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Items: 17

1.

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.

Kesari A, Pirra LN, Bremadesam L, McIntyre O, Gordon E, Dubrovsky AL, Viswanathan V, Hoffman EP.

Hum Mutat. 2008 May;29(5):728-37. doi: 10.1002/humu.20722.

PMID:
18348289
2.

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F.

Hum Mutat. 2007 Feb;28(2):183-95.

PMID:
17041906
3.

The rate of spontaneous mutation of a human gene. 1935.

Haldane JB.

J Genet. 2004 Dec;83(3):235-44. No abstract available.

4.

Comparative analysis between Duchenne and Becker types muscular dystrophy.

Ishpekova B, Milanov I, Christova LG, Alexandrov AS.

Electromyogr Clin Neurophysiol. 1999 Jul-Aug;39(5):315-8.

PMID:
10422002
5.

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy.

Hoogerwaard EM, van der Wouw PA, Wilde AA, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, van Essen AJ, Leschot NJ, de Visser M.

Neuromuscul Disord. 1999 Jul;9(5):347-51.

PMID:
10407858
6.

Dystrophies and heart disease.

Cox GF, Kunkel LM.

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

PMID:
9243091
7.

Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies.

Politano L, Nigro V, Nigro G, Petretta VR, Passamano L, Papparella S, Di Somma S, Comi LI.

JAMA. 1996 May 1;275(17):1335-8.

PMID:
8614119
8.

Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.

Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, Rana M, Tonali P.

Neurology. 1993 Nov;43(11):2342-5.

PMID:
8232953
9.

Somatic mosaicism for a DMD gene deletion.

Saito K, Ikeya K, Kondo E, Komine S, Komine M, Osawa M, Aikawa E, Fukuyama Y.

Am J Med Genet. 1995 Mar 13;56(1):80-6.

PMID:
7747792
10.

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei.

Pegoraro E, Schimke RN, Garcia C, Stern H, Cadaldini M, Angelini C, Barbosa E, Carroll J, Marks WA, Neville HE, Marks H, Appleton S, Toriello H, Wessel HB, Donnelly J, Bernes SM, Taber JW, Weiss L, Hoffman EP.

Neurology. 1995 Apr;45(4):677-90.

PMID:
7723955
11.

A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom.

Kinoshita H, Goto Y, Ishikawa M, Uemura T, Matsumoto K, Hayashi YK, Arahata K, Nonaka I.

Brain Dev. 1995 May-Jun;17(3):202-5. Review.

PMID:
7573761
12.

Polymerase chain reaction fiber analysis and somatic mosaicism in autopsied tissue from a man with Duchenne muscular dystrophy.

Uchino M, Tokunaga M, Yamashita T, Mita S, Hara A, Uyama E, Teramoto H, Naoe H, Ando M.

Acta Neuropathol. 1995;90(2):203-7.

PMID:
7484098
13.

Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation.

Caskey CT, Nussbaum RL, Cohan LC, Pollack L.

Clin Genet. 1980 Nov;18(5):329-41.

PMID:
7460369
14.

Myocarditis. A histopathologic definition and classification.

Aretz HT, Billingham ME, Edwards WD, Factor SM, Fallon JT, Fenoglio JJ Jr, Olsen EG, Schoen FJ.

Am J Cardiovasc Pathol. 1987 Jan;1(1):3-14. No abstract available.

PMID:
3455232
15.

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.

Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, et al.

N Engl J Med. 1988 May 26;318(21):1363-8.

PMID:
3285207
16.

A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms.

Kamakura K, Kawai M, Arahata K, Koizumi H, Watanabe K, Sugita H.

J Neurol. 1990 Dec;237(8):483-5.

PMID:
2074451
17.

Dystrophinopathy in isolated cases of myopathy in females.

Hoffman EP, Arahata K, Minetti C, Bonilla E, Rowland LP.

Neurology. 1992 May;42(5):967-75.

PMID:
1579251

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