Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

This project includes RNA-sequencing data from human FSHD and control skeletal muscle biopsies. This project includes data from 28 FSHD patients (total 37 samples, including vastus lateralis and tibialis anterior muscles) and 12 control individuals (total 24 samples, including vastus lateralis and tibialis anterior muscles).

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001008337	This project includes RNA-sequencing data from human FSHD and control skeletal muscle biopsies. This project includes data from 28 FSHD patients (total 37 samples, including vastus lateralis and tibialis anterior muscles) and 12 control individuals (total 24 samples, including vastus lateralis and tibialis anterior muscles).	Illumina HiSeq 4000 Illumina NovaSeq 6000 NextSeq 500	65

Publications	Citations
Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers. van den Heuvel A, Lassche S, Mul K, Greco A, San León Granado D, Heerschap A, Küsters B, Tapscott SJ, Voermans NC, van Engelen BGM, van der Maarel SM. Sci Rep 12: 2022 1426	10
Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome. Schätzl T, Todorow V, Kaiser L, Weinschrott H, Schoser B, Deigner HP, Meinke P, Kohl M. Commun Biol 7: 2024 640	0