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    Glossary Emery-Dreifuss muscular dystrophy

    genetic disorder causing muscle weakness, joint contractures, and heart issues

    Emery-Dreifuss muscular dystrophy (EDMD) is a genetic disorder characterized by progressive muscle weakness, joint contractures, and heart problems. It typically affects the skeletal muscles and the heart, leading to difficulties in movement and an increased risk of cardiac complications. EDMD can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner, depending on the specific genetic mutation involved.

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    1. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts Cells · 2025
    2. From structural resilience to cell specification — Intermediate filaments as regulators of cell fate ˜The œFASEB journal · 2020 · 9 citations
    3. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    4. Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease Stem cell biology and regenerative medicine · 2018
    5. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    6. Syndromes of Severe Insulin Resistance (SSIRs) 2004
    7. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    8. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    9. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease Journal of Cell Science · 2008 · 85 citations
    10. Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin Human Molecular Genetics · 2008 · 48 citations
    11. Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament Genomics · 2007 · 27 citations
    12. Second International Symposium—Epigenetic Regulation of Skin Regeneration and Aging: From Chromatin Biology towards the Understanding of Epigenetic Basis of Skin Diseases 2017 · 2 citations
    13. Docetaxel, cisplatin and 5-fluorouracil in patients with locally advanced unresectable head and neck cancer: a phase I–II feasibility study Annals of Oncology · 2004 · 78 citations
    14. Postmarketing Surveillance of New Antiepileptic Drugs: The Tribulations of Trials Epilepsia · 2002 · 12 citations
    15. Issues in the Treatment of Epilepsy Epilepsia · 2001 · 4 citations
    16. Corrective and Restorative Dermatology in Cancer Survivors: An Urgent Unmet Need! American Journal of Clinical Dermatology · 2026
    17. Androgen receptor gene polymorphism and biological age markers in men Scientific Reports · 2025
    18. TOXIC EPIDERMAL NECROLYSIS International Journal of Dermatology · 1992 · 48 citations
    19. Anticonvulsant-Induced Cutaneous Reactions CNS Drugs · 1999 · 18 citations
    20. An Effective Auricular Keloids Management Method: Excision of the Original Lesion and Postoperative Corticosteroids Aesthetic Plastic Surgery · 2025 · 1 citations
    21. Cyclosporin A Promotes Hair Epithelial Cell Proliferation and Modulates Protein Kinase C Expression and Translocation in Hair Epithelial Cells Journal of Investigative Dermatology · 2001 · 45 citations
    22. Skin cancer: understanding the journey of transformation from conventional to advanced treatment approaches Molecular cancer · 2023 · 16 citations
    23. Impact of the Different Preparation Methods to Obtain Human Adipose-Derived Stromal Vascular Fraction Cells (AD-SVFs) and Human Adipose-Derived Mesenchymal Stem Cells (AD-MSCs): Enzymatic Digestion Versus Mechanical Centrifugation International Journal of Molecular Sciences · 2019 · 124 citations
    24. Analysis of the microRNA expression profile of normal human dermal papilla cells treated with 5α-dihydrotestosterone Molecular Medicine Reports · 2012 · 22 citations
    25. Biopolymer-Based Hydrogels for Wound Healing: Advances in Cellulose, Chitosan, Alginate, and Hyaluronic Acid from Design to Clinical Translation Pharmaceuticals · 2026
    26. Every TURP Is not Just BPH American Journal of Clinical Pathology · 2022
    27. What every physician should know about polycystic ovary syndrome Dermatologic therapy · 2008 · 33 citations
    28. Is Every Patient of Hair Loss a Candidate for Hair Transplant?—Deciding Surgical Candidacy in Pattern Hair Loss Indian Journal of Plastic Surgery · 2021 · 3 citations
    29. Androgenetic alopecia and microneedling: Every needling is not microneedling Journal of The American Academy of Dermatology · 2019 · 5 citations
    30. Ten pearls every dermatologist should know about the appropriate use of relaxers Journal of cosmetic dermatology · 2016 · 4 citations