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2003 2
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48 results

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Page 1
Muscular Dystrophies.
Carter JC, Sheehan DW, Prochoroff A, Birnkrant DJ. Carter JC, et al. Clin Chest Med. 2018 Jun;39(2):377-389. doi: 10.1016/j.ccm.2018.01.004. Clin Chest Med. 2018. PMID: 29779596 Review.
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. ...The authors present an overview of the muscular dystrophies, including their basic features, common clinical phenotype
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pul
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 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 …
Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.
Jia FF, Drew AP, Nicholson GA, Corbett A, Kumar KR. Jia FF, et al. Neuromuscul Disord. 2021 Nov;31(11):1101-1112. doi: 10.1016/j.nmd.2021.09.010. Epub 2021 Oct 2. Neuromuscul Disord. 2021. PMID: 34711481 Review.
Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disease of the skeletal muscle with a characteristic pattern of weakness. Facioscapulohumeral muscular dystrophy type 2 (FSHD2) accounts for approximately 5% of all
Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disease of the skeletal muscle with a characteristic
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. ...
Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided
Facioscapulohumeral Muscular Dystrophy.
Statland JM, Tawil R. Statland JM, et al. Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1916-1931. doi: 10.1212/CON.0000000000000399. Continuum (Minneap Minn). 2016. PMID: 27922500 Free PMC article. Review.
PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). RECENT FINDINGS: FSHD comprises two genetically distinct types that converge on a common …
PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapuloh
Facioscapulohumeral Muscular Dystrophies.
Wagner KR. Wagner KR. Continuum (Minneap Minn). 2019 Dec;25(6):1662-1681. doi: 10.1212/CON.0000000000000801. Continuum (Minneap Minn). 2019. PMID: 31794465 Review.
PURPOSE OF REVIEW: Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and adult patients. ...FSHD type 1 (FSHD1) is due to a deletion on chromosome 4q, leading to hypomethylation and derepressio …
PURPOSE OF REVIEW: Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting …
Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy.
Cohen J, DeSimone A, Lek M, Lek A. Cohen J, et al. Trends Mol Med. 2021 Feb;27(2):123-137. doi: 10.1016/j.molmed.2020.09.008. Epub 2020 Oct 19. Trends Mol Med. 2021. PMID: 33092966 Free PMC article. Review.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting roughly one in 8000 individuals. ...
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affe
The muscular dystrophies.
Wicklund MP. Wicklund MP. Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1535-70. doi: 10.1212/01.CON.0000440659.41675.8b. Continuum (Minneap Minn). 2013. PMID: 24305447 Free PMC article. Review.
RECENT FINDINGS: Some important recent advancements include (1) a much greater understanding of the pathogenetic pathways underlying facioscapulohumeral muscular dystrophy and myotonic dystrophy type 1; (2) the publication of diagnostic and trea …
RECENT FINDINGS: Some important recent advancements include (1) a much greater understanding of the pathogenetic pathways underlying faci
A pediatric case report and literature review of facioscapulohumeral muscular dystrophy type1.
Xiao T, Yang H, Gan S, Wu L. Xiao T, et al. Medicine (Baltimore). 2021 Nov 24;100(47):e27907. doi: 10.1097/MD.0000000000027907. Medicine (Baltimore). 2021. PMID: 34964760 Free PMC article. Review.
RATIONALE: Early-onset facioscapulohumeral muscular dystrophy (FSHD) is defined as facial weakness before the age of 5 and shoulder weakness before the age of 10. Early-onset facioscapulohumeral muscular dystrophy is relatively rare in th …
RATIONALE: Early-onset facioscapulohumeral muscular dystrophy (FSHD) is defined as facial weakness before the age of 5 …
Facioscapulohumeral muscular dystrophy.
van der Maarel SM, Frants RR, Padberg GW. van der Maarel SM, et al. Biochim Biophys Acta. 2007 Feb;1772(2):186-94. doi: 10.1016/j.bbadis.2006.05.009. Epub 2006 Jun 6. Biochim Biophys Acta. 2007. PMID: 16837171 Free article. Review.
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. ...
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the
48 results