Facioscapulohumeral muscular dystrophy

• A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment

  2026 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  0

  citations
• A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study

  2026 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  5

  citations
• Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy

  2024 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  11

  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
• Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study

  2023 JMIR Formative Research article Computer Science Context-Aware Activity Recognition Systems Open access

  6

  citations
• Facioscapulohumeral muscular dystrophy: the road to targeted therapies

  2023 Nature Reviews Neurology review Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  68

  citations
• Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study (Preprint)

  2022 preprint Computer Science Context-Aware Activity Recognition Systems Open access

  0

  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
• A genome-wide CRISPR/Cas phenotypic screen for modulators of DUX4 cytotoxicity reveals screen complications

  2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  2

  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

10 results