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Items: 1 to 20 of 101

1.

The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice.

Ferlini A, Neri M, Gualandi F.

Neuromuscul Disord. 2013 Jan;23(1):4-14. doi: 10.1016/j.nmd.2012.09.002. Epub 2012 Oct 30. Review.

PMID:
23116935
2.

Dystrophin and mutations: one gene, several proteins, multiple phenotypes.

Muntoni F, Torelli S, Ferlini A.

Lancet Neurol. 2003 Dec;2(12):731-40. Review.

PMID:
14636778
3.

Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.

Cohen N, Muntoni F.

Heart. 2004 Aug;90(8):835-41. Review.

4.

Dystrophies and heart disease.

Cox GF, Kunkel LM.

Curr Opin Cardiol. 1997 May;12(3):329-43. Review.

PMID:
9243091
5.

[Genotypic diagnosis of Duchenne and Becker muscular dystrophies].

Tuffery-Giraud S, Chambert S, Demaille J, Claustres M.

Ann Biol Clin (Paris). 1999 Jul-Aug;57(4):417-26. Review. French.

6.

Dystrophinopathies.

Reitter B, Goebel HH.

Semin Pediatr Neurol. 1996 Jun;3(2):99-109. Review.

PMID:
8795844
7.

[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].

Lukás Z, Vojtísková M, Fajkusová L, Bednarík J, Kadanka Z, Hájek J, Hermanová M, Vohánka S, Vytopil M.

Cesk Patol. 2001 Nov;37(4):137-45. Czech.

PMID:
11813630
8.

Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

Prior TW, Bridgeman SJ.

J Mol Diagn. 2005 Aug;7(3):317-26. Review.

9.

Dystrophin and disease.

Hoffman EP, Schwartz L.

Mol Aspects Med. 1991;12(3):175-94. Review.

PMID:
1770836
10.

Duchenne and Becker muscular dystrophies: genetics, prenatal diagnosis, and future prospects.

Bieber FR, Hoffman EP.

Clin Perinatol. 1990 Dec;17(4):845-65. Review.

PMID:
2286031
11.

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.

Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ER, Swift M.

Circulation. 1993 Jun;87(6):1854-65.

PMID:
8504498
12.

The differential diagnosis of the human dystrophinopathies and related disorders.

Kakulas BA.

Curr Opin Neurol. 1996 Oct;9(5):380-8. Review.

PMID:
8894415
13.

Etiology and pathogenesis of the muscular dystrophies.

Van den Bergh PY, Tomé FM, Fardeau M.

Acta Neurol Belg. 1995;95(3):123-41. Review.

PMID:
7484050
14.

Dilated cardiomyopathy and the dystrophin gene: an illustrated review.

Oldfors A, Eriksson BO, Kyllerman M, Martinsson T, Wahlström J.

Br Heart J. 1994 Oct;72(4):344-8. Review.

15.

Dystrophinopathies.

Brandsema JF, Darras BT.

Semin Neurol. 2015 Aug;35(4):369-84. doi: 10.1055/s-0035-1558982. Epub 2015 Oct 6. Review.

PMID:
26502761
16.

[Molecular genetics and problems found in genetic diagnosis of Duchenne Becker muscular dystrophy].

Takeshima Y, Matsuo M.

Nihon Rinsho. 1997 Dec;55(12):3120-5. Review. Japanese.

PMID:
9436421
17.

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations.

Pillers DA, Fitzgerald KM, Duncan NM, Rash SM, White RA, Dwinnell SJ, Powell BR, Schnur RE, Ray PN, Cibis GW, Weleber RG.

Hum Genet. 1999 Jul-Aug;105(1-2):2-9.

PMID:
10480348
18.

Diagnosis of dystrophinopathies: review for the clinician.

Miller G, Wessel HB.

Pediatr Neurol. 1993 Jan-Feb;9(1):3-9. Review.

PMID:
8452597
19.

[Molecular genetics of Duchenne/Becker muscular dystrophy].

Saito K, Ikeya K, Kondo E, Yamauchi A, Komine S, Fukuyama Y.

Nihon Rinsho. 1993 Sep;51(9):2420-7. Review. Japanese.

PMID:
8411723
20.

[Genetics and molecular aspects of dystrophinopathies].

Leturcq F, Tuffery-Giraud S.

Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S3-11. doi: 10.1016/S0929-693X(16)30002-1. Review. French.

PMID:
26773583

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