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Items: 1 to 20 of 76

1.

Myotonic dystrophy type 1 presenting as male infertility.

Kim WB, Jeong JY, Doo SW, Yang WJ, Song YS, Lee SR, Park JW, Kim DW.

Korean J Urol. 2012 Feb;53(2):134-6. doi: 10.4111/kju.2012.53.2.134. Epub 2012 Feb 20.

2.

Myotonic dystrophy presenting as male infertility: a case report.

Futterweit W, Mechanick JI.

Int J Fertil. 1987 Mar-Apr;32(2):142-4.

PMID:
2883141
3.

Six5 is required for spermatogenic cell survival and spermiogenesis.

Sarkar PS, Paul S, Han J, Reddy S.

Hum Mol Genet. 2004 Jul 15;13(14):1421-31. Epub 2004 May 26.

PMID:
15163633
4.

Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1.

Kaliman P, Llagostera E.

Cell Signal. 2008 Nov;20(11):1935-41. doi: 10.1016/j.cellsig.2008.05.005. Epub 2008 May 18. Review.

PMID:
18583094
5.

Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients.

Pan H, Li YY, Li TC, Tsai WT, Li SY, Hsiao KM.

Hum Reprod. 2002 Jun;17(6):1578-83.

PMID:
12042281
6.

Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy.

Srebnik N, Margalioth EJ, Rabinowitz R, Varshaver I, Altarescu G, Renbaum P, Levi-Lahad E, Weintraub A, Eldar-Geva T.

Reprod Biomed Online. 2014 Jul;29(1):94-101. doi: 10.1016/j.rbmo.2014.03.013. Epub 2014 Mar 31.

PMID:
24813161
7.

Muscle pathology in myotonic dystrophy: light and electron microscopic investigation in eighteen patients.

Nadaj-Pakleza A, Lusakowska A, Sułek-Piątkowska A, Krysa W, Rajkiewicz M, Kwieciński H, Kamińska A.

Folia Morphol (Warsz). 2011 May;70(2):121-9.

PMID:
21630234
8.

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
9.

Testis biopsies frequently demonstrate sperm in men with azoospermia and significantly elevated follicle-stimulating hormone levels.

Kim ED, Gilbaugh JH 3rd, Patel VR, Turek PJ, Lipshultz LI.

J Urol. 1997 Jan;157(1):144-6.

PMID:
8976237
10.

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.

11.

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

Santoro M, Modoni A, Masciullo M, Gidaro T, Broccolini A, Ricci E, Tonali PA, Silvestri G.

Exp Mol Pathol. 2010 Oct;89(2):158-68. doi: 10.1016/j.yexmp.2010.05.007. Epub 2010 Jun 1.

PMID:
20685272
12.

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

Le Ber I, Martinez M, Campion D, Laquerrière A, Bétard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, Hannequin D.

Brain. 2004 Sep;127(Pt 9):1979-92. Epub 2004 Jun 23.

PMID:
15215218
13.

Decreased hypocretin-1 (Orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness.

Martínez-Rodríguez JE, Lin L, Iranzo A, Genis D, Martí MJ, Santamaria J, Mignot E.

Sleep. 2003 May 1;26(3):287-90.

PMID:
12749547
14.

[Endocrinological and histomorphological studies of testicular atrophy in myotonic dystrophy (author's transl)].

Becker H, Hofmann N.

Dtsch Med Wochenschr. 1975 Jan 24;100(4):149-52. German.

PMID:
163179
15.

Peripheral nerve involvement in myotonic dystrophy type 2 - similar or different than in myotonic dystrophy type 1?

Nojszewska M, Łusakowska A, Szmidt-Salkowska E, Gaweł M, Lipowska M, Sułek A, Krysa W, Rajkiewicz M, Seroka A, Kaczmarek K, Kamińska AM.

Neurol Neurochir Pol. 2015;49(3):164-70. doi: 10.1016/j.pjnns.2015.04.008. Epub 2015 May 6.

PMID:
26048604
16.

Myotonic dystrophy: emerging mechanisms for DM1 and DM2.

Cho DH, Tapscott SJ.

Biochim Biophys Acta. 2007 Feb;1772(2):195-204. Epub 2006 Jun 20. Review.

17.

A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization.

Son SB, Chun JM, Kim KA, Ko SY, Lee YK, Shin SM.

J Korean Med Sci. 2012 Oct;27(10):1269-72. doi: 10.3346/jkms.2012.27.10.1269. Epub 2012 Oct 2.

18.

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.

19.

[Painful unilateral gynecomastia in a patient with myotonic dystrophy].

Oya Y, Shigeto H, Ogawa M, Kawai M.

Rinsho Shinkeigaku. 2000 Oct;40(10):1047-9. Japanese.

PMID:
11296373
20.

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