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Results: 1 to 20 of 780

1.

Myotonic dystrophy type 2 and related myotonic disorders.

Meola G, Moxley RT 3rd.

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

PMID:
15503094
[PubMed - indexed for MEDLINE]
2.

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

Ranum LP, Day JW.

Curr Neurol Neurosci Rep. 2002 Sep;2(5):465-70. Review.

PMID:
12169228
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
16876389
[PubMed - indexed for MEDLINE]
Free Article
4.

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
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
15065017
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
12970845
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Analysis of repetitive regions in myotonic dystrophy type 1 and 2.

Carson NL.

Curr Protoc Hum Genet. 2009 Apr;Chapter 9:Unit 9.6. doi: 10.1002/0471142905.hg0906s61.

PMID:
19360700
[PubMed - indexed for MEDLINE]
9.

Myotonic dystrophies.

Huang CC, Kuo HC.

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

PMID:
16265841
[PubMed - indexed for MEDLINE]
Free Article
10.

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.

PMID:
14505273
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Myotonic dystrophy type 2.

Finsterer J.

Eur J Neurol. 2002 Sep;9(5):441-7. Review.

PMID:
12220374
[PubMed - indexed for MEDLINE]
13.

[Myotonic dystrophy (DM/Curschmann-Steinert disease) and proximal myotonic myopathy (PROMM/Ricker syndrome). Myotonic muscle diseases with multisystemic manifestations].

Schneider C, Reiners K, Toyka KV.

Nervenarzt. 2001 Aug;72(8):618-24. Review. German.

PMID:
11519202
[PubMed - indexed for MEDLINE]
14.

RNA pathogenesis of the myotonic dystrophies.

Day JW, Ranum LP.

Neuromuscul Disord. 2005 Jan;15(1):5-16. Epub 2004 Nov 26. Review.

PMID:
15639115
[PubMed - indexed for MEDLINE]
15.

Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.

Meola G.

Acta Myol. 2013 Dec;32(3):154-65. Review.

PMID:
24803843
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[Myotonic dystrophy].

Nanba E.

Nihon Rinsho. 2005 Mar;63(3):429-33. Review. Japanese.

PMID:
15773341
[PubMed - indexed for MEDLINE]
17.

A role for PLCβ1 in myotonic dystrophies type 1 and 2.

Faenza I, Blalock W, Bavelloni A, Schoser B, Fiume R, Pacella S, Piazzi M, D'Angelo A, Cocco L.

FASEB J. 2012 Jul;26(7):3042-8. doi: 10.1096/fj.11-200337. Epub 2012 Mar 29.

PMID:
22459146
[PubMed - indexed for MEDLINE]
Free Article
18.

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
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
22643181
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Clinical and molecular aspects of the myotonic dystrophies: a review.

Machuca-Tzili L, Brook D, Hilton-Jones D.

Muscle Nerve. 2005 Jul;32(1):1-18. Review.

PMID:
15770660
[PubMed - indexed for MEDLINE]
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