Hoffman EP - Search Results

1

The clinical spectrum of sarcoglycanopathies.

Angelini C, Fanin M, Freda MP, Duggan DJ, Siciliano G, Hoffman EP. Angelini C, et al. Among authors: hoffman ep. Neurology. 1999 Jan 1;52(1):176-9. doi: 10.1212/wnl.52.1.176. Neurology. 1999. PMID: 9921870

2

Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.

Hoffman EP, Garcia CA, Chamberlain JS, Angelini C, Lupski JR, Fenwick R. Hoffman EP, et al. Ann Neurol. 1991 Oct;30(4):605-10. doi: 10.1002/ana.410300414. Ann Neurol. 1991. PMID: 1789686

3

The frequency of patients with dystrophin abnormalities in a limb-girdle patient population.

Arikawa E, Hoffman EP, Kaido M, Nonaka I, Sugita H, Arahata K. Arikawa E, et al. Among authors: hoffman ep. Neurology. 1991 Sep;41(9):1491-6. doi: 10.1212/wnl.41.9.1491. Neurology. 1991. PMID: 1842672

4

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM. Beggs AH, et al. Among authors: hoffman ep. Am J Hum Genet. 1991 Jul;49(1):54-67. Am J Hum Genet. 1991. PMID: 2063877 Free PMC article.

5

Enormous dystrophin in a patient with Becker muscular dystrophy.

Angelini C, Beggs AH, Hoffman EP, Fanin M, Kunkel LM. Angelini C, et al. Among authors: hoffman ep. Neurology. 1990 May;40(5):808-12. doi: 10.1212/wnl.40.5.808. Neurology. 1990. PMID: 2158637

6

Quadriceps myopathy: forme fruste of Becker muscular dystrophy.

Sunohara N, Arahata K, Hoffman EP, Yamada H, Nishimiya J, Arikawa E, Kaido M, Nonaka I, Sugita H. Sunohara N, et al. Among authors: hoffman ep. Ann Neurol. 1990 Nov;28(5):634-9. doi: 10.1002/ana.410280506. Ann Neurol. 1990. PMID: 2260849

7

Cross-reactive protein in Duchenne muscle.

Hoffman EP, Beggs AH, Koenig M, Kunkel LM, Angelini C. Hoffman EP, et al. Lancet. 1989 Nov 18;2(8673):1211-2. doi: 10.1016/s0140-6736(89)91812-6. Lancet. 1989. PMID: 2478850 No abstract available.

8

Improved diagnosis of Becker muscular dystrophy by dystrophin testing.

Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB. Hoffman EP, et al. Neurology. 1989 Aug;39(8):1011-7. doi: 10.1212/wnl.39.8.1011. Neurology. 1989. PMID: 2668783

9

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.

Wang J, Pegoraro E, Menegazzo E, Gennarelli M, Hoop RC, Angelini C, Hoffman EP. Wang J, et al. Among authors: hoffman ep. Hum Mol Genet. 1995 Apr;4(4):599-606. doi: 10.1093/hmg/4.4.599. Hum Mol Genet. 1995. PMID: 7543316

10

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.

Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP. Bönnemann CG, et al. Among authors: hoffman ep. Nat Genet. 1995 Nov;11(3):266-73. doi: 10.1038/ng1195-266. Nat Genet. 1995. PMID: 7581449

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