Bertini E - Search Results

1

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.

2

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle.

Sabatelli M, Bertini E, Ricci E, Salviati G, Magi S, Papacci M, Tonali P. Sabatelli M, et al. Among authors: bertini e. J Neurol Sci. 1992 May;109(1):1-10. doi: 10.1016/0022-510x(92)90086-z. J Neurol Sci. 1992. PMID: 1517757 Review.

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

Giant axonal neuropathy: report on a case with focal fiber loss.

Sabatelli M, Bertini E, Servidei S, Fernandez E, Magi S, Tonali P. Sabatelli M, et al. Among authors: bertini e. Acta Neuropathol. 1992;83(5):543-6. doi: 10.1007/BF00310034. Acta Neuropathol. 1992. PMID: 1621511

6

New clinical phenotype of branched-chain acyl-CoA oxidation defect.

Burlina A, Zacchello F, Dionisi-Vici C, Bertini E, Sabetta G, Bennet MJ, Hale DE, Schmidt-Sommerfeld E, Rinaldo P. Burlina A, et al. Among authors: bertini e. Lancet. 1991 Dec 14;338(8781):1522-3. doi: 10.1016/0140-6736(91)92338-3. Lancet. 1991. PMID: 1683940 No abstract available.

7

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

8

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.

9

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

10

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

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