Related Experiment Video
Updated: Aug 14, 2026

Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction
Published on: April 14, 2022
Overview of Smith-Magenis syndrome
Ann C M Smith1, R Ellen Magenis, Sarah H Elsea
1SMS Research Unit, OCD/National Human Genome Research Institute/National Institutes of Health, Bethesda, MD 20892-1851, USA. acmsmith@mail.nih.gov
Abstract:
Increased awareness of the phenotype associated with SMS permits early diagnosis and optimal management and intervention. From a management standpoint, the unique constellation of behavioral dysfunction and sleep disturbances has a significant impact on the parents, siblings and relatives of individuals with SMS as well as the professionals involved in their care. Support groups for families of persons with SMS like PRISMS in the US [http://www.prisms.org], provide families with up-to-date information, as well as emotional and peer support, enabling them to better care for their child.
Related Concept Videos
Multiple Sclerosis l: Introduction
Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Myasthenia Gravis ll: Pathophysiology
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Mitral Stenosis I: Introduction

