Results 91 to 100 of about 4,460,775 (261)
Movement Disorders Clinical Practice, EarlyView.Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan +14 more
wiley +1 more source
Journal of Biological Researches, 2012 Our previous experiment showed that prenatal exposure of rats to X-irradiation on gestation day 21st as the late gestation period causes heterotopic Purkinje cells and abnormal foliation of the cerebellum.
WIN DARMANTO
doaj +1 more source
Regularity, variabilty and bi-stability in the activity of cerebellar Purkinje cells
Frontiers in Cellular Neuroscience, 2009 Recent studies have demonstrated that the membrane potential of Purkinje cells is bi-stable and that this phenomenon underlies bi-modal simple spike firing.
Dan Rokni +3 more
doaj +1 more source
Reading out a spatiotemporal population code by imaging neighbouring parallel fibre axons in vivo. [PDF]
, 2015 The spatiotemporal pattern of synaptic inputs to the dendritic tree is crucial for synaptic integration and plasticity. However, it is not known if input patterns driven by sensory stimuli are structured or random.
Wilms, CD, Häusser, M
core
Movement Disorders Clinical Practice, EarlyView.Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider +3 more
wiley +1 more source
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42
Neurobiology of Disease, 2019 Spinocerebellar ataxia 42 (SCA42) is a neurodegenerative disorder recently shown to be caused by c.5144G > A (p.Arg1715His) mutation in CACNA1G, which encodes the T-type voltage-gated calcium channel CaV3.1. Here, we describe a large Japanese family with
Shunta Hashiguchi +38 more
doaj +1 more source
Driving Cerebellar Theta Oscillations Interferes With Voluntary Neck Movements in Cervical Dystonia
Movement Disorders, EarlyView.Abstract Background Cervical dystonia (CD) is a movement disorder with a complex pathophysiology, including cerebellar abnormalities. Transcranial alternating current stimulation (tACS), a noninvasive neuromodulation technique capable of entraining brain oscillations, can transiently modulate neuronal activity and enhance resonant rhythms.
Davide Costa +9 more
wiley +1 more source
Conversion of Unmodified Stem Cells to Pacemaker Cells by Overexpression of Key Developmental Genes
, 2023 Arrhythmias of the heart are currently treated by implanting electronic pacemakers and defibrillators. Unmodified adipose tissue-derived stem cells (ASCs) have the potential to differentiate into all three germ layers but have not yet been tested for the
Tahereh Karimi +3 more
core +1 more source
Early Longitudinal Brain Network Changes in Huntington's Disease Before Clinical Motor Onset
Movement Disorders, EarlyView.Abstract Background Longitudinal studies of seed‐based functional connectivity (SBFC) in young adult Huntington's disease gene‐expanded (HDGE) individuals are rare, and none, to our knowledge, have examined adult cohorts decades from predicted clinical motor diagnosis.
Michela Leocadi +13 more
wiley +1 more source
JCI InsightRecent studies have identified multiple genetic variants of SEL1L-HRD1 endoplasmic reticulum–associated degradation (ERAD) in humans with neurodevelopmental disorders and locomotor dysfunctions, including ataxia.
Mauricio Torres +7 more
doaj +1 more source