Books and Online Resources

Books, Articles and Journals

Facioscapulohumeral muscular dystrophyWikipedia article maintained by the FSH Society Journal Club members.

Facioscapulohumeral DiseasePadberg, G.W.A.M., 1982, Doctoral Thesis, Leiden University. Landmark, classic work. (Free Access.)

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Rabi Tawil, Silvère M van der Maarel and Stephen J Tapscott. In Skeletal Muscle. (Free Access.)

Long noncoding RNAs, emerging players in muscle differentiation and disease. Maria Victoria Neguembor, Mathivanan Jothi and Davide Gabellini in Skeletal Muscle. (Free Access.)

Facioscapulohumeral Muscular Dystrophy (FSHD): Clinical Medicine and Molecular Cell Biology. Edited by Meena Upadhhyaya and David Cooper. Taylor and Francis e-Library 2005. View eBook. Purchase from Amazon.

Neuromuscular Disease: From Basic Mechanisms to Clinical Management (Frontiers of Neurology and Neuroscience). Editor: F Deymeer F. Clin Neurosci. Basel, Karger, 2000. vol 18. pp 44-60. On Amazon.

Online Resources

Bloomington Drosophila Stock center distributes drosophila lines for studying DUX4 and FRG1 overexpression under “Genes of interest for muscular dystrophy.”

Entrez Cross Database Search

Exome Aggregation Consortium (ExAC). Curated by Broad Institute. The data set provided on this website spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. ExAD is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects, and to make summary data available for the wider scientific community.

Gene Expression Omnibus (GEO). Search for specific profiles of interest based on gene annotation or pre-computed profile characteristics. Enter search term “FSHD” to locate profiles of interest.

Gene Expression Omnibus (GEO) DataSets Repository. Enter search term “FSHD” to locate experiments of interest.

Leiden Open Variation Database (LOVD) mutation database. Curated by Richard Lemmers. All researchers are encouraged to submit data on FSHD genotypes to LOVD, to facilitate access by the entire research community to information on FSHD mutations.

Microarray Datasets. A directory compiled by Christopher Banerjee.

PEPR Portal at Children’s National Medical Center, Washington DC. The Public Expression Profiling Resource (PEPR) is a Research Center for Genetic Medicine, Children’s National Medical Center, Washington DC experiment in web-database access to large multi-dimensional data sets using a standardized experimental platform. The primary goal of PEPR is to determine if the larger scientific community can be given simple, intuitive, and user-friendly web-based access to large microarray data sets. Note that all data in PEPR is also available via NCBI GEO.

    • PEPR Portal Search. Enter Project and enter search keyword “FSHD” to access. Please click here.

PubMed. A free database accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics. It is maintained by the United States National Library of Medicine at the National Institutes of Health. To run a PubMed query and search for FSHD and related terms, click here.

UCSC Genome BioinformaticsThis site contains the reference sequence and working draft assemblies for a large collection of genomes. It also provides a portal to the ENCODE project.

Washington University St. Louis Neuromuscular Page: Facioscapulhumeral Muscular Dystrophy. An extensive compendium of scientific information about FSHD. Frequently updated.


Small molecule biologics gene therapy repurposing resources ; lead development, IND enabling studies

Small molecule hit generation, hit to lead and Ind enabling

Biologic hit to lead and IND enabling

Program to encourage drug repurposing and drug rescue

Apply for high throughput screening and follow up chemistry 

Clinical and observational studies

There is no neuromuscular group but there is a ALS and related diseases group 

Therapeutic trial network that distinct IND ready projects can apply to for resources

Other resource access translational programs at the NIH