Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

• KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity

  2026 Genes & Development preprint Biochemistry, Genetics and Molecular Biology Kruppel-like factors research Open access

  2

  citations
• Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities

  2024 Cold Spring Harbor Perspectives in Biology preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  9

  citations
• Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression

  2024 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 2 patents

  21

  citations
• DUX4 expression in cancer induces a metastable early embryonic totipotent program

  2023 Cell Reports article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access cited by 1 patent

  19

  citations
• Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design

  2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  2

  citations
• Elevated plasma complement components in facioscapulohumeral dystrophy

  2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  21

  citations
• Natural History of Facioscapulohumeral Dystrophy in Children

  2021 Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  26

  citations
• Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy

  2021 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 5 patents

  34

  citations
• Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

  2021 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 2 patents

  23

  citations
• Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies

  2021 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  7

  citations
• Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice

  2020 Skeletal Muscle article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  13

  citations
• The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy

  2020 Current Opinion in Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 7 patents

  10

  citations
• Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

  2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent

  75

  citations
• Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies

  2020 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 6 patents

  84

  citations

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