Bertini E - Search Results

1

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.

Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM. Grieco GS, et al. Among authors: bertini e. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77. Neurology. 2004. PMID: 14718707

2

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

Leuzzi V, Bertini E, De Negri AM, Gallucci M, Garavaglia B. Leuzzi V, et al. Among authors: bertini e. J Neurol Neurosurg Psychiatry. 1992 Jan;55(1):16-9. doi: 10.1136/jnnp.55.1.16. J Neurol Neurosurg Psychiatry. 1992. PMID: 1548491 Free PMC article.

3

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Among authors: bertini e. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

4

Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophy.

Restuccia D, Di Lazzaro V, Valeriani M, Oliviero A, Le Pera D, Barba C, Cappa M, Bertini E, Di Capua M, Tonali P. Restuccia D, et al. Among authors: bertini e. Neurology. 1999 Mar 10;52(4):810-6. doi: 10.1212/wnl.52.4.810. Neurology. 1999. PMID: 10078732

5

[Diagnosis of mitochondrial cardiomyopathies: the need for a multidisciplinary approach].

Santorelli FM, Bertini E. Santorelli FM, et al. Among authors: bertini e. G Ital Cardiol. 1999 Oct;29(10):1181-3. G Ital Cardiol. 1999. PMID: 10546130 Italian. No abstract available.

6

HyperCKemia as the only sign of McArdle's disease in a child.

Bruno C, Bertini E, Santorelli FM, DiMauro S. Bruno C, et al. Among authors: bertini e. J Child Neurol. 2000 Feb;15(2):137-8. doi: 10.1177/088307380001500216. J Child Neurol. 2000. PMID: 10695902

7

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.

8

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

9

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

10

X-linked congenital ataxia: a clinical and genetic study.

Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J. Bertini E, et al. Am J Med Genet. 2000 May 1;92(1):53-6. Am J Med Genet. 2000. PMID: 10797423

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