Pegoraro E - Search Results

1

The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.

Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: pegoraro e. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 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 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

5

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

6

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect.

Koty PP, Pegoraro E, Hobson G, Marks HG, Turel A, Flagler D, Cadaldini M, Angelini C, Hoffman EP. Koty PP, et al. Among authors: pegoraro e. Neurology. 1996 Oct;47(4):963-8. doi: 10.1212/wnl.47.4.963. Neurology. 1996. PMID: 8857727

7

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

8

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

Morrone A, Pegoraro E, Angelini C, Zammarchi E, Marconi G, Hoffman EP. Morrone A, et al. Among authors: pegoraro e. J Clin Invest. 1997 Apr 1;99(7):1691-8. doi: 10.1172/JCI119332. J Clin Invest. 1997. PMID: 9120013 Free PMC article.

9

Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28.

Pegoraro E, Whitaker J, Mowery-Rushton P, Surti U, Lanasa M, Hoffman EP. Pegoraro E, et al. Am J Hum Genet. 1997 Jul;61(1):160-70. doi: 10.1086/513901. Am J Hum Genet. 1997. PMID: 9245997 Free PMC article.

10

Cardiac transplantation in a Duchenne muscular dystrophy carrier.

Melacini P, Fanin M, Angelini A, Pegoraro E, Livi U, Danieli GA, Hoffman EP, Thiene G, Dalla Volta S, Angelini C. Melacini P, et al. Among authors: pegoraro e. Neuromuscul Disord. 1998 Dec;8(8):585-90. doi: 10.1016/s0960-8966(98)00071-6. Neuromuscul Disord. 1998. PMID: 10093066

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