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Results: 1 to 20 of 211

1.

Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature.

Zühlke C, Roeder E, Purmann S, Wieczorek D, Curry C, Loustalet C, Hellenbroich Y, Richardt HH, Gillessen-Kaesbach G.

Am J Med Genet A. 2007 Sep 1;143A(17):2058-61. Review. No abstract available.

PMID:
17663477
[PubMed - indexed for MEDLINE]
2.

Homozygous myotonic dystrophy with craniosynostosis.

Cerghet M, Tapos D, Serajee FJ, Mahbubul Huq AH.

J Child Neurol. 2008 Aug;23(8):930-3. doi: 10.1177/0883073808314965. Epub 2008 May 12.

PMID:
18474935
[PubMed - indexed for MEDLINE]
3.

Presymptomatic testing in myotonic dystrophy: genetic counselling approaches.

Fokstuen S, Myring J, Evans C, Harper PS.

J Med Genet. 2001 Dec;38(12):846-50. No abstract available.

PMID:
11768386
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Molecular and clinical study of two myotonic dystrophy homozygotes.

Akbas F, Serdaroglu P, Deymeer F, Aysal F, Erginel-Unaltuna N.

J Med Genet. 2001 Nov;38(11):E40. No abstract available.

PMID:
11694554
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales.

Fokstuen S, Myring J, Meredith L, Ravine D, Harper PS.

J Med Genet. 2001 Dec;38(12):E42. No abstract available.

PMID:
11748308
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Relation of CTG expansion and clinical variables to electrocardiogram conduction abnormalities and sudden death in patients with myotonic dystrophy.

Sabovic M, Medica I, Logar N, Mandić E, Zidar J, Peterlin B.

Neuromuscul Disord. 2003 Dec;13(10):822-6.

PMID:
14678805
[PubMed - indexed for MEDLINE]
7.

[Genetic epidemiology of myotonic dystrophy in Kagoshima and Okinawa districts in Japan].

Osame M, Furusho T.

Rinsho Shinkeigaku. 1983 Dec;23(12):1067-71. Japanese. No abstract available.

PMID:
6677410
[PubMed - indexed for MEDLINE]
8.

The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview.

Novelli G, Gennarelli M, Fattorini C, Abbruzzese C, Dallapiccola B.

Biomed Pharmacother. 1993;47(8):321-30. Review. No abstract available.

PMID:
8061254
[PubMed - indexed for MEDLINE]
9.

Early onset myotonic dystrophy. Clinical and laboratory findings in five families and a review of the literature.

Watters GV, Williams TW.

Arch Neurol. 1967 Aug;17(2):137-52. No abstract available.

PMID:
6028243
[PubMed - indexed for MEDLINE]
10.

The myotonias: their diagnosis and treatment.

Moxley RT 3rd.

Compr Ther. 1996 Jan;22(1):8-21. Review. No abstract available.

PMID:
8654027
[PubMed - indexed for MEDLINE]
11.

Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK.

Kakourou G, Dhanjal S, Mamas T, Gotts S, Doshi A, Fordham K, Serhal P, Ranieri DM, Delhanty JD, Harper JC, SenGupta SB.

Neuromuscul Disord. 2008 Feb;18(2):131-6. Epub 2007 Nov 28.

PMID:
18053720
[PubMed - indexed for MEDLINE]
12.

[Myotonic dystrophy].

Nesterov LN, Sushcheva GP, Viatkina SIa, Nesterova IM.

Zh Nevropatol Psikhiatr Im S S Korsakova. 1983;83(11):1636-41. Russian.

PMID:
6232784
[PubMed - indexed for MEDLINE]
13.

Getting a grip on the myotonic dystrophies.

Thornton CA, Ashizawa T.

Neurology. 1999 Jan 1;52(1):12-3. No abstract available.

PMID:
9921841
[PubMed - indexed for MEDLINE]
14.

[Familial atrophic myotonia].

Neĭmark EZ, Tokar' ZM, Vasil'eva AF, Pecherskaia IE.

Vrach Delo. 1974;0(7):99-103. Russian. No abstract available.

PMID:
4421221
[PubMed - indexed for MEDLINE]
15.

Images in clinical medicine. Myotonic dystrophy.

Franco LM, Skorupski JC.

N Engl J Med. 2009 Jul 23;361(4):e4. doi: 10.1056/NEJMicm0802903. No abstract available.

PMID:
19625713
[PubMed - indexed for MEDLINE]
Free Article
16.

Myotonic dystrophy: some genetic problems.

Harper PS.

Birth Defects Orig Artic Ser. 1974;10(10):120-5. No abstract available.

PMID:
4462623
[PubMed - indexed for MEDLINE]
17.

[Clinical aspects of myotonic dystrophy in childhood].

Osawa M, Inoko K, Muto A.

No To Hattatsu. 2009 May;41(3):163-70. Review. Japanese. No abstract available.

PMID:
19517784
[PubMed - indexed for MEDLINE]
18.

[Recommendations of good practices for the genetic diagnosis of myotonic dystrophy. Grupo AEGH/CIBERER].

Garcia Planells J, Molano J, Borrego S; Grupo AEGH/CIBERER.

Med Clin (Barc). 2011 Mar 19;136(7):303-8. doi: 10.1016/j.medcli.2010.04.020. Epub 2010 Sep 21. Spanish. No abstract available.

PMID:
20863536
[PubMed - indexed for MEDLINE]
19.

[An unstable mutation as cause of myotonic dystrophy].

Brunner HG, Höweler CJ, Smeets HJ, Wieringa B.

Ned Tijdschr Geneeskd. 1993 Nov 27;137(48):2468-72. Review. Dutch. No abstract available.

PMID:
8272119
[PubMed - indexed for MEDLINE]
20.

Immunocytochemical localization of myotonin protein kinase on muscle from patients with congenital myotonic dystrophy.

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

Histol Histopathol. 1996 Oct;11(4):869-71.

PMID:
8930628
[PubMed - indexed for MEDLINE]

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