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Items: 1 to 20 of 105

1.

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
2.

Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies.

Passeri E, Bugiardini E, Sansone VA, Valaperta R, Costa E, Ambrosi B, Meola G, Corbetta S.

J Neurol Sci. 2013 Aug 15;331(1-2):132-5. doi: 10.1016/j.jns.2013.06.008. Epub 2013 Jun 25.

PMID:
23809192
3.

IgG deficiency and expansion of CTG repeats in myotonic dystrophy.

Kaminsky P, Lesesve JF, Jonveaux P, Pruna L.

Clin Neurol Neurosurg. 2011 Jul;113(6):464-8. doi: 10.1016/j.clineuro.2011.02.003. Epub 2011 Mar 3.

PMID:
21371814
4.

Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length.

Panaite PA, Kuntzer T, Gourdon G, Barakat-Walter I.

Respir Physiol Neurobiol. 2013 Oct 1;189(1):22-6. doi: 10.1016/j.resp.2013.06.014. Epub 2013 Jun 27.

PMID:
23811192
5.

Endocrine function over time in patients with myotonic dystrophy type 1.

Dahlqvist JR, Ørngreen MC, Witting N, Vissing J.

Eur J Neurol. 2015 Jan;22(1):116-22. doi: 10.1111/ene.12542. Epub 2014 Aug 25.

PMID:
25155546
6.

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.

Savić D, Rakocvic-Stojanovic V, Keckarevic D, Culjkovic B, Stojkovic O, Mladenovic J, Todorovic S, Apostolski S, Romac S.

Hum Mutat. 2002 Feb;19(2):131-9.

PMID:
11793472
7.

Vitamin D deficiency in myotonic dystrophy type 1.

Terracciano C, Rastelli E, Morello M, Celi M, Bucci E, Antonini G, Porzio O, Tarantino U, Zenobi R, Massa R.

J Neurol. 2013 Sep;260(9):2330-4. doi: 10.1007/s00415-013-6984-1. Epub 2013 Jun 11.

PMID:
23754696
8.

Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population.

Kwon MJ, Lee ST, Kim BJ, Sung DH, Kim JW, Ki CS.

Ann Clin Lab Sci. 2010 Spring;40(2):156-62.

PMID:
20421627
9.

CTG repeat size and histologic findings of skeletal muscle from patients with congenital myotonic dystrophy.

Tachi N, Kozuka N, Ohya K, Chiba S, Kikuchi K.

J Child Neurol. 1996 Nov;11(6):430-2.

PMID:
9120218
10.

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).

DiPaolo G, Jimenez-Moreno C, Nikolenko N, Atalaia A, Monckton DG, Guglieri M, Lochmüller H.

J Neurol. 2017 Apr;264(4):701-708. doi: 10.1007/s00415-017-8399-x. Epub 2017 Feb 6.

11.

Myotonic dystrophies.

Huang CC, Kuo HC.

Chang Gung Med J. 2005 Aug;28(8):517-26. Review.

12.

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG.

Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15.

PMID:
20080938
13.

DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans.

Acton RT, Rivers CA, Watson B, Oh SJ.

Clin Genet. 2007 Nov;72(5):448-53. Epub 2007 Sep 17.

PMID:
17877752
14.

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy.

Melacini P, Villanova C, Menegazzo E, Novelli G, Danieli G, Rizzoli G, Fasoli G, Angelini C, Buja G, Miorelli M, et al.

J Am Coll Cardiol. 1995 Jan;25(1):239-45.

15.

Myotonic dystrophy: RNA pathogenesis comes into focus.

Ranum LP, Day JW.

Am J Hum Genet. 2004 May;74(5):793-804. Epub 2004 Apr 2. Review.

16.

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1.

Sistiaga A, Urreta I, Jodar M, Cobo AM, Emparanza J, Otaegui D, Poza JJ, Merino JJ, Imaz H, Martí-Massó JF, López de Munain A.

Psychol Med. 2010 Mar;40(3):487-95. doi: 10.1017/S0033291709990602. Epub 2009 Jul 23.

PMID:
19627641
17.

Abnormal calcium metabolism in myotonic dystrophy as shown by the Ellsworth-Howard test and its relation to CTG triplet repeat length.

Kinoshita M, Komori T, Ohtake T, Takahashi R, Nagasawa R, Hirose K.

J Neurol. 1997 Oct;244(10):613-22.

PMID:
9402536
18.

Myotonic dystrophy type 2 and related myotonic disorders.

Meola G, Moxley RT 3rd.

J Neurol. 2004 Oct;251(10):1173-82. Review.

PMID:
15503094
19.

Heart rate variability declines with increasing age and CTG repeat length in patients with myotonic dystrophy type 1.

Hardin BA, Lowe MR, Bhakta D, Groh WJ.

Ann Noninvasive Electrocardiol. 2003 Jul;8(3):227-32.

PMID:
14510658
20.

Muscle phenotype in patients with myotonic dystrophy type 1.

Andersen G, Ørngreen MC, Preisler N, Colding-Jørgensen E, Clausen T, Duno M, Jeppesen TD, Vissing J.

Muscle Nerve. 2013 Mar;47(3):409-15. doi: 10.1002/mus.23535. Epub 2012 Nov 21.

PMID:
23169601

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