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Items: 1 to 20 of 794

1.

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of FSHD.

Jagannathan S, Ogata Y, Gafken PR, Tapscott SJ, Bradley RK.

Elife. 2019 Jan 15;8. pii: e41740. doi: 10.7554/eLife.41740. [Epub ahead of print]

2.

Updating the Clinical Picture of Facioscapulohumeral Muscular Dystrophy: Ramifications for Drug Development With Potential Solutions.

Huml RA, Uspenskaya-Cadoz O, Dawson J, Slifer Z.

Ther Innov Regul Sci. 2019 Jan 10:2168479018820313. doi: 10.1177/2168479018820313. [Epub ahead of print]

PMID:
30630369
3.

Early onset as a marker for disease severity in FSHD.

Goselink RJM, Mul K, van Kernebeek CR, Lemmers RJLF, van der Maarel SM, Schreuder THA, Erasmus CE, Padberg GW, Statland JM, Voermans NC, van Engelen BGM.

Neurology. 2018 Dec 19. pii: 10.1212/WNL.0000000000006819. doi: 10.1212/WNL.0000000000006819. [Epub ahead of print]

PMID:
30568007
4.

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.

Cascella R, Strafella C, Caputo V, Galota RM, Errichiello V, Scutifero M, Petillo R, Marella GL, Arcangeli M, Colantoni L, Zampatti S, Ricci E, Deidda G, Politano L, Giardina E.

Front Neurol. 2018 Nov 28;9:1027. doi: 10.3389/fneur.2018.01027. eCollection 2018.

5.

Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies.

Xia G, Terada N, Ashizawa T.

Curr Stem Cell Rep. 2018;4(4):299-309. doi: 10.1007/s40778-018-0145-5. Epub 2018 Oct 4. Review.

6.

Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA.

Lee JK, Bosnakovski D, Toso EA, Dinh T, Banerjee S, Bohl TE, Shi K, Orellana K, Kyba M, Aihara H.

Cell Rep. 2018 Dec 11;25(11):2955-2962.e3. doi: 10.1016/j.celrep.2018.11.060.

7.

Acupuncture improves the facial muscular function in a case of facioscapulohumeral muscular dystrophy.

Liu Y, Xiao F, Liang X.

J Acupunct Meridian Stud. 2018 Nov 30. pii: S2005-2901(16)30251-5. doi: 10.1016/j.jams.2018.11.001. [Epub ahead of print]

8.

The French National Registry of patients with Facioscapulohumeral muscular dystrophy.

Guien C, Blandin G, Lahaut P, Sanson B, Nehal K, Rabarimeriarijaona S, Bernard R, Lévy N, Sacconi S, Béroud C.

Orphanet J Rare Dis. 2018 Dec 4;13(1):218. doi: 10.1186/s13023-018-0960-x.

9.

The Trithorax protein Ash1L promotes myoblast fusion by activating Cdon expression.

Castiglioni I, Caccia R, Garcia-Manteiga JM, Ferri G, Caretti G, Molineris I, Nishioka K, Gabellini D.

Nat Commun. 2018 Nov 28;9(1):5026. doi: 10.1038/s41467-018-07313-8.

10.

Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy.

Banerji CRS, Panamarova M, Pruller J, Figeac N, Hebaishi H, Fidanis E, Saxena A, Contet J, Sacconi S, Severini S, Zammit PS.

Hum Mol Genet. 2018 Dec 6. doi: 10.1093/hmg/ddy405. [Epub ahead of print]

PMID:
30462217
11.

Low level DUX4 expression disrupts myogenesis through deregulation of myogenic gene expression.

Bosnakovski D, Gearhart MD, Toso EA, Ener ET, Choi SH, Kyba M.

Sci Rep. 2018 Nov 16;8(1):16957. doi: 10.1038/s41598-018-35150-8.

12.

Single-cell RNA-sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.

Heuvel AVD, Mahfouz A, Kloet SL, Balog J, Engelen BGMV, Tawil R, Tapscott SJ, Maarel SMV.

Hum Mol Genet. 2018 Nov 16. doi: 10.1093/hmg/ddy400. [Epub ahead of print]

PMID:
30445587
13.

AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD.

Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ.

JCI Insight. 2018 Nov 15;3(22). pii: 123538. doi: 10.1172/jci.insight.123538. [Epub ahead of print]

14.

[Non-verbal communication in patients with DM1 and FSHD].

Michon CC, Miljkovitch R, Cyrulnik B.

Med Sci (Paris). 2018 Nov;34 Hors série n°2:9-12. doi: 10.1051/medsci/201834s203. Epub 2018 Nov 12. French. No abstract available.

PMID:
30418137
15.

Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.

Hamel J, Tawil R.

Neurotherapeutics. 2018 Oct;15(4):863-871. doi: 10.1007/s13311-018-00675-3. Review.

PMID:
30361930
16.

Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study.

Abel EEDH, Cup EHC, Lanser A, Leclercq WKG, Raaphorst J, Padberg GW, Satink T, Voermans NC.

Neuromuscul Disord. 2018 Nov;28(11):938-946. doi: 10.1016/j.nmd.2018.09.003. Epub 2018 Sep 19.

PMID:
30342904
17.

A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy.

Cakmak ÖÖ, Eren I, Aslanger A, Günerbüyük C, Kayserili H, Oflazer P, Sar C, Demirhan M, Özdemir YG.

Ideggyogy Sz. 2018 Sep 30;71(9-10):337-342. doi: 10.18071/isz.71.0337.

PMID:
30335266
18.

Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552).

Ohta Y, Tadokoro K, Sasaki R, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Shang J, Yamashita T, Takehisa Y, Nishino I, Abe K.

J Clin Neurosci. 2018 Dec;58:215-217. doi: 10.1016/j.jocn.2018.10.021. Epub 2018 Oct 13.

PMID:
30327220
19.

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.

Hum Mol Genet. 2019 Feb 1;28(3):476-486. doi: 10.1093/hmg/ddy364.

PMID:
30312408
20.

Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.

Pakula A, Lek A, Widrick J, Mitsuhashi H, Bugda Gwilt KM, Gupta VA, Rahimov F, Criscione J, Zhang Y, Gibbs D, Murphy Q, Manglik A, Mead L, Kunkel L.

Hum Mol Genet. 2019 Jan 15;28(2):320-331. doi: 10.1093/hmg/ddy348.

PMID:
30307508

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