# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!

 

X-linked spinal muscular atrophy

Arthrogryposis Multiplex Congenita Distal X-LinkedXLSMAAMCX1
Get Update

Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "X-linked spinal muscular atrophy" returned 0 free, full-text review articles. First 0 results:
X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity.
Last Updated: Nov 08, 2019

Spinal and Bulbar Muscular Atrophy (SBMA) is an inherited neuromuscular disorder caused by a CAG-polyglutamine (polyQ) repeat expansion in the androgen receptor (AR) gene. Unlike other polyQ diseases, where the function of the native causative protein is unknown, the biology of AR ...

Full PubMed Review articles matches at NCBI:
0 Free Review Articles 1 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "X-linked spinal muscular atrophy" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
Full PubMed Editorials matches at NCBI:
0 Free Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "X-linked spinal muscular atrophy" returned 6 free, full-text research articles. First few results:
X-linked spinal and bulbar muscular atrophy (Kennedy's disease): the first case described in the Brazilian Amazon.
Last Updated: Nov 14, 2018

The X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. The disease is caused by an expansion of the CAG repetition ...

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene.
Last Updated: Apr 12, 2019

Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented ...

Theory of mind, empathy and neuropsychological functioning in X-linked spinal and bulbar muscular atrophy: a controlled study of 20 patients.
Last Updated: Nov 13, 2018

Recent studies have described brain involvement, mainly at frontal level, in patients with spinal and bulbar muscular atrophy (SBMA), a rare adult-onset motor neuron disease caused by a CAG repeat in the androgen receptor (AR) gene. The aim of our research was to investigate the poorly ...

Full PubMed Research articles matches at NCBI:
6 Free Research Articles 46 Research Articles