Pegoraro E - Search Results

1

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.

Nikolic A, Jones TI, Govi M, Mele F, Maranda L, Sera F, Ricci G, Ruggiero L, Vercelli L, Portaro S, Villa L, Fiorillo C, Maggi L, Santoro L, Antonini G, Filosto M, Moggio M, Angelini C, Pegoraro E, Berardinelli A, Maioli MA, D'Angelo G, Di Muzio A, Siciliano G, Tomelleri G, D'Esposito M, Della Ragione F, Brancaccio A, Piras R, Rodolico C, Mongini T, Magdinier F, Salsi V, Jones PL, Tupler R. Nikolic A, et al. Among authors: pegoraro e. Int J Mol Sci. 2020 Apr 10;21(7):2635. doi: 10.3390/ijms21072635. Int J Mol Sci. 2020. PMID: 32290091 Free PMC article.

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

3

Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes.

Angelini C, Fanin M, Pegoraro E, Freda MP, Cadaldini M, Martinello F. Angelini C, et al. Among authors: pegoraro e. Neuromuscul Disord. 1994 Jul;4(4):349-58. doi: 10.1016/0960-8966(94)90071-x. Neuromuscul Disord. 1994. PMID: 7981592

4

Absence of dystrophin and spectrin in regenerating muscle fibers from Becker dystrophy patients.

Fanin M, Pegoraro E, Angelini C. Fanin M, et al. Among authors: pegoraro e. J Neurol Sci. 1994 May;123(1-2):88-94. doi: 10.1016/0022-510x(94)90208-9. J Neurol Sci. 1994. PMID: 8064327

5

Deflazacort in Duchenne dystrophy: study of long-term effect.

Angelini C, Pegoraro E, Turella E, Intino MT, Pini A, Costa C. Angelini C, et al. Among authors: pegoraro e. Muscle Nerve. 1994 Apr;17(4):386-91. doi: 10.1002/mus.880170405. Muscle Nerve. 1994. PMID: 8170484 Clinical Trial.

6

Reappraisal of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis.

Mostacciuolo ML, Miorin M, Pegoraro E, Fanin M, Schiavon F, Vitiello L, Saad FA, Angelini C, Danieli GA. Mostacciuolo ML, et al. Among authors: pegoraro e. Neuroepidemiology. 1993;12(6):326-30. doi: 10.1159/000110334. Neuroepidemiology. 1993. PMID: 8309507

7

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?

Fanin M, Freda MP, Vitiello L, Danieli GA, Pegoraro E, Angelini C. Fanin M, et al. Among authors: pegoraro e. Muscle Nerve. 1996 Sep;19(9):1154-60. doi: 10.1002/mus.880190902. Muscle Nerve. 1996. PMID: 8761273

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

Prognostic factors in mild dystrophinopathies.

Angelini C, Fanin M, Freda MP, Martinello F, Miorin M, Melacini P, Siciliano G, Pegoraro E, Rosa M, Danieli GA. Angelini C, et al. Among authors: pegoraro e. J Neurol Sci. 1996 Oct;142(1-2):70-8. doi: 10.1016/0022-510x(96)00144-x. J Neurol Sci. 1996. PMID: 8902723

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

338 results

Search Page