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Items: 1 to 20 of 1461

1.

Strength training and aerobic exercise training for muscle disease.

Voet NB, van der Kooi EL, van Engelen BG, Geurts AC.

Cochrane Database Syst Rev. 2019 Dec 6;12:CD003907. doi: 10.1002/14651858.CD003907.pub5. Review.

PMID:
31808555
2.

The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies.

Bostock EL, O'Dowd DN, Payton CJ, Smith D, Orme P, Edwards BT, Morse CI.

Front Neurol. 2019 Nov 19;10:1216. doi: 10.3389/fneur.2019.01216. eCollection 2019.

3.

Facioscapulohumeral Muscular Dystrophies.

Wagner KR.

Continuum (Minneap Minn). 2019 Dec;25(6):1662-1681. doi: 10.1212/CON.0000000000000801.

PMID:
31794465
4.

Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.

Pagola-Lorz I, Vicente E, Ibáñez B, Torné L, Elizalde-Beiras I, Garcia-Solaesa V, García F, Delfrade J, Jericó I.

Orphanet J Rare Dis. 2019 Dec 2;14(1):276. doi: 10.1186/s13023-019-1227-x. Review.

5.

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression.

Resnick R, Wong CJ, Hamm DC, Bennett SR, Skene PJ, Hake SB, Henikoff S, van der Maarel SM, Tapscott SJ.

Cell Rep. 2019 Nov 12;29(7):1812-1820.e5. doi: 10.1016/j.celrep.2019.10.025.

6.

Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping.

Zheng Y, Kong L, Xu H, Lu Y, Zhao X, Yang Y, Yu G, Li P, Liang F, Jin H, Kong X.

Prenat Diagn. 2019 Nov 11. doi: 10.1002/pd.5607. [Epub ahead of print]

PMID:
31711258
7.

Early onset facioscapulohumeral muscular dystrophy - Long-term follow-up of a patient with total facial diplegia.

Rudnik-Schöneborn S, Huemer M, Weis J, Sauer E, Meng G.

Neuromuscul Disord. 2019 Dec;29(12):973-976. doi: 10.1016/j.nmd.2019.09.015. Epub 2019 Oct 1.

PMID:
31708336
8.

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.

Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM.

J Med Genet. 2019 Dec;56(12):828-837. doi: 10.1136/jmedgenet-2019-106402. Epub 2019 Nov 1.

PMID:
31676591
9.

Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging.

Monforte M, Laschena F, Ottaviani P, Bagnato MR, Pichiecchio A, Tasca G, Ricci E.

J Cachexia Sarcopenia Muscle. 2019 Dec;10(6):1258-1265. doi: 10.1002/jcsm.12473. Epub 2019 Oct 30.

10.

Functional Outcomes and Complications Following Scapulothoracic Arthrodesis in Patients with Facioscapulohumeral Dystrophy.

Eren İ, Erşen A, Birsel O, Atalar AC, Oflazer P, Demirhan M.

J Bone Joint Surg Am. 2019 Oct 25. doi: 10.2106/JBJS.19.00571. [Epub ahead of print]

PMID:
31658207
11.

[Inpatients with facioscapulohumeral muscular dystrophy in specialized institutions in Japan from 1999 to 2013-Clinical condition changes and causes of death].

Saito T, Kuru S, Takahashi T, Suzuki M, Ogata K.

Rinsho Shinkeigaku. 2019 Nov 8;59(11):716-722. doi: 10.5692/clinicalneurol.cn-001229. Epub 2019 Oct 26. Japanese.

PMID:
31656262
12.

DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD.

Shadle SC, Bennett SR, Wong CJ, Karreman NA, Campbell AE, van der Maarel SM, Bass BL, Tapscott SJ.

Hum Mol Genet. 2019 Oct 19. pii: ddz242. doi: 10.1093/hmg/ddz242. [Epub ahead of print]

PMID:
31630170
13.

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019.

Kinoshita J, Magdinier F, Padberg GW.

Neuromuscul Disord. 2019 Oct;29(10):811-817. doi: 10.1016/j.nmd.2019.08.015. Epub 2019 Sep 3. No abstract available.

PMID:
31604652
14.

The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

Strafella C, Caputo V, Galota RM, Campoli G, Bax C, Colantoni L, Minozzi G, Orsini C, Politano L, Tasca G, Novelli G, Ricci E, Giardina E, Cascella R.

Hum Mol Genet. 2019 Oct 10. pii: ddz239. doi: 10.1093/hmg/ddz239. [Epub ahead of print]

PMID:
31600781
15.

Measurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy - A systematic review and evidence synthesis.

de Valle K, McGinley JL, Woodcock I, Ryan MM, Dobson F.

Neuromuscul Disord. 2019 Nov;29(11):881-894. doi: 10.1016/j.nmd.2019.09.003. Epub 2019 Sep 6. Review.

PMID:
31590908
16.

The development of myasthenia gravis in a patient with facioscapulohumeral muscular dystrophy: case report and literature review.

Nauman F, Hussain MFA, Burakgazi AZ.

Neurol Int. 2019 Jun 19;11(3):8191. doi: 10.4081/ni.2019.8191. eCollection 2019 Sep 18.

17.

Respiratory muscle weakness in facioscapulohumeral muscular dystrophy.

Henke C, Spiesshoefer J, Kabitz HJ, Herkenrath S, Randerath W, Brix T, Görlich D, Young P, Boentert M.

Muscle Nerve. 2019 Dec;60(6):679-686. doi: 10.1002/mus.26717. Epub 2019 Oct 23.

PMID:
31566774
18.

A novel P300 inhibitor reverses DUX4-mediated global histone H3 hyperacetylation, target gene expression, and cell death.

Bosnakovski D, da Silva MT, Sunny ST, Ener ET, Toso EA, Yuan C, Cui Z, Walters MA, Jadhav A, Kyba M.

Sci Adv. 2019 Sep 11;5(9):eaaw7781. doi: 10.1126/sciadv.aaw7781. eCollection 2019 Sep.

19.

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.

van der Wal E, den Hamer B, van der Vliet PJ, Tok M, Brands T, Eussen B, Lemmers RJLF, Freund C, de Klein A, Buijsen RAM, van Roon-Mom WMC, Tawil R, van der Maarel SM, de Greef JC.

Stem Cell Res. 2019 Oct;40:101560. doi: 10.1016/j.scr.2019.101560. Epub 2019 Aug 28.

20.

Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).

Dai Y, Li P, Wang Z, Liang F, Yang F, Fang L, Huang Y, Huang S, Zhou J, Wang D, Cui L, Wang K.

J Med Genet. 2019 Sep 10. pii: jmedgenet-2019-106078. doi: 10.1136/jmedgenet-2019-106078. [Epub ahead of print]

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