Author/Creator: Zeviani, M - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Zeviani, M

1. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. Issue 10 (19th September 2011)

Authors:: Uusimaa, J; Jungbluth, H; Fratter, C; Crisponi, G; Feng, L; Zeviani, M; Hughes, I; Treacy, E P; Birks, J; Brown, G K; Sewry, C A; McDermott, M; Muntoni, F; Poulton, J
Journal:: Journal of medical genetics
Issue:: Volume 48:Issue 10(2011)
Page Start:: 660
Record Type:: Journal Article
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2. PAW34 Mutations in OPA1 expand the clinical phenotype of mitochondrial disease. Issue 11 (22nd October 2010)

Authors:: Chinnery, P; Jackson, M; Amati-Bonneau, P; Yu-Wai-Man, P; Gorman, G; Duffey, P; Baker, M; Zeviani, M; Horvath, R; Miller, J
Journal:: Journal of neurology, neurosurgery and psychiatry
Issue:: Volume 81:Issue 11(2010)
Page Start:: e32
Record Type:: Journal Article
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3. Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. Issue 7 (1st July 2008)

Authors:: Mineri, R; Rimoldi, M; Burlina, A B; Koskull, S; Perletti, C; Heese, B; von Döbeln, U; Mereghetti, P; Di Meo, I; Invernizzi, F; Zeviani, M; Uziel, G; Tiranti, V
Journal:: Journal of medical genetics
Issue:: Volume 45:Issue 7(2008)
Page Start:: 473
Record Type:: Journal Article
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4. ETHE1 mutations are specific to ethylmalonic encephalopathy. Issue 4 (23rd September 2005)

Authors:: Tiranti, V; Briem, E; Lamantea, E; Mineri, R; Papaleo, E; Gioia, L De; Forlani, F; Rinaldo, P; Dickson, P; Abu-Libdeh, B; Cindro-Heberle, L; Owaidha, M; Jack, R M; Christensen, E; Burlina, A; Zeviani, M
Journal:: Journal of medical genetics
Issue:: Volume 43:Issue 4(2006)
Page Start:: 340
Record Type:: Journal Article
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5. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. Issue 1 (1st July 1997)

Authors:: Uziel, G; Moroni, I; Lamantea, E; Fratta, G M; Ciceri, E; Carrara, F; Zeviani, M
Journal:: Journal of neurology, neurosurgery and psychiatry
Issue:: Volume 63:Issue 1(1997)
Page Start:: 16
Record Type:: Journal Article
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6. P12 A novel model of cardiomyopathy reveals a tissue specific role for the complex i assembly factor ecsit. (21st March 2018)

Authors:: Nicol, T; Falcone, S; Blease, A; Scudamore, C; Hirst, J; Viscomi, C; Zeviani, M; Brown, SDM; Potter, PK
Journal:: Heart
Issue:: Volume 104(2018)Supplement 3
Page Start:: A6
Record Type:: Journal Article
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7. Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome. Issue 5 (30th April 2004)

Authors:: Limongelli, A; Schaefer, J; Jackson, S; Invernizzi, F; Kirino, Y; Suzuki, T; Reichmann, H; Zeviani, M
Journal:: Journal of medical genetics
Issue:: Volume 41:Issue 5(2004)
Page Start:: 342
Record Type:: Journal Article
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8. Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations. Issue 1 (4th January 2008)

Authors:: Tuppen, H A L; Fattori, F; Carrozzo, R; Zeviani, M; DiMauro, S; Seneca, S; Martindale, J E; Olpin, S E; Treacy, E P; McFarland, R; Santorelli, F M; Taylor, R W
Journal:: Journal of medical genetics
Issue:: Volume 45:Issue 1(2008)
Page Start:: 55
Record Type:: Journal Article
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9. The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy. Issue 4 (1st April 2003)

Authors:: Man, P Y W; Morris, C M; Zeviani, M; Carrara, F; Turnbull, D M; Chinnery, P F
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 4(2003)
Page Start:: e41
Record Type:: Journal Article
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10. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. Issue 5 (29th April 2005)

Authors:: Bugiani, M; Tiranti, V; Farina, L; Uziel, G; Zeviani, M
Journal:: Journal of medical genetics
Issue:: Volume 42:Issue 5(2005)
Page Start:: e28
Record Type:: Journal Article
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