Results 81 to 90 of about 43,760 (283)
Reflex Epilepsy Induced by “Soroban”, A Japanese Calculator
Pediatric Neurology Briefs, 1991 Three patients with reflex epilepsy and myoclonic jerks of the right arm and fingers precipitated by calculation using a Soroban are reported from the Department of Neuropsychiatry, Osaka University Medical School, Fukushima-ku, Osaka, Japan.
J Gordon Millichap
doaj +1 more source
Analysis of optimal control problem formulations in skeletal movement predictions [PDF]
, 2012 Postprint (published ...
De Groote, Friedl +2 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 more
wiley +1 more source
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
Startle disease-two sibling cases
The Turkish Journal of Pediatrics, 2005 Startle disease (hyperekplexia) is a rare non-epileptic disorder characterized by hypertonia, generalized stiffness and brief muscle jerks in response to unexpected auditory, somatosensory and visual stimuli.
Mürüvet Elkay +4 more
doaj
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Speed response of brushless DC motor using fuzzy PID controller under varying load condition
Journal of Electrical Systems and Information Technology, 2017 The increasing trend towards usage of precisely controlled, high torque, efficient and low noise motors for dedicated applications has attracted the attention of researcher in Brushless DC (BLDC) motors.
Akash Varshney +2 more
doaj +1 more source
A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]
, 2013 Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Alessandra Maresca +11 more
core +4 more sources
Research progress on biomarkers of traumatic brain injury
Animal Models and Experimental Medicine, EarlyView.Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen +8 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Intermittent hypobaric hypoxia (IHH) enhances oxygen transport, muscle metabolism, and cardiovascular health; however, the combined effects of hypobaria and cold are less well understood. Exposure to these stressful environmental factors, even intermittently, can affect skeletal muscle due to its plasticity, thereby altering its metabolic and ...
Garoa Santocildes +3 more
wiley +1 more source