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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 73
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925 results
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Page 1
DUX4 transcript knockdown with antisense 2'-O-methoxyethyl gapmers for the treatment of facioscapulohumeral muscular dystrophy.
Lim KRQ, Bittel A, Maruyama R, Echigoya Y, Nguyen Q, Huang Y, Dzierlega K, Zhang A, Chen YW, Yokota T. Lim KRQ, et al. Mol Ther. 2020 Oct 14:S1525-0016(20)30544-X. doi: 10.1016/j.ymthe.2020.10.010. Online ahead of print. Mol Ther. 2020. PMID: 33068777
FSHD is currently incurable. We propose to develop a therapy for FSHD using antisense 2'-O-methoxyethyl (2'-MOE) gapmers, to knock down DUX4 mRNA expression. ...This work facilitates the development of a promising candidate therapy for FSHD, and lays down the
FSHD is currently incurable. We propose to develop a therapy for FSHD using antisense 2'-O-methoxyethyl (2'-MOE) gapmers, to k
Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients.
Signorelli M, Mason AG, Mul K, Evangelista T, Mei H, Voermans N, Tapscott SJ, Tsonaka R, van Engelen BGM, van der Maarel SM, Spitali P. Signorelli M, et al. Sci Rep. 2020 Oct 16;10(1):17547. doi: 10.1038/s41598-020-74687-5. Sci Rep. 2020. PMID: 33067535 Free PMC article.
In this study we employed RNA-seq to examine gene expression in PAXgene tubes obtained from two independent cohorts of FSHD patients. ...These improvements in patient classification hold the potential to enrich the FSHD clinical trial toolbox....
In this study we employed RNA-seq to examine gene expression in PAXgene tubes obtained from two independent cohorts of FSHD patients. …
Quantitative 1H and 23Na muscle MRI in Facioscapulohumeral muscular dystrophy patients.
Gerhalter T, Marty B, Gast LV, Porzelt K, Heiss R, Uder M, Schwab S, Carlier PG, Nagel AM, Türk M. Gerhalter T, et al. J Neurol. 2020 Oct 12. doi: 10.1007/s00415-020-10254-2. Online ahead of print. J Neurol. 2020. PMID: 33047224
OBJECTIVE: Our aim was to assess the role of quantitative (1)H and (23)Na MRI methods in providing imaging biomarkers of disease activity and severity in patients with Facioscapulohumeral muscular dystrophy (FSHD). ...In addition, the FSHD patients underwent muscle …
OBJECTIVE: Our aim was to assess the role of quantitative (1)H and (23)Na MRI methods in providing imaging biomarkers of disease activity an …
Clinical impact of hypothalamic-pituitary disorders after conformal radiation therapy for pediatric low-grade glioma or ependymoma.
van Iersel L, van Santen HM, Potter B, Li Z, Conklin HM, Zhang H, Chemaitilly W, Merchant TE. van Iersel L, et al. Pediatr Blood Cancer. 2020 Oct 10:e28723. doi: 10.1002/pbc.28723. Online ahead of print. Pediatr Blood Cancer. 2020. PMID: 33037871
RESULTS: Prevalence was 37.2% for growth hormone deficiency (GHD), 17.7% for gonadotropin deficiency (LH/FSHD), 14.9% for thyroid-stimulating hormone deficiency (TSHD), 10.3% for adrenocorticotropic hormone deficiency (ACTHD), and 12.6% for central precocious puberty (CPP) …
RESULTS: Prevalence was 37.2% for growth hormone deficiency (GHD), 17.7% for gonadotropin deficiency (LH/FSHD), 14.9% for thyroid-sti …
Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.
Bouwman LF, den Hamer B, Verveer EP, Lerink LJS, Krom YD, van der Maarel SM, de Greef JC. Bouwman LF, et al. Skelet Muscle. 2020 Oct 1;10(1):27. doi: 10.1186/s13395-020-00247-0. Skelet Muscle. 2020. PMID: 33004076 Free PMC article.
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4 in skeletal muscle cells. Apart from SMCHD1, DNMT3B was recently identified as a disease gene and disease modifier in …
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcr …
Phenotypic diversity in an international Cure VCP Disease registry.
Ikenaga C, Findlay AR, Seiffert M, Peck A, Peck N, Johnson NE, Statland JM, Weihl CC. Ikenaga C, et al. Orphanet J Rare Dis. 2020 Sep 29;15(1):267. doi: 10.1186/s13023-020-01551-0. Orphanet J Rare Dis. 2020. PMID: 32993728 Free PMC article.
Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1).
Frezza E, Fuccillo E, Petrucci A, Greco G, Nucera G, Bruno E, Giardina E, Tupler R, Di Mauro R, Di Girolamo S, Massa R. Frezza E, et al. Otol Neurotol. 2020 Sep 24. doi: 10.1097/MAO.0000000000002877. Online ahead of print. Otol Neurotol. 2020. PMID: 32976345
RESULTS: All FSHD1 patients showed significantly reduced DPOAEs and TEOAEs, bilaterally and at all frequencies, even when considering only subjects with a normal PTA or a mild muscular involvement (FSHD score ≤ 2). No correlation between OAEs and FSHD clinical score …
RESULTS: All FSHD1 patients showed significantly reduced DPOAEs and TEOAEs, bilaterally and at all frequencies, even when considering only s …
Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy.
Lassche S, Voermans NC, Schreuder T, Heerschap A, Küsters B, Ottenheijm CA, Hopman MT, van Engelen BG. Lassche S, et al. Muscle Nerve. 2020 Sep 22. doi: 10.1002/mus.27074. Online ahead of print. Muscle Nerve. 2020. PMID: 32959362
RESULTS: Specific force was reduced by ~33% in all FSHD patients independent of disease severity. Quadriceps force-frequency relationship shifted to the right in severe FSHD compared to controls. ...CONCLUSIONS: Reduced quadriceps specific force is present in all …
RESULTS: Specific force was reduced by ~33% in all FSHD patients independent of disease severity. Quadriceps force-frequency relation …
A team approach in the diagnosis and management of facioscapulohumeral muscular dystrophy: a case report.
Parisien RL, Zhang J, Tannoury T, Stein A, Li X. Parisien RL, et al. JSES Int. 2020 Jun 5;4(3):485-490. doi: 10.1016/j.jseint.2020.04.022. eCollection 2020 Sep. JSES Int. 2020. PMID: 32939472 Free PMC article. No abstract available.
Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD.
Lassche S, Küsters B, Heerschap A, Schyns MVP, Ottenheijm CAC, Voermans NC, van Engelen BGM. Lassche S, et al. J Neuromuscul Dis. 2020;7(4):495-504. doi: 10.3233/JND-200543. J Neuromuscul Dis. 2020. PMID: 32925090
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