Hoffman EP - Search Results

1

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project; Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, Straub V, Lochmüller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald CM, Hoffman EP; Cooperative International Neuromuscular Research Group. Bello L, et al. Among authors: hoffman ep. Am J Hum Genet. 2016 Nov 3;99(5):1163-1171. doi: 10.1016/j.ajhg.2016.08.023. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745838 Free PMC article.

2

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.

Schwartz LS, Tarleton J, Popovich B, Seltzer WK, Hoffman EP. Schwartz LS, et al. Among authors: hoffman ep. Am J Hum Genet. 1992 Oct;51(4):721-9. Am J Hum Genet. 1992. PMID: 1415217 Free PMC article.

3

X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers.

Wenger SL, Steele MW, Hoffman EP, Barmada MA, Wessel HB. Wenger SL, et al. Among authors: hoffman ep. Am J Med Genet. 1992 Aug 1;43(6):1012-5. doi: 10.1002/ajmg.1320430619. Am J Med Genet. 1992. PMID: 1415326

4

Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy.

Kuller JA, Hoffman EP, Fries MH, Golbus MS. Kuller JA, et al. Among authors: hoffman ep. Hum Genet. 1992 Sep-Oct;90(1-2):34-40. doi: 10.1007/BF00210742. Hum Genet. 1992. PMID: 1427785

5

Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions.

Beggs AH, Hoffman EP, Kunkel LM. Beggs AH, et al. Among authors: hoffman ep. Am J Med Genet. 1992 Oct 1;44(3):378-81. doi: 10.1002/ajmg.1320440322. Am J Med Genet. 1992. PMID: 1488990

6

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.

7

Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier.

Hurko O, Hoffman EP, McKee L, Johns DR, Kunkel LM. Hurko O, et al. Among authors: hoffman ep. Am J Hum Genet. 1989 Jun;44(6):820-6. Am J Hum Genet. 1989. PMID: 2658563 Free PMC article.

8

Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling.

Bieber FR, Hoffman EP, Amos JA. Bieber FR, et al. Among authors: hoffman ep. Am J Hum Genet. 1989 Sep;45(3):362-7. Am J Hum Genet. 1989. PMID: 2672800 Free PMC article.

9

An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy.

Fidzianska A, Morrone A, Pegoraro E, Ryniewicz B, Ilnicka A, Zammarchi E, Hoffman EP. Fidzianska A, et al. Among authors: hoffman ep. Neuropediatrics. 1995 Jun;26(3):163-7. doi: 10.1055/s-2007-979747. Neuropediatrics. 1995. PMID: 7477755

10

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

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