Results 21 to 30 of about 134,382 (360)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Long-Term Outcome of Hemimasticatory Spasm [PDF]

open access: yesJournal of Movement Disorders, 2022
Objective This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years.
Somdattaa Ray   +3 more
doaj   +1 more source

Cycle-to-cycle control of swing phase of paraplegic gait induced by surface electrical stimulation [PDF]

open access: yes, 1995
Parameterised swing phase of gait in paraplegics was obtained using surface electrical stimulation of the hip flexors, hamstrings and quadriceps; the hip flexors were stimulated to obtain a desired hip angle range, the hamstrings to provide foot ...
Baardman, G.   +4 more
core   +3 more sources

ER/K linked GPCR-G protein fusions systematically modulate second messenger response in cells. [PDF]

open access: yes, 2017
FRET and BRET approaches are well established for detecting ligand induced GPCR-G protein interactions in cells. Currently, FRET/BRET assays rely on co-expression of GPCR and G protein, and hence depend on the stoichiometry and expression levels of the ...
Dysthe, Matthew   +4 more
core   +1 more source

Pathogenesis and Management of Tetanus

open access: yesUMYU Journal of Microbiology Research, 2018
Tetanus is an infectious disease affecting the central nervous system caused by Clostridium tetani. The bacteria is an anaerobic Gram- positive bacilli that forms spores, which germinate in anaerobic condition to produce an exotoxin known as ...
Abdullahi Samaila   +4 more
doaj   +1 more source

Botulinum Toxin for the Treatment of Hemifacial Spasm: An Update on Clinical Studies

open access: yesToxins, 2021
Hemifacial spasm (HFS) is a movement disorder characterized by involuntary contractions of the facial muscles innervated by the seventh cranial nerve.
Nicola Tambasco   +4 more
doaj   +1 more source

A History of Dystonia: Ancient to Modern [PDF]

open access: yes, 2017
Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to ...
Deborah Thorpe   +3 more
core   +1 more source

Prevalence, incidence, primary care burden and medical treatment of angina in Scotland: age, sex and socioeconomic disparities: a population-based study [PDF]

open access: yes, 2006
Objective: To examine the epidemiology, primary care burden and treatment of angina in Scotland. Design: Cross-sectional data from primary care practices participating in the Scottish continuous morbidity recording scheme between 1 April 2001 and 31 ...
Chalmers, J.   +5 more
core   +2 more sources

Kounis Syndrome Associated With Selective Anaphylaxis to Cefazolin. [PDF]

open access: yes, 2018
info:eu-repo/semantics ...
Chambel, M   +5 more
core   +1 more source

Aetiology of sudden cardiac death in sport: a histopathologist's perspective. [PDF]

open access: yes, 2012
In the UK, when a young person dies suddenly, the coroner is responsible for establishing the cause of death. They will ask a consultant pathologist to carry out an autopsy in order to ascertain when, where and how that person died.
Sheppard, MN
core   +1 more source

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