Lamantea E - Search Results

1

Cerebral white matter involvement in children with mitochondrial encephalopathies.

Moroni I, Bugiani M, Bizzi A, Castelli G, Lamantea E, Uziel G. Moroni I, et al. Among authors: lamantea e. Neuropediatrics. 2002 Apr;33(2):79-85. doi: 10.1055/s-2002-32372. Neuropediatrics. 2002. PMID: 12075488

2

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S. Taroni F, et al. Among authors: lamantea e. Proc Natl Acad Sci U S A. 1992 Sep 15;89(18):8429-33. doi: 10.1073/pnas.89.18.8429. Proc Natl Acad Sci U S A. 1992. PMID: 1528846 Free PMC article.

3

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

Munaro M, Tiranti V, Sandonà D, Lamantea E, Uziel G, Bisson R, Zeviani M. Munaro M, et al. Among authors: lamantea e. Hum Mol Genet. 1997 Feb;6(2):221-8. doi: 10.1093/hmg/6.2.221. Hum Mol Genet. 1997. PMID: 9063742

4

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.

Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Uziel G, et al. Among authors: lamantea e. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. doi: 10.1136/jnnp.63.1.16. J Neurol Neurosurg Psychiatry. 1997. PMID: 9221962 Free PMC article.

5

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.

Di Rocco M, Caruso U, Moroni I, Lupino S, Lamantea E, Fantasia AR, Borrone C, Gibson KM. Di Rocco M, et al. Among authors: lamantea e. J Inherit Metab Dis. 1999 Jun;22(5):593-8. doi: 10.1023/a:1005565610613. J Inherit Metab Dis. 1999. PMID: 10399091

6

Leigh syndrome transmitted by uniparental disomy of chromosome 9.

Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi M, Fried M. Tiranti V, et al. Among authors: lamantea e. J Med Genet. 1999 Dec;36(12):927-8. J Med Genet. 1999. PMID: 10636738 Free PMC article. No abstract available.

7

Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.

Uziel G, Carrara F, Granata T, Lamantea E, Mora M, Zeviani M. Uziel G, et al. Among authors: lamantea e. Neuromuscul Disord. 2000 Aug;10(6):415-8. doi: 10.1016/s0960-8966(99)00115-7. Neuromuscul Disord. 2000. PMID: 10899447

8

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M. Tiranti V, et al. Among authors: lamantea e. Hum Mol Genet. 2000 Nov 1;9(18):2733-42. doi: 10.1093/hmg/9.18.2733. Hum Mol Genet. 2000. PMID: 11063732

9

Neuronal ceroid lipofuscinosis: detection of atypical forms.

Nardocci N, Morbin M, Bugiani M, Lamantea E, Bugiani O. Nardocci N, et al. Among authors: lamantea e. Neurol Sci. 2000;21(3 Suppl):S57-61. doi: 10.1007/s100720070041. Neurol Sci. 2000. PMID: 11073229

10

Epileptic phenotypes associated with mitochondrial disorders.

Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M, Avanzini G. Canafoglia L, et al. Among authors: lamantea e. Neurology. 2001 May 22;56(10):1340-6. doi: 10.1212/wnl.56.10.1340. Neurology. 2001. PMID: 11376185

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