Bertini E - Search Results

1

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. Tiranti V, et al. Among authors: bertini e. Am J Hum Genet. 1998 Dec;63(6):1609-21. doi: 10.1086/302150. Am J Hum Genet. 1998. PMID: 9837813 Free PMC article.

2

Fatal infantile liver failure associated with mitochondrial DNA depletion.

Mazziotta MR, Ricci E, Bertini E, Dionisi Vici C, Servidei S, Burlina AB, Sabetta G, Bartuli A, Manfredi G, Silvestri G, et al. Mazziotta MR, et al. Among authors: bertini e. J Pediatr. 1992 Dec;121(6):896-901. doi: 10.1016/s0022-3476(05)80335-x. J Pediatr. 1992. PMID: 1447652 Free article.

3

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections.

Bertini E, Cusmai R, de Saint Basile G, Le Deist F, Di Capua M, Gaggero DR, Dionisi-Vici C, Santillo C, Caniglia M. Bertini E, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):443-51. doi: 10.1002/ajmg.1320430167. Am J Med Genet. 1992. PMID: 1605224

4

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.

Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetti M. Uziel G, et al. Among authors: bertini e. Dev Neurosci. 1991;13(4-5):274-9. doi: 10.1159/000112173. Dev Neurosci. 1991. PMID: 1817033 Clinical Trial.

5

[Diet therapy with erucic acid in patients with X-linked adrenoleukodystrophy].

Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetti M. Uziel G, et al. Among authors: bertini e. Minerva Pediatr. 1991 Mar;43(3):127-31. Minerva Pediatr. 1991. PMID: 1870507 Italian. No abstract available.

6

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, Di Mauro S, Di Donato S, Tonali P. Servidei S, et al. Among authors: bertini e. Neurology. 1991 Jul;41(7):1053-9. doi: 10.1212/wnl.41.7.1053. Neurology. 1991. PMID: 2067633

7

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. Zeviani M, et al. Among authors: bertini e. Nature. 1989 May 25;339(6222):309-11. doi: 10.1038/339309a0. Nature. 1989. PMID: 2725645

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

Presymptomatic diagnosis of SMA III by genotype analysis.

Brahe C, Zappata S, Velonà I, Bertini E, Servidei S, Tonali P, Neri G. Brahe C, et al. Among authors: bertini e. Am J Med Genet. 1993 Feb 1;45(3):408-11. doi: 10.1002/ajmg.1320450331. Am J Med Genet. 1993. PMID: 8434634

10

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

Caruso U, Adami A, Bertini E, Burlina AB, Carnevale F, Cerone R, Dionisi-Vici C, Giordano G, Leuzzi E, Parenti G, Savasta S, Uziel G, Zeviani M. Caruso U, et al. Among authors: bertini e. J Inherit Metab Dis. 1996;19(2):143-8. doi: 10.1007/BF01799415. J Inherit Metab Dis. 1996. PMID: 8739951 Review. No abstract available.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

934 results

Search Page

Filters