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Results: 1 to 20 of 117

PubMed Links for Books (Select 1468800)

1.

Cardiac manifestations in myotonic dystrophy type 1 patients followed using a standard protocol in a specialized unit.

Facenda-Lorenzo M, Hernández-Afonso J, Rodríguez-Esteban M, de León-Hernández JC, Grillo-Pérez JJ.

Rev Esp Cardiol (Engl Ed). 2013 Mar;66(3):193-7. doi: 10.1016/j.rec.2012.08.011. Epub 2012 Nov 27.

PMID:
24775453
2.

RNA toxicity in polyglutamine disorders: concepts, models, and progress of research.

Fiszer A, Krzyzosiak WJ.

J Mol Med (Berl). 2013 Jun;91(6):683-91. doi: 10.1007/s00109-013-1016-2. Epub 2013 Mar 20. Review.

3.

Oral motor movements and swallowing in patients with myotonic dystrophy type 1.

Ercolin B, Sassi FC, Mangilli LD, Mendonça LI, Limongi SC, de Andrade CR.

Dysphagia. 2013 Sep;28(3):446-54. doi: 10.1007/s00455-013-9458-9. Epub 2013 Mar 5.

PMID:
23460343
4.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; LEGAL ISSUES COMMITTEE.

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

5.

Myotonic dystrophies type 1 and 2: anesthetic care.

Veyckemans F, Scholtes JL.

Paediatr Anaesth. 2013 Sep;23(9):794-803. doi: 10.1111/pan.12120. Epub 2013 Feb 5. Review.

PMID:
23384336
6.

Peripheral neuropathy in patients with myotonic dystrophy type 1.

Peric S, Stojanovic VR, Nikolic A, Kacar A, Basta I, Pavlovic S, Lavrnic D.

Neurol Res. 2013 May;35(4):331-5. doi: 10.1179/1743132812Y.0000000144. Epub 2013 Jan 10.

PMID:
23336676
7.

Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy.

Gao Z, Cooper TA.

Hum Gene Ther. 2013 May;24(5):499-507. doi: 10.1089/hum.2012.212. Epub 2013 Jan 30. Review.

8.

Prevalence of lifestyle risk factors in myotonic dystrophy type 1.

Gagnon C, Chouinard MC, Laberge L, Brisson D, Gaudet D, Lavoie M, Leclerc N, Mathieu J.

Can J Neurol Sci. 2013 Jan;40(1):42-7.

PMID:
23250126
9.

Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1.

Wozniak JR, Mueller BA, Bell CJ, Muetzel RL, Lim KO, Day JW.

J Neurol. 2013 Apr;260(4):1122-31. doi: 10.1007/s00415-012-6771-4. Epub 2012 Nov 29.

10.

The myotonic dystrophies: molecular, clinical, and therapeutic challenges.

Udd B, Krahe R.

Lancet Neurol. 2012 Oct;11(10):891-905. doi: 10.1016/S1474-4422(12)70204-1. Review.

PMID:
22995693
11.

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.

Douniol M, Jacquette A, Cohen D, Bodeau N, Rachidi L, Angeard N, Cuisset JM, Vallée L, Eymard B, Plaza M, Héron D, Guilé JM.

Dev Med Child Neurol. 2012 Oct;54(10):905-11. doi: 10.1111/j.1469-8749.2012.04379.x. Epub 2012 Aug 3. Review.

PMID:
22861906
12.

Assessment of cardiac involvement in myotonic muscular dystrophy by T1 mapping on magnetic resonance imaging.

Turkbey EB, Gai N, Lima JA, van der Geest RJ, Wagner KR, Tomaselli GF, Bluemke DA, Nazarian S.

Heart Rhythm. 2012 Oct;9(10):1691-7. doi: 10.1016/j.hrthm.2012.06.032. Epub 2012 Jun 16.

13.

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M, Scheffer H.

Eur J Hum Genet. 2012 Dec;20(12):1203-8. doi: 10.1038/ejhg.2012.108. Epub 2012 May 30.

14.

Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation.

Dauvilliers YA, Laberge L.

Sleep Med Rev. 2012 Dec;16(6):539-45. doi: 10.1016/j.smrv.2012.01.001. Epub 2012 Mar 31. Review.

PMID:
22465566
15.

Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients.

Awater C, Zerres K, Rudnik-Schöneborn S.

Eur J Obstet Gynecol Reprod Biol. 2012 Jun;162(2):153-9. doi: 10.1016/j.ejogrb.2012.02.020. Epub 2012 Mar 28.

PMID:
22459654
16.

Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease.

Wahbi K, Meune C, Porcher R, Bécane HM, Lazarus A, Laforêt P, Stojkovic T, Béhin A, Radvanyi-Hoffmann H, Eymard B, Duboc D.

JAMA. 2012 Mar 28;307(12):1292-301. doi: 10.1001/jama.2012.346. Erratum in: JAMA. 2012 Jul 25;308(4):342.

PMID:
22453570
17.

Endocrine function in 97 patients with myotonic dystrophy type 1.

Ørngreen MC, Arlien-Søborg P, Duno M, Hertz JM, Vissing J.

J Neurol. 2012 May;259(5):912-20. doi: 10.1007/s00415-011-6277-5. Epub 2012 Feb 17.

PMID:
22349862
18.

Increased cancer risks in myotonic dystrophy.

Win AK, Perattur PG, Pulido JS, Pulido CM, Lindor NM.

Mayo Clin Proc. 2012 Feb;87(2):130-5. doi: 10.1016/j.mayocp.2011.09.005. Epub 2012 Jan 10.

19.

Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1.

Pincherle A, Patruno V, Raimondi P, Moretti S, Dominese A, Martinelli-Boneschi F, Pasanisi MB, Canioni E, Salerno F, Deleo F, Spreafico R, Mantegazza R, Villani F, Morandi L.

Neuromuscul Disord. 2012 Mar;22(3):219-24. doi: 10.1016/j.nmd.2011.08.010. Epub 2011 Dec 3.

PMID:
22137426
20.

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.

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