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Did you mean fh or facioscapulohumeral (20,379 results)?
DUX4 Role in Normal Physiology and in FSHD Muscular Dystrophy.
Mocciaro E, Runfola V, Ghezzi P, Pannese M, Gabellini D. Mocciaro E, et al. Cells. 2021 Nov 26;10(12):3322. doi: 10.3390/cells10123322. Cells. 2021. PMID: 34943834 Free PMC article. Review.
While DUX4 is epigenetically silenced in most somatic tissues of healthy humans, its aberrant reactivation is associated with several diseases, including cancer, viral infection and facioscapulohumeral muscular dystrophy (FSHD). DUX4 is also translocated, giving ris …
While DUX4 is epigenetically silenced in most somatic tissues of healthy humans, its aberrant reactivation is associated with several diseas …
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. RECENT FINDINGS: FSHD has a wide range 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 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.
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 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.
Fecek C, Emmady PD. Fecek C, et al. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32644454 Free Books & Documents.
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic illness inherited in an autosomal dominant fashion that affects skeletal muscle tissue in affected individuals. ...Beyond musculature, 50% of FSHD patients also present with subclinical high-frequency
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic illness inherited in an autosomal dominant fashion that affects ske
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 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. ...The diagnosis of FSHD requires therefore specific skills on both modern and less modern analytical pro
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face
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. ...The distinctive phenotype of FSHD occurs secondary to two different genetic mechanisms. FSHD type 1 (FSHD1) …
PURPOSE OF REVIEW: Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and a …
Current Therapeutic Approaches in FSHD.
Wang LH, Tawil R. Wang LH, et al. J Neuromuscul Dis. 2021;8(3):441-451. doi: 10.3233/JND-200554. J Neuromuscul Dis. 2021. PMID: 33579868 Free PMC article. Review.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. ...FSHD is the result of a toxic gain-of-function from de-repression of the DUX4 gene, a gene not normally expressed in skeletal muscle. ...
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. ...FSHD is the result of
1,944 results