Bertini E - Search Results

1

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

Carrozzo R, Tessa A, Vázquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schägger H, Federico A, Bertini E, Santorelli FM. Carrozzo R, et al. Among authors: bertini e. Neurology. 2001 Mar 13;56(5):687-90. doi: 10.1212/wnl.56.5.687. Neurology. 2001. PMID: 11245730

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

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.

Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S. Bertini E, et al. Eur J Pediatr. 1992 Feb;151(2):121-6. doi: 10.1007/BF01958956. Eur J Pediatr. 1992. PMID: 1537353

4

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

5

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Dionisi Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MR, Zacchello F, Sabetta G, Hale DE. Dionisi Vici C, et al. Among authors: bertini e. J Pediatr. 1991 May;118(5):744-6. doi: 10.1016/s0022-3476(05)80039-3. J Pediatr. 1991. PMID: 2019931 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

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

8

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

9

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

10

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.

Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F, et al. Burlina AB, et al. Among authors: bertini e. J Pediatr. 1994 Jan;124(1):79-86. doi: 10.1016/s0022-3476(94)70257-8. J Pediatr. 1994. PMID: 8283379

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