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Items: 1 to 20 of 21

1.

Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study.

Conforti R, de Cristofaro M, Cristofano A, Brogna B, Sardaro A, Tedeschi G, Cirillo S, Di Costanzo A.

Neuroradiol J. 2016 Feb;29(1):36-45. doi: 10.1177/1971400915621325. Epub 2016 Jan 11.

2.

Regulation of human MAPT gene expression.

Caillet-Boudin ML, Buée L, Sergeant N, Lefebvre B.

Mol Neurodegener. 2015 Jul 14;10:28. doi: 10.1186/s13024-015-0025-8. Review.

3.

Bridging integrator 1 (BIN1) protein expression increases in the Alzheimer's disease brain and correlates with neurofibrillary tangle pathology.

Holler CJ, Davis PR, Beckett TL, Platt TL, Webb RL, Head E, Murphy MP.

J Alzheimers Dis. 2014;42(4):1221-7. doi: 10.3233/JAD-132450.

4.

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.

Cortese A, Plagnol V, Brady S, Simone R, Lashley T, Acevedo-Arozena A, de Silva R, Greensmith L, Holton J, Hanna MG, Fisher EM, Fratta P.

Neurobiol Aging. 2014 Jun;35(6):1491-8. doi: 10.1016/j.neurobiolaging.2013.12.029. Epub 2013 Dec 30.

5.

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.

Caillet-Boudin ML, Fernandez-Gomez FJ, Tran H, Dhaenens CM, Buee L, Sergeant N.

Front Mol Neurosci. 2014 Jan 9;6:57. doi: 10.3389/fnmol.2013.00057. Review.

6.

Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.

Axford MM, Wang YH, Nakamori M, Zannis-Hadjopoulos M, Thornton CA, Pearson CE.

PLoS Genet. 2013;9(12):e1003866. doi: 10.1371/journal.pgen.1003866. Epub 2013 Dec 19.

7.

Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis.

Xia G, Santostefano KE, Goodwin M, Liu J, Subramony SH, Swanson MS, Terada N, Ashizawa T.

Cell Reprogram. 2013 Apr;15(2):166-77. doi: 10.1089/cell.2012.0086.

8.

CELFish ways to modulate mRNA decay.

Vlasova-St Louis I, Dickson AM, Bohjanen PR, Wilusz CJ.

Biochim Biophys Acta. 2013 Jun-Jul;1829(6-7):695-707. doi: 10.1016/j.bbagrm.2013.01.001. Epub 2013 Jan 15. Review.

9.

CUG-BP, Elav-like family (CELF)-mediated alternative splicing regulation in the brain during health and disease.

Ladd AN.

Mol Cell Neurosci. 2013 Sep;56:456-64. doi: 10.1016/j.mcn.2012.12.003. Epub 2012 Dec 14. Review.

10.
11.

Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain.

Suenaga K, Lee KY, Nakamori M, Tatsumi Y, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Du H, Ares M Jr, Swanson MS, Kimura T.

PLoS One. 2012;7(3):e33218. doi: 10.1371/journal.pone.0033218. Epub 2012 Mar 13.

12.

The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins.

Dasgupta T, Ladd AN.

Wiley Interdiscip Rev RNA. 2012 Jan-Feb;3(1):104-21. doi: 10.1002/wrna.107. Epub 2011 Aug 17. Review.

13.

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease.

Minnerop M, Weber B, Schoene-Bake JC, Roeske S, Mirbach S, Anspach C, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, Klockgether T, Kornblum C.

Brain. 2011 Dec;134(Pt 12):3530-46. doi: 10.1093/brain/awr299. Epub 2011 Nov 29.

14.

Neurodegeneration the RNA way.

Renoux AJ, Todd PK.

Prog Neurobiol. 2012 May;97(2):173-89. doi: 10.1016/j.pneurobio.2011.10.006. Epub 2011 Nov 3. Review.

15.

Therapeutics development in myotonic dystrophy type 1.

Foff EP, Mahadevan MS.

Muscle Nerve. 2011 Aug;44(2):160-9. doi: 10.1002/mus.22090. Epub 2011 May 23. Review.

16.

Neuropathology does not Correlate with Regional Differences in the Extent of Expansion of CTG Repeats in the Brain with Myotonic Dystrophy Type 1.

Itoh K, Mitani M, Kawamoto K, Futamura N, Funakawa I, Jinnai K, Fushiki S.

Acta Histochem Cytochem. 2010 Dec 29;43(6):149-56. doi: 10.1267/ahc.10019. Epub 2010 Dec 18.

17.

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.

Garbern JY, Neumann M, Trojanowski JQ, Lee VM, Feldman G, Norris JW, Friez MJ, Schwartz CE, Stevenson R, Sima AA.

Brain. 2010 May;133(Pt 5):1391-402. doi: 10.1093/brain/awq071. Epub 2010 Apr 15.

18.

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.

Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edström L, Krahe R, Udd B.

Acta Neuropathol. 2010 Apr;119(4):465-79. doi: 10.1007/s00401-010-0637-6. Epub 2010 Jan 12.

19.

Tau 6D and 6P isoforms inhibit polymerization of full-length tau in vitro.

Lapointe NE, Horowitz PM, Guillozet-Bongaarts AL, Silva A, Andreadis A, Binder LI.

Biochemistry. 2009 Dec 29;48(51):12290-7. doi: 10.1021/bi901304u.

20.

Pathogenic RNAs in microsatellite expansion disease.

Shin J, Charizanis K, Swanson MS.

Neurosci Lett. 2009 Dec 4;466(2):99-102. doi: 10.1016/j.neulet.2009.07.079. Epub 2009 Aug 4. Review.

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