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Facioscapulohumeral muscular dystrophy: the road to targeted therapies.
Tihaya MS, Mul K, Balog J, de Greef JC, Tapscott SJ, Tawil R, Statland JM, van der Maarel SM. Tihaya MS, et al. Nat Rev Neurol. 2023 Feb;19(2):91-108. doi: 10.1038/s41582-022-00762-2. Epub 2023 Jan 10. Nat Rev Neurol. 2023. PMID: 36627512 Free PMC article. Review.
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy (FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in skeletal muscle, which encodes a transcription factor that is active in early embryonic development bu …
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy (FSHD) have revealed that FSHD results from epigene …
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.
Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochmüller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG. Tawil R, et al. Lancet Neurol. 2024 May;23(5):477-486. doi: 10.1016/S1474-4422(24)00073-5. Lancet Neurol. 2024. PMID: 38631764 Clinical Trial.
BACKGROUND: Facioscapulohumeral muscular dystrophy is a hereditary progressive myopathy caused by aberrant expression of the transcription factor DUX4 in skeletal muscle. ...These findings have informed the design and choice of efficacy endpoints for a phase 3 study of los …
BACKGROUND: Facioscapulohumeral muscular dystrophy is a hereditary progressive myopathy caused by aberrant expression of the transcri …
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF. Giardina E, et al. Clin Genet. 2024 Jul;106(1):13-26. doi: 10.1111/cge.14533. Epub 2024 Apr 29. Clin Genet. 2024. PMID: 38685133 Review.
The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. ...
The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. ...
Long-read sequencing improves diagnostic rate in neuromuscular disorders.
Owusu R, Savarese M. Owusu R, et al. Acta Myol. 2023 Dec 20;42(4):123-128. doi: 10.36185/2532-1900-394. eCollection 2023. Acta Myol. 2023. PMID: 38406378 Free PMC article. Review.
Moreover, these methods have simplified the characterization of the D4Z4 repeats in DUX4, facilitating the diagnosis of Facioscapulohumeral muscular dystrophy (FSHD). We review recent studies that have used either ONT or PacBio SMRT sequencing methods and discuss different …
Moreover, these methods have simplified the characterization of the D4Z4 repeats in DUX4, facilitating the diagnosis of Facioscapulohumer …
The FSHD jigsaw: are we placing the tiles in the right position?
Salsi V, Vattemi GNA, Tupler RG. Salsi V, et al. Curr Opin Neurol. 2023 Oct 1;36(5):455-463. doi: 10.1097/WCO.0000000000001176. Epub 2023 Jun 14. Curr Opin Neurol. 2023. PMID: 37338810 Free PMC article. Review.
PURPOSE OF REVIEW: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies, involving over 870,000 people worldwide and over 20 FSHD national registries. ...
PURPOSE OF REVIEW: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies, involving over 870,000 people …
The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes.
Kools J, Deenen JC, Blokhuis AM, Verbeek AL, Voermans NC, van Engelen BG. Kools J, et al. Neuromuscul Disord. 2023 Dec;33(12):964-971. doi: 10.1016/j.nmd.2023.10.020. Epub 2023 Nov 4. Neuromuscul Disord. 2023. PMID: 38016873 Free article.
Facioscapulohumeral dystrophy (FSHD) is the second most prevalent inherited muscular disorder and currently lacks a pharmaceutical treatment. ...
Facioscapulohumeral dystrophy (FSHD) is the second most prevalent inherited muscular disorder and currently lacks a pharmaceutical tr …
Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments.
Duranti E, Villa C. Duranti E, et al. Int J Mol Sci. 2023 May 30;24(11):9503. doi: 10.3390/ijms24119503. Int J Mol Sci. 2023. PMID: 37298453 Free PMC article. Review.
Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by muscle weakness and atrophy. ...
Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by mus …
Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models.
Knox RN, Eidahl JO, Wallace LM, Choudury SG, Rashnonejad A, Daman K, Guggenbiller MJ, Saad NY, Hoover ME, Zhang L, Branson OE, Emerson CP Jr, Freitas MA, Harper SQ. Knox RN, et al. Ann Neurol. 2023 Aug;94(2):398-413. doi: 10.1002/ana.26668. Epub 2023 May 19. Ann Neurol. 2023. PMID: 37186119 Free PMC article.
OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is caused by abnormal de-repression of the myotoxic transcription factor DUX4. ...
OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is caused by abnormal de-repression of the myotoxic transcription factor DUX …
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E. Efthymiou S, et al. Biomolecules. 2023 Oct 24;13(11):1567. doi: 10.3390/biom13111567. Biomolecules. 2023. PMID: 38002249 Free PMC article.
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin relaxation, mostly via the contraction of the D4Z4 macrosatellite repeat array on chromosome 4q35. ...
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local …
A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD).
Varma A, Todinca MS, Eichinger K, Heininger S, Dilek N, Martens W, Tawil R, Statland J, Kissel JT, McDermott MP, Heatwole C. Varma A, et al. Muscle Nerve. 2024 Mar;69(3):362-367. doi: 10.1002/mus.28031. Epub 2024 Jan 8. Muscle Nerve. 2024. PMID: 38189531
INTRODUCTION/AIMS: In preparation for clinical trials, it is important to better understand how disease burden changes over time in facioscapulohumeral muscular dystrophy (FSHD) and to assess the capability of select metrics to detect these changes. ...
INTRODUCTION/AIMS: In preparation for clinical trials, it is important to better understand how disease burden changes over time in facio …
111 results