Pegoraro E - Search Results

1

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.

Todeschini A, Gualandi F, Trabanelli C, Armaroli A, Ravani A, Fanin M, Rota S, Bello L, Ferlini A, Pegoraro E, Padovani A, Filosto M. Todeschini A, et al. Among authors: pegoraro e. Neuromuscul Disord. 2016 Oct;26(10):662-665. doi: 10.1016/j.nmd.2016.08.007. Epub 2016 Aug 16. Neuromuscul Disord. 2016. PMID: 27616544

2

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

3

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

4

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

5

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

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: 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

7

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

8

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

9

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bönnemann CC, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, Hoffman EP. Pegoraro E, et al. Neurology. 1998 Jul;51(1):101-10. doi: 10.1212/wnl.51.1.101. Neurology. 1998. PMID: 9674786

10

Steroids in muscular dystrophy: where do we stand?

Dubrovsky AL, Angelini C, Bonifati DM, Pegoraro E, Mesa L. Dubrovsky AL, et al. Among authors: pegoraro e. Neuromuscul Disord. 1998 Aug;8(6):380-4. doi: 10.1016/s0960-8966(98)00047-9. Neuromuscul Disord. 1998. PMID: 9713854 Review. No abstract available.

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