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Items: 1 to 20 of 883

1.

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R.

Am J Hum Genet. 2003 Oct;73(4):835-48. Epub 2003 Sep 10.

2.

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.

Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP.

Am J Hum Genet. 2003 Oct;73(4):849-62. Epub 2003 Sep 22.

3.

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.

Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP.

Science. 2001 Aug 3;293(5531):864-7.

4.

Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.

Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LP, Ohno K, Matsuura T.

Neurogenetics. 2008 Feb;9(1):61-3. Epub 2007 Dec 5.

PMID:
18057971
5.

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.

6.

Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.

Vallo L, Bonifazi E, Borgiani P, Novelli G, Botta A.

Mol Cell Probes. 2005 Feb;19(1):71-4. Epub 2004 Nov 12.

PMID:
15652222
7.

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.

Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP.

Neurology. 2003 Feb 25;60(4):657-64.

PMID:
12601109
8.

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

Botta A, Caldarola S, Vallo L, Bonifazi E, Fruci D, Gullotta F, Massa R, Novelli G, Loreni F.

Biochim Biophys Acta. 2006 Mar;1762(3):329-34. Epub 2005 Dec 6.

9.

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).

Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krahe R, Udd B.

Neuromuscul Disord. 2004 Apr;14(4):274-83.

PMID:
15019706
10.

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.

11.

Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM.

Sun C, Henriksen OA, Tranebjaerg L.

Clin Genet. 1999 Dec;56(6):457-61.

PMID:
10665666
12.

Genetic mapping of a second myotonic dystrophy locus.

Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW.

Nat Genet. 1998 Jun;19(2):196-8.

PMID:
9620781
13.

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

Yotova V, Labuda D, Zietkiewicz E, Gehl D, Lovell A, Lefebvre JF, Bourgeois S, Lemieux-Blanchard E, Labuda M, Vézina H, Houde L, Tremblay M, Toupance B, Heyer E, Hudson TJ, Laberge C.

Hum Genet. 2005 Jul;117(2-3):177-87. Epub 2005 May 10.

PMID:
15883838
14.

De novo myotonic dystrophy mutation in a Nigerian kindred.

Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano MJ, Ashizawa T.

Am J Hum Genet. 1995 May;56(5):1067-74.

15.

Clinical and genetic heterogeneity in myotonic dystrophies.

Meola G.

Muscle Nerve. 2000 Dec;23(12):1789-99. Review.

PMID:
11102902
16.

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?

Abbruzzese C, Krahe R, Liguori M, Tessarolo D, Siciliano MJ, Ashizawa T, Giacanelli M.

J Neurol. 1996 Oct;243(10):715-21.

PMID:
8923304
17.

Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy.

Cardani R, Mancinelli E, Sansone V, Rotondo G, Meola G.

Eur J Histochem. 2004 Oct-Dec;48(4):437-42.

PMID:
15718211
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.

Premutation allele pool in myotonic dystrophy type 2.

Bachinski LL, Czernuszewicz T, Ramagli LS, Suominen T, Shriver MD, Udd B, Siciliano MJ, Krahe R.

Neurology. 2009 Feb 10;72(6):490-7. doi: 10.1212/01.wnl.0000333665.01888.33. Epub 2008 Nov 19.

20.

[A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion].

Zhao XP, Xie HJ, Zheng HM, Yu ZL, Cui Y, Ding SJ, Ren DM, Tang GM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Oct;21(5):459-62. Chinese.

PMID:
15476170
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