...Ilaria Signoria; W. Ludo van der Pol; Ewout J. N. Groen ABSTRACT Spinal muscular atrophy (SMA) is a severe, monogenetic, neuromuscular disease. A thorough understanding of its genetic cause and the availability of robust models has led to the development and approval of three gene-targeting...

...Anna L. Gray; Leonette Annan; James R. T. Dick; Albert R. La Spada; Michael G. Hanna; Linda Greensmith; Bilal Malik ABSTRACT Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's Disease, is a late-onset X-linked progressive neuromuscular disease, which predominantly affects males...

.../by/4.0 ), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed. Summary: This Editorial summarizes the highlights of DMM's Special Issue ‘A Guide to Using Neuromuscular Disease Models for Basic and Preclinical Studies...

... distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/4.0 ), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed. Genetic disease Interview Neuromuscular disease...

... stages never reach clinical trials. From those in clinical trials, only 10% obtain marketing approval. Despite the recent advances in our understanding and diagnosis of neuromuscular disease, and the development of rational therapies in clinical trials, these numbers have not changed dramatically over...

... in any medium provided that the original work is properly attributed. Genetic disease Interview Neuromuscular disease DMM thanks Elizabeth for her willingness to be interviewed and for sharing her unique experiences and perspectives with us. Elizabeth was interviewed by Julija Hmeljak...