Associated Papers
Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy.
Šikrová D et al.
Molecular Therapy. Nucleic Acids, 2021
Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects.
Gould T et al.
Diagnostics (basel, Switzerland), 2021
Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD et al.
Biochemical Society Transactions, 2020
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF et al.
Journal of Medical Genetics, 2019
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K et al.
Neurology, 2018
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