Angelini C - Search Results

1

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. Among authors: angelini c. 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

2

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

3

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. Among authors: angelini c. Neurology. 1995 Apr;45(4):677-90. doi: 10.1212/wnl.45.4.677. Neurology. 1995. PMID: 7723955

4

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

Vergani L, Martinuzzi A, Carelli V, Cortelli P, Montagna P, Schievano G, Carrozzo R, Angelini C, Lugaresi E. Vergani L, et al. Among authors: angelini c. Biochem Biophys Res Commun. 1995 May 25;210(3):880-8. doi: 10.1006/bbrc.1995.1740. Biochem Biophys Res Commun. 1995. PMID: 7763260

5

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: angelini c. Neurology. 1996 Oct;47(4):963-8. doi: 10.1212/wnl.47.4.963. Neurology. 1996. PMID: 8857727

6

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: angelini c. 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

7

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: angelini c. J Clin Invest. 1997 Apr 1;99(7):1691-8. doi: 10.1172/JCI119332. J Clin Invest. 1997. PMID: 9120013 Free PMC article.

8

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

Korade-Mirnics Z, Tarleton J, Servidei S, Casey RR, Gennarelli M, Pegoraro E, Angelini C, Hoffman EP. Korade-Mirnics Z, et al. Among authors: angelini c. Hum Mol Genet. 1999 Jun;8(6):1017-23. doi: 10.1093/hmg/8.6.1017. Hum Mol Genet. 1999. PMID: 10332033

9

Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy.

Pegoraro E, Fanin M, Angelini C, Hoffman EP. Pegoraro E, et al. Among authors: angelini c. Neuromuscul Disord. 1999 Jul;9(5):323-5. doi: 10.1016/s0960-8966(99)00020-6. Neuromuscul Disord. 1999. PMID: 10407854

10

A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.

Wu FF, Takahashi MP, Pegoraro E, Angelini C, Colleselli P, Cannon SC, Hoffman EP. Wu FF, et al. Among authors: angelini c. Neurology. 2001 Apr 10;56(7):878-84. doi: 10.1212/wnl.56.7.878. Neurology. 2001. PMID: 11294924

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