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Best matches for fshd or facioscapulohumeral:

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Items: 1 to 20 of 1298

1.

A Patient-derived iPSC Model Revealed Oxidative Stress Increases Facioscapulohumeral Muscular Dystrophy-causative DUX4.

Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H.

Hum Mol Genet. 2018 Aug 9. doi: 10.1093/hmg/ddy293. [Epub ahead of print]

PMID:
30107443
2.

MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders.

Lassche S, Janssen BH, IJzermans T, Fütterer JJ, Voermans NC, Heerschap A, Küsters B, Mann RM, van Engelen BG.

J Neuromuscul Dis. 2018;5(3):315-319. doi: 10.3233/JND-180318.

3.

Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage.

Hiramuki Y, Tapscott SJ.

Skelet Muscle. 2018 Aug 2;8(1):24. doi: 10.1186/s13395-018-0172-z.

4.

Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.

Do TN, Street N, Donnelly J, Adams MM, Cunniff C, Fox DJ, Weinert RO, Oleszek J, Romitti PA, Westfield CP, Bolen J; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

Birth Defects Res. 2018 Aug 2. doi: 10.1002/bdr2.1371. [Epub ahead of print]

PMID:
30070776
5.

Atypical presentation of Coats' Syndrome in facioscapulohumeral dystrophy - Reflecting the variation in phenotypic manifestations.

Akshikar R, Feng R, Gill K, Chehade L, Hughes E.

Am J Ophthalmol Case Rep. 2018 Apr 21;11:17-18. doi: 10.1016/j.ajoc.2018.04.009. eCollection 2018 Sep.

6.

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

Renard D, Taieb G, Garibaldi M, Maues De Paula A, Bernard R, Lagha N, Cristofari G, Vovan C, Chaix C, Lévy N, Khau Van Kien P, Sacconi S.

Am J Med Genet A. 2018 Jul 28. doi: 10.1002/ajmg.a.38843. [Epub ahead of print]

PMID:
30055030
7.

Exercise in muscle disorders: what is our current state?

Preisler N, Orngreen MC.

Curr Opin Neurol. 2018 Jul 20. doi: 10.1097/WCO.0000000000000597. [Epub ahead of print]

PMID:
30036194
8.

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.

Wohlgemuth M, Lemmers RJ, Jonker M, van der Kooi E, Horlings CG, van Engelen BG, van der Maarel SM, Padberg GW, Voermans NC.

Neurology. 2018 Jul 31;91(5):e444-e454. doi: 10.1212/WNL.0000000000005915. Epub 2018 Jul 11.

PMID:
29997197
9.

Prevalence of muscular dystrophy in patients with muscular disorders in Tehran, Iran.

Tehrani KHN, Hajiloo M, Asadollahi E, Lagini FP.

Eur J Transl Myol. 2018 May 18;28(2):7380. doi: 10.4081/ejtm.2018.7385. eCollection 2018 Apr 24.

10.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

PMID:
29980640
11.

Long-term results of scapulothoracic arthrodesis with multiple cable method for facioscapulohumeral dystrophy.

Erşen A, Atalar AC, Bayram S, Demirel M, Tunalı O, Demirhan M.

Bone Joint J. 2018 Jul;100-B(7):953-956. doi: 10.1302/0301-620X.100B7.BJJ-2017-1438.R1.

PMID:
29954200
12.

Novel key roles for Structural maintenance of chromosome flexible domain containing 1 (Smchd1) during preimplantation mouse development.

Midic U, Vincent KA, Wang K, Lokken A, Severance AL, Ralston A, Knott JG, Latham KE.

Mol Reprod Dev. 2018 Jun 13. doi: 10.1002/mrd.23001. [Epub ahead of print]

PMID:
29900695
13.

Protein kinase A activation inhibits DUX4 gene expression in myotubes from patients with facioscapulohumeral muscular dystrophy.

Cruz JM, Hupper N, Wilson LS, Concannon JB, Wang Y, Oberhauser B, Patora-Komisarska K, Zhang Y, Glass DJ, Trendelenburg AU, Clarke BA.

J Biol Chem. 2018 Jul 27;293(30):11837-11849. doi: 10.1074/jbc.RA118.002633. Epub 2018 Jun 13.

PMID:
29899111
14.

Isoprostanes as markers for muscle aging in older athletes.

Vinel C, Pereira O, Dupuy A, Bertrand-Michel J, Laoudj-Chenivesse D, Rolland Y, Rivière D, Valet P, Dray C, Pillard F.

Biochim Open. 2017 Dec 15;6:1-8. doi: 10.1016/j.biopen.2017.12.001. eCollection 2018 Jun.

15.

Muscular Dystrophies.

Carter JC, Sheehan DW, Prochoroff A, Birnkrant DJ.

Clin Chest Med. 2018 Jun;39(2):377-389. doi: 10.1016/j.ccm.2018.01.004. Review.

PMID:
29779596
16.

Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy.

Himeda CL, Jones TI, Virbasius CM, Zhu LJ, Green MR, Jones PL.

Mol Ther. 2018 Jul 5;26(7):1797-1807. doi: 10.1016/j.ymthe.2018.04.019. Epub 2018 Apr 26.

17.

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy.

Goselink RJM, van Kernebeek CR, Mul K, Lemmers RJLF, van der Maarel SM, Brouwer OF, Voermans N, Padberg GW, Erasmus CE, van Engelen BGM.

Eur J Paediatr Neurol. 2018 May 3. pii: S1090-3798(18)30019-9. doi: 10.1016/j.ejpn.2018.04.013. [Epub ahead of print]

PMID:
29753614
18.

Targeting the Polyadenylation Signal of Pre-mRNA: A New Gene Silencing Approach for Facioscapulohumeral Dystrophy.

Marsollier AC, Joubert R, Mariot V, Dumonceaux J.

Int J Mol Sci. 2018 May 3;19(5). pii: E1347. doi: 10.3390/ijms19051347. Review.

19.

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM.

J Biol Chem. 2018 Jun 22;293(25):9841-9853. doi: 10.1074/jbc.RA118.003104. Epub 2018 May 10.

PMID:
29748383
20.

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.

Lim JW, Wong CJ, Yao Z, Tawil R, van der Maarel SM, Miller DG, Tapscott SJ, Filippova GN.

Hum Mol Genet. 2018 May 8. doi: 10.1093/hmg/ddy173. [Epub ahead of print]

PMID:
29741619

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