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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1986 1
1988 2
1989 5
1990 3
1991 7
1992 11
1993 15
1994 11
1995 45
1996 12
1997 16
1998 11
1999 15
2000 9
2001 12
2002 12
2003 16
2004 27
2005 23
2006 27
2007 31
2008 25
2009 47
2010 46
2011 40
2012 51
2013 48
2014 57
2015 66
2016 69
2017 55
2018 68
2019 62
2020 88
2021 8
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943 results
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Page 1
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.
BACKGROUND: Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. ...CONCLUSIONS: Key pathogenesis factors have been identifie …
BACKGROUND: Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogen …
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.
The diagnosis of FSHD requires therefore specific skills on both modern and less modern analytical protocols. Considering that clinical and molecular diagnosis of FSHD is challenging, it is not surprising that only few laboratories offer a comprehensive characteriza …
The diagnosis of FSHD requires therefore specific skills on both modern and less modern analytical protocols. Considering that clinic …
Therapeutic Strategies Targeting DUX4 in FSHD.
Le Gall L, Sidlauskaite E, Mariot V, Dumonceaux J. Le Gall L, et al. J Clin Med. 2020 Sep 7;9(9):2886. doi: 10.3390/jcm9092886. J Clin Med. 2020. PMID: 32906621 Free PMC article. Review.
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. ...Today there is no treatment available for FSHD patients and therapeutic strategies targeting DUX4 toxicity in skeletal muscle are b …
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. . …
Transcriptional and cytopathological hallmarks of FSHD in chronic DUX4-expressing mice.
Bosnakovski D, Shams AS, Yuan C, da Silva MT, Ener ET, Baumann CW, Lindsay AJ, Verma M, Asakura A, Lowe DA, Kyba M. Bosnakovski D, et al. J Clin Invest. 2020 May 1;130(5):2465-2477. doi: 10.1172/JCI133303. J Clin Invest. 2020. PMID: 32250341 Free PMC article.
FSHD is also a chronic disease that progresses slowly over decades. ...Strikingly, differential gene expression profiles of both whole muscle and, to a lesser extent, FAPs, showed significant overlap with transcriptional profiles of MRI-guided human FSHD muscle biop
FSHD is also a chronic disease that progresses slowly over decades. ...Strikingly, differential gene expression profiles of both whol
Are Antioxidants a Potential Therapy for FSHD? A Review of the Literature.
Denny AP, Heather AK. Denny AP, et al. Oxid Med Cell Longev. 2017;2017:7020295. doi: 10.1155/2017/7020295. Epub 2017 Jun 12. Oxid Med Cell Longev. 2017. PMID: 28690764 Free PMC article. Review.
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy affecting approximately 1 in 7500 individuals worldwide. ...This review summarises the current state of antioxidant use in the treatment of FSHD and discusses their potential avenue for therapeut …
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy affecting approximately 1 in 7500 individuals worldwide. ...Th …
DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation.
Sidlauskaite E, Le Gall L, Mariot V, Dumonceaux J. Sidlauskaite E, et al. J Pers Med. 2020 Jul 28;10(3):73. doi: 10.3390/jpm10030073. J Pers Med. 2020. PMID: 32731450 Free PMC article. Review.
Facioscapulohumeral dystrophy (FSHD) is the most frequent muscular disease in adults. FSHD is characterized by a weakness and atrophy of a specific set of muscles located in the face, the shoulder, and the upper arms. FSHD patients may present different genet …
Facioscapulohumeral dystrophy (FSHD) is the most frequent muscular disease in adults. FSHD is characterized by a weakness and …
MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.
Wang LH, Friedman SD, Shaw D, Snider L, Wong CJ, Budech CB, Poliachik SL, Gove NE, Lewis LM, Campbell AE, Lemmers RJFL, Maarel SM, Tapscott SJ, Tawil RN. Wang LH, et al. Hum Mol Genet. 2019 Feb 1;28(3):476-486. doi: 10.1093/hmg/ddy364. Hum Mol Genet. 2019. PMID: 30312408 Free PMC article.
Here, we performed MRIs of the lower extremities in 36 individuals with FSHD, followed by needle muscle biopsies in safely accessible muscles. ...In addition, DUX4 target gene expression was detected only in FSHD-affected muscles and not in control muscles. These re …
Here, we performed MRIs of the lower extremities in 36 individuals with FSHD, followed by needle muscle biopsies in safely accessible …
Current status and future prospect of FSHD region gene 1.
Hansda AK, Tiwari A, Dixit M. Hansda AK, et al. J Biosci. 2017 Jun;42(2):345-353. doi: 10.1007/s12038-017-9681-x. J Biosci. 2017. PMID: 28569257 Free article. Review.
FSHD region gene 1 (FRG1), as the name suggests, is the primary candidate gene for fascioscapulohumeral muscular dystrophy disease. It seemingly affects muscle physiology in normal individuals but in FSHD, where it is found to be highly upregulated, might be involve
FSHD region gene 1 (FRG1), as the name suggests, is the primary candidate gene for fascioscapulohumeral muscular dystrophy disease. I
Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD).
Hamel J, Johnson N, Tawil R, Martens WB, Dilek N, McDermott MP, Heatwole C. Hamel J, et al. Neurology. 2019 Sep 17;93(12):e1180-e1192. doi: 10.1212/WNL.0000000000008123. Epub 2019 Aug 13. Neurology. 2019. PMID: 31409737 Free PMC article.
CONCLUSIONS: Adults with FSHD experience a variety of symptoms that play an important role in their disease burden. These symptoms have a variable prevalence and importance in the FSHD population and are associated with disease duration, employment status, and pain …
CONCLUSIONS: Adults with FSHD experience a variety of symptoms that play an important role in their disease burden. These symptoms ha …
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) is due …
PURPOSE OF REVIEW: Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and adult pa …
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