Bertini E - Search Results

1

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

D'Amico A, Benedetti S, Petrini S, Sambuughin N, Boldrini R, Menditto I, Ferrari M, Verardo M, Goldfarb L, Bertini E. D'Amico A, et al. Among authors: bertini e. Neuromuscul Disord. 2005 Dec;15(12):847-50. doi: 10.1016/j.nmd.2005.09.007. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288872

2

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

Bertini E, Bosman C, Ricci E, Servidei S, Boldrini R, Sabatelli M, Salviati G. Bertini E, et al. Acta Neuropathol. 1991;81(6):632-40. doi: 10.1007/BF00296373. Acta Neuropathol. 1991. PMID: 1882639

3

Involvement of respiratory muscles in cytoplasmic body myopathy--a pathology study.

Bertini E, Ricci E, Boldrini R, Servidei S, Fusilli S, Dionisi-Vici C, Bosman C, Bonilla E. Bertini E, et al. Brain Dev. 1990;12(6):798-806. doi: 10.1016/s0387-7604(12)80010-6. Brain Dev. 1990. PMID: 2092592

4

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments.

Bertini E, Bosman C, Bevilacqua M, Ricci E, Gagliardi GM, Parisi F, Servidei S, Dionisi-Vici C, Ballerini L. Bertini E, et al. Eur J Pediatr. 1990 Sep;149(12):856-8. doi: 10.1007/BF02072073. Eur J Pediatr. 1990. PMID: 2226571

5

Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy.

Vigevano F, Bertini E, Boldrini R, Bosman C, Claps D, di Capua M, di Rocco C, Rossi GF. Vigevano F, et al. Among authors: bertini e. Epilepsia. 1989 Nov-Dec;30(6):833-43. doi: 10.1111/j.1528-1157.1989.tb05347.x. Epilepsia. 1989. PMID: 2591346

6

Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs.

Ricci E, Bertini E, Boldrini R, Sabatelli M, Servidei S, Mazziotta MR, Bosman C, Tonali P. Ricci E, et al. Among authors: bertini e. Am J Med Genet. 1988 Dec;31(4):933-42. doi: 10.1002/ajmg.1320310428. Am J Med Genet. 1988. PMID: 3239582

7

Diaphragmatic paralysis due to partial diaphragmatic hypoplasia mimicking a localized muscular dystrophy: a case report.

Bosman C, Bachelet V, Boldrini R, Bertini E. Bosman C, et al. Among authors: bertini e. Clin Neuropathol. 1988 Jan-Feb;7(1):33-8. Clin Neuropathol. 1988. PMID: 3286072 Review.

8

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

Dionisi Vici C, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M. Dionisi Vici C, et al. Among authors: bertini e. Am J Med Genet. 1988 Jan;29(1):1-8. doi: 10.1002/ajmg.1320290102. Am J Med Genet. 1988. PMID: 3344762

9

Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings.

Bertini E, Salviati G, Apollo F, Ricci E, Servidei S, Broccolini A, Papacci M, Tonali P. Bertini E, et al. Acta Neuropathol. 1994;87(1):106-12. doi: 10.1007/BF00386261. Acta Neuropathol. 1994. PMID: 8140891

10

Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments.

Bertini E, Bosman C, Salviati G, Boldrini R, Servidei S, Ricci E, Del Nonno F, Gagliardi MG, Bevilacqua M. Bertini E, et al. Virchows Arch A Pathol Anat Histopathol. 1993;422(4):327-31. doi: 10.1007/BF01608343. Virchows Arch A Pathol Anat Histopathol. 1993. PMID: 8506626

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