Pegoraro E - 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: pegoraro e. 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

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: pegoraro e. Neuropediatrics. 1995 Jun;26(3):163-7. doi: 10.1055/s-2007-979747. Neuropediatrics. 1995. PMID: 7477755

3

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: pegoraro e. Hum Mol Genet. 1995 Apr;4(4):599-606. doi: 10.1093/hmg/4.4.599. Hum Mol Genet. 1995. PMID: 7543316

4

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. Pegoraro E, et al. Neurology. 1995 Apr;45(4):677-90. doi: 10.1212/wnl.45.4.677. Neurology. 1995. PMID: 7723955

5

Duchenne muscular dystrophy and myotonic dystrophy in the same patient.

Dubrovsky AL, Taratuto AL, Sevlever G, Schultz M, Pegoraro E, Hoop RC, Hoffman EP. Dubrovsky AL, et al. Among authors: pegoraro e. Am J Med Genet. 1995 Jan 30;55(3):342-8. doi: 10.1002/ajmg.1320550319. Am J Med Genet. 1995. PMID: 7726234

6

In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy.

Evans MI, Krivchenia EL, Johnson MP, Quintero RA, King M, Pegoraro E, Hoffman EP. Evans MI, et al. Among authors: pegoraro e. Fetal Diagn Ther. 1995 Mar-Apr;10(2):71-5. doi: 10.1159/000264206. Fetal Diagn Ther. 1995. PMID: 7794517

7

Genetic counseling of isolated carriers of Duchenne muscular dystrophy.

Hoffman EP, Pegoraro E, Scacheri P, Burns RG, Taber JW, Weiss L, Spiro A, Blattner P. Hoffman EP, et al. Among authors: pegoraro e. Am J Med Genet. 1996 Jun 28;63(4):573-80. doi: 10.1002/(SICI)1096-8628(19960628)63:4<573::AID-AJMG11>3.0.CO;2-F. Am J Med Genet. 1996. PMID: 8826437

8

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant.

Pegoraro E, Carelli V, Zeviani M, Cortelli P, Montagna P, Barboni P, Angelini C, Hoffman EP. Pegoraro E, et al. Am J Med Genet. 1996 Feb 2;61(4):356-62. doi: 10.1002/(SICI)1096-8628(19960202)61:4<356::AID-AJMG10>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8834048

9

alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations.

Duggan DJ, Fanin M, Pegoraro E, Angelini C, Hoffman EP. Duggan DJ, et al. Among authors: pegoraro e. J Neurol Sci. 1996 Sep 1;140(1-2):30-9. doi: 10.1016/0022-510x(96)00028-7. J Neurol Sci. 1996. PMID: 8866424

10

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.

McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP. McNally EM, et al. Among authors: pegoraro e. Hum Mol Genet. 1996 Nov;5(11):1841-7. doi: 10.1093/hmg/5.11.1841. Hum Mol Genet. 1996. PMID: 8923014

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