Bertini E - Search Results

1

'Behr syndrome' with OPA1 compound heterozygote mutations.

Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E. Carelli V, et al. Among authors: bertini e. Brain. 2015 Jan;138(Pt 1):e321. doi: 10.1093/brain/awu234. Epub 2014 Aug 21. Brain. 2015. PMID: 25146916 Free PMC article. No abstract available.

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

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

5

Autosomal recessive hypermyelinating neuropathy.

Sabatelli M, Mignogna T, Lippi G, Servidei S, Manfredi G, Ricci E, Bertini E, Lo Monaco M, Tonali P. Sabatelli M, et al. Among authors: bertini e. Acta Neuropathol. 1994;87(4):337-42. doi: 10.1007/BF00313601. Acta Neuropathol. 1994. PMID: 8017168

6

Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndrome.

Bertini E, Sabatelli M, Di Capua M, Cilio MR, Mignogna T, Federico A, Tonali P. Bertini E, et al. Eur J Paediatr Neurol. 1998;2(5):245-54. doi: 10.1016/s1090-3798(98)80038-x. Eur J Paediatr Neurol. 1998. PMID: 10726827 Review.

7

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: bertini e. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414

8

OXPHOS and mtDNA alterations in a family with spastic paraparesis.

Santorelli FM, Piemonte F, Carrozzo R, Tessa A, Patrono C, Tozzi G, Bertini E. Santorelli FM, et al. Among authors: bertini e. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522

9

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

10

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

Patrono C, Casali C, Tessa A, Cricchi F, Fortini D, Carrozzo R, Siciliano G, Bertini E, Santorelli FM. Patrono C, et al. Among authors: bertini e. J Neurol. 2002 Feb;249(2):200-5. doi: 10.1007/pl00007865. J Neurol. 2002. PMID: 11985387

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