Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
The spasticity in the motor and functional disability in adults with post-stroke hemiparetic
Fisioterapia em MovimentoIntroduction: Spasticity acts as a limiting factor in motor and functional recovery after Stroke, impairing the performance of daily living activities.
Roberta de Oliveira Cacho +7 more
doaj +1 more source
Submovements During Reaching Movements after Stroke [PDF]
, 2014 Neurological deficits after cerebrovascular accidents very frequently disrupt the kinematics of voluntary movements with the consequent impact in daily life activities.
Ghez, Claude +4 more
core +2 more sources
Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study
Annals of Neurology, EarlyView.Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim +6 more
wiley +1 more source
Modulation of Stretch Reflexes of the Finger Flexors by Sensory Feedback from the Proximal Upper Limb Poststroke [PDF]
, 2006 Neural coupling of proximal and distal upper limb segments may have functional implications in the recovery of hemiparesis after stroke. The goal of the present study was to investigate whether the stretch reflex response magnitude of spastic finger ...
Hoffmann, Gilles +4 more
core +1 more source
Stepping Responses to Treadmill Perturbations vary with Severity of Motor Deficits in Human SCI [PDF]
, 2018 In this study, we investigated the responses to tread perturbations during human stepping on a treadmill. Our approach was to test the effects of perturbations to a single leg using a split-belt treadmill in healthy participants and in participants with ...
Chu, Virginia W. T. +2 more
core +2 more sources
Protocol for Reconstituting Adaptor‐Mediated Activation of Full‐Length Kinesin‐1
Cytoskeleton, EarlyView.ABSTRACT Kinesin‐1 is a member of the kinesin superfamily that plays an essential role in intracellular cargo transport. In the absence of cargo, Kinesin‐1 exhibits low motor activity due to autoinhibition. Multiple studies have demonstrated that adaptor proteins, which link cargos to Kinesin‐1, can activate Kinesin‐1 by releasing the autoinhibition ...
Haruka Masumoto, Kyoko Chiba
wiley +1 more source
Neurophysiological Changes in Post Stroke Spasticity Patients
The Iraqi Journal of Medical Sciences, 2023 Background: A stroke is a serious life-threatening medical condition that occurs when the blood supply to part of the brain is disrupted. Spasticity is a state, in which, there is an increase in muscle tone or stiffness, which might be associated with ...
Safa M. Fawzi +3 more
doaj +4 more sources
Effect of Tendon Vibration on Hemiparetic Arm Stability in Unstable Workspaces [PDF]
, 2015 Sensory stimulation of wrist musculature can enhance stability in the proximal arm and may be a useful therapy aimed at improving arm control post-stroke.
Conrad, Megan O. +3 more
core +4 more sources
Structural and Functional Imaging of Motor Outcomes in Twins With Perinatal Stroke: A Case Report
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Perinatal arterial ischemic stroke (AIS) affects 1 in 4000 live births. Dystonia, affecting ~20% of children following AIS, is characterized by involuntary muscle contractions and abnormal movements. Why some develop dystonia post AIS, while others do not, remains unclear.
Prisca Hsu +8 more
wiley +1 more source