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Page 1
Did you mean fh or facioscapulohumeral (22,243 results)?
Facioscapulohumeral Muscular Dystrophy.
Mul K. Mul K. Continuum (Minneap Minn). 2022 Dec 1;28(6):1735-1751. doi: 10.1212/CON.0000000000001155. Continuum (Minneap Minn). 2022. PMID: 36537978 Review.
PURPOSE OF REVIEW: This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development. ...SUMMARY: The cornerstones of the diagnosis o …
PURPOSE OF REVIEW: This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumera …
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 …
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy (FSHD) have revealed that FSHD result …
Late-onset myopathies.
Salort-Campana E, Attarian S. Salort-Campana E, et al. Curr Opin Neurol. 2024 Oct 1;37(5):523-535. doi: 10.1097/WCO.0000000000001298. Epub 2024 Jul 16. Curr Opin Neurol. 2024. PMID: 39017649 Review.
RECENT FINDINGS: Although late-onset myopathies (LOM) are expected to be predominantly acquired myopathies, some common genetic myopathies, such as facioscapulohumeral muscular dystrophy (FSHD), can present late in life, usually with an atypical presentation. ...SUM …
RECENT FINDINGS: Although late-onset myopathies (LOM) are expected to be predominantly acquired myopathies, some common genetic myopathies, …
Facioscapulohumeral Dystrophy.
Wang LH, Tawil R. Wang LH, et al. Curr Neurol Neurosci Rep. 2016 Jul;16(7):66. doi: 10.1007/s11910-016-0667-0. Curr Neurol Neurosci Rep. 2016. PMID: 27215221 Review.
Facioscapulohumeral muscular dystrophy (FSHD) is a clinically recognizable and relatively common muscular dystrophy. ...
Facioscapulohumeral muscular dystrophy (FSHD) is a clinically recognizable and relatively common muscular dystrophy. ...
Facioscapulohumeral muscular dystrophy.
Tawil R. Tawil R. Handb Clin Neurol. 2018;148:541-548. doi: 10.1016/B978-0-444-64076-5.00035-1. Handb Clin Neurol. 2018. PMID: 29478599 Review.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy with a distinctive pattern of skeletal muscle weakness and a wide spectrum of disease severity. ...The recent identification of aberrant activation of DUX4 transcript …
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy with a distinctive pattern …
Facioscapulohumeral muscular dystrophy.
Statland J, Tawil R. Statland J, et al. Neurol Clin. 2014 Aug;32(3):721-8, ix. doi: 10.1016/j.ncl.2014.04.003. Epub 2014 May 15. Neurol Clin. 2014. PMID: 25037087 Free PMC article. Review.
Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided into types 1 and 2 based on genetic mutation. ...Nevertheless, both types share a common downstream mechanism, making it possible for future disease-directed th …
Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided into types 1 and 2 b …
Facioscapulohumeral dystrophy.
Pandya S, King WM, Tawil R. Pandya S, et al. Phys Ther. 2008 Jan;88(1):105-13. doi: 10.2522/ptj.20070104. Epub 2007 Nov 6. Phys Ther. 2008. PMID: 17986494 Review.
Facioscapulohumeral dystrophy (FSHD) is the third most common inherited muscular dystrophy after Duchenne dystrophy and myotonic dystrophy. ...The purposes of this article are to increase awareness of FSHD among clinicians; to provide an update regarding the …
Facioscapulohumeral dystrophy (FSHD) is the third most common inherited muscular dystrophy after Duchenne dystrophy and myoton …
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Zampatti S, Colantoni L, Strafella C, Galota RM, Caputo V, Campoli G, Pagliaroli G, Carboni S, Mela J, Peconi C, Gambardella S, Cascella R, Giardina E. Zampatti S, et al. Neurogenetics. 2019 May;20(2):57-64. doi: 10.1007/s10048-019-00575-4. Epub 2019 Mar 25. Neurogenetics. 2019. PMID: 30911870 Review.
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face, shoulder, and upper arms. ...Considering that clinical and molecular diagnosis of FSHD is challenging, it is not surprising that on …
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face …
Facioscapulohumeral Muscular Dystrophy.
DeSimone AM, Pakula A, Lek A, Emerson CP Jr. DeSimone AM, et al. Compr Physiol. 2017 Sep 12;7(4):1229-1279. doi: 10.1002/cphy.c160039. Compr Physiol. 2017. PMID: 28915324 Review.
While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex genetic and epigenetic etiology that has only recently been well described. ...In this review, we describe recent advances in understanding the pathophysiolo …
While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex genetic and epige …
Facioscapulohumeral dystrophy.
Kissel JT. Kissel JT. Semin Neurol. 1999;19(1):35-43. doi: 10.1055/s-2008-1040824. Semin Neurol. 1999. PMID: 10711987 Review.
Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited neuromuscular disorders, with an estimated prevalence of 1:20,000. ...Probes from this region detect an EcoR1 "short fragment" that cosegregates with FSHD in familial cases and appears d …
Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited neuromuscular disorders, with an estimated prevalence …
2,062 results