychogenic movement disorder (PMD) are described: one with bizarre tremor of the right hand and a very slow and cautious gait, another with exaggerated trunk sway and collapses during standing and walking. (C)
Yalcinkaya, C +3 more
core +1 more source
A Patient with Recurrent Dyskinesia and Hyperpyrexia Syndrome [PDF]
, 2017 Dyskinesia hyperpyrexia syndrome is a rare medical emergency in Parkinson's disease. It is characterized by continuous dyskinesia associated with hyperthermia, rhabdomyolysis, and alteration of the mental state. We present the case of a 74-year-old woman
이형우, 백민석, 류철형
core +1 more source
Radiological markers of CSF α-synuclein aggregation in Parkinson’s disease patients
npj Parkinson's DiseaseAlpha-synuclein (αS) aggregation is a widely regarded hallmark of Parkinson’s disease (PD) and can be detected through synuclein amplification assays (SAA).
Amgad Droby +17 more
doaj +1 more source
pH‐mediated activation of the lysosomal arginine sensor SLC38A9
FEBS Letters, EarlyView.Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley +1 more source