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Year Number of Results
1975 1
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1989 2
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1991 2
1992 3
1993 4
1994 3
1995 15
1996 4
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1999 4
2000 3
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2005 3
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2007 11
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2024 10

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335 results

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Page 1
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 diag …
PURPOSE OF REVIEW: This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumera …
Epigenetics of neuromuscular disorders.
Coppedè F. Coppedè F. Epigenomics. 2020 Dec;12(23):2125-2139. doi: 10.2217/epi-2020-0282. Epub 2020 Nov 6. Epigenomics. 2020. PMID: 33155830 Review.
The aim of this article is to review the major epigenetic findings in motor neuron diseases and major hereditary muscular dystrophies. DNA methylation changes are observed in both hereditary and sporadic forms, and combining DNA methylation analysis with mutational screeni …
The aim of this article is to review the major epigenetic findings in motor neuron diseases and major hereditary muscular dystrophies. DNA m …
Facioscapulohumeral muscular dystrophy.
Padberg GW, van Engelen BG. Padberg GW, et al. Curr Opin Neurol. 2009 Oct;22(5):539-42. doi: 10.1097/WCO.0b013e328330a572. Curr Opin Neurol. 2009. PMID: 19724227 Review.
PURPOSE OF REVIEW: Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front. RECENT FINDINGS: The present brief review high …
PURPOSE OF REVIEW: Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattere …
Genotype-phenotype correlations in FSHD.
Zernov N, Skoblov M. Zernov N, et al. BMC Med Genomics. 2019 Mar 13;12(Suppl 2):43. doi: 10.1186/s12920-019-0488-5. BMC Med Genomics. 2019. PMID: 30871534 Free PMC article. Review.
There are key genetic, epigenetic and gender factors that influence the expressivity and penetrance of the disease. Using only one of these factors allows just a rough prediction of the course of the disease, which indicates the combined effect of all of the factors on the …
There are key genetic, epigenetic and gender factors that influence the expressivity and penetrance of the disease. Using only one of these …
Exercise Intolerance in Facioscapulohumeral Muscular Dystrophy.
Vera KA, McConville M, Glazos A, Stokes W, Kyba M, Keller-Ross M. Vera KA, et al. Med Sci Sports Exerc. 2022 Jun 1;54(6):887-895. doi: 10.1249/MSS.0000000000002882. Epub 2022 Feb 21. Med Sci Sports Exerc. 2022. PMID: 35195100 Free PMC article.
PURPOSE: Determine 1) if adults with facioscapulohumeral muscular dystrophy (FSHD) exhibit exercise intolerance and 2) potential contributing mechanisms to exercise intolerance, specific to FSHD. ...Among FSHD participants, VO2peak was associated with self-re …
PURPOSE: Determine 1) if adults with facioscapulohumeral muscular dystrophy (FSHD) exhibit exercise intolerance and 2) …
Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy.
Mul K, van den Boogaard ML, van der Maarel SM, van Engelen BG. Mul K, et al. Curr Opin Neurol. 2016 Oct;29(5):606-13. doi: 10.1097/WCO.0000000000000360. Curr Opin Neurol. 2016. PMID: 27389814 Review.
PURPOSE OF REVIEW: This review gives an overview of the currently known key clinical and (epi)genetic aspects of facioscapulohumeral muscular dystrophy (FSHD) and provides perspectives to facilitate future research. ...
PURPOSE OF REVIEW: This review gives an overview of the currently known key clinical and (epi)genetic aspects of facioscapulohumeral …
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. ...The need to develop personalized therapeutic strategies is also crucial acc …
PURPOSE OF REVIEW: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies, involving over 8 …
Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.
Banerji CRS, Zammit PS. Banerji CRS, et al. EMBO Mol Med. 2021 Aug 9;13(8):e13695. doi: 10.15252/emmm.202013695. Epub 2021 Jun 21. EMBO Mol Med. 2021. PMID: 34151531 Free PMC article. Review.
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal muscle weakness and wasting. ...A reliable biomarker for FSHD is suppression of a target gene score of PAX7, a master regulator of myogenesis. However, it is unclear …
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal muscle weakness and wasting. ... …
Characterizing the face in facioscapulohumeral muscular dystrophy.
Loonen TGJ, Horlings CGC, Vincenten SCC, Beurskens CHG, Knuijt S, Padberg GWAM, Statland JM, Voermans NC, Maal TJJ, van Engelen BGM, Mul K. Loonen TGJ, et al. J Neurol. 2021 Apr;268(4):1342-1350. doi: 10.1007/s00415-020-10281-z. Epub 2020 Oct 28. J Neurol. 2021. PMID: 33113021 Free PMC article.
Next, videos were semi-quantitatively assessed using a newly developed 4-point facial weakness score (FWS). This score was evaluated and correlated to other FSHD disease characteristics. RESULTS: Patients had lower scores on the total FWS than controls (mean …
Next, videos were semi-quantitatively assessed using a newly developed 4-point facial weakness score (FWS). This score was eva …
Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.
Qiu L, Ye Z, Lin L, Wang L, Lin X, He J, Lin F, Xu G, Cai N, Jin M, Chen H, Lin M, Wang N, Wang Z. Qiu L, et al. J Med Genet. 2020 Nov;57(11):777-785. doi: 10.1136/jmedgenet-2019-106638. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170003
METHODS: This was a prospective, hospital-based, case-control, observational study of 35 participants with FSHD with somatic mosaicism recruited over 10 years, with 17 penetrant patients and 18 non-penetrant mutation carriers. ...RESULTS: Mosaic participants with FSHD vari …
METHODS: This was a prospective, hospital-based, case-control, observational study of 35 participants with FSHD with somatic mosaicis …
335 results