Lamantea E - Search Results

1

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Horvath R, et al. Among authors: lamantea e. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917

2

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions.

Frascarelli C, Zanetti N, Nasca A, Izzo R, Lamperti C, Lamantea E, Legati A, Ghezzi D. Frascarelli C, et al. Among authors: lamantea e. Front Genet. 2023 Jun 29;14:1089956. doi: 10.3389/fgene.2023.1089956. eCollection 2023. Front Genet. 2023. PMID: 37456669 Free PMC article.

3

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.

Colucci F, Neri M, Fortunato F, Ferlini A, Carrozzo R, Torraco A, Lamantea E, Legati A, Tecilla G, Pugliatti M, Sensi M. Colucci F, et al. Among authors: lamantea e. Cerebellum. 2023 Dec;22(6):1313-1319. doi: 10.1007/s12311-022-01497-y. Epub 2022 Nov 30. Cerebellum. 2023. PMID: 36447112

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

A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.

Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E, Zeviani M. Tiranti V, et al. Among authors: lamantea e. Neuromuscul Disord. 1999 Mar;9(2):66-71. doi: 10.1016/s0960-8966(98)00103-5. Neuromuscul Disord. 1999. PMID: 10220860

6

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

7

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.

Corona P, Antozzi C, Carrara F, D'Incerti L, Lamantea E, Tiranti V, Zeviani M. Corona P, et al. Among authors: lamantea e. Ann Neurol. 2001 Jan;49(1):106-10. doi: 10.1002/1531-8249(200101)49:1<106::aid-ana16>3.0.co;2-t. Ann Neurol. 2001. PMID: 11198278

8

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

9

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M. Lamantea E, et al. Neuromuscul Disord. 2002 Jan;12(1):49-52. doi: 10.1016/s0960-8966(01)00244-9. Neuromuscul Disord. 2002. PMID: 11731284

10

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.

Corona P, Lamantea E, Greco M, Carrara F, Agostino A, Guidetti D, Dotti MT, Mariotti C, Zeviani M. Corona P, et al. Among authors: lamantea e. Ann Neurol. 2002 Jan;51(1):118-22. doi: 10.1002/ana.10059. Ann Neurol. 2002. PMID: 11782991

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