Search Results - "BUCCHI, Laura"

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  1. 1
    The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

    The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy by Valentino, Maria Lucia, Barboni, Piero, Ghelli, Anna, Bucchi, Laura, Rengo, Chiara, Achilli, Alessandro, Torroni, Antonio, Lugaresi, Alessandra, Lodi, Raffaele, Barbiroli, Bruno, Dotti, MariaTeresa, Federico, Antonio, Baruzzi, Agostino, Carelli, Valerio

    Published in Annals of neurology (01-11-2004)
    “…A novel mitochondrial DNA (mtDNA) transition (3733G→A) inducing the E143 K amino acid change at a very conserved site of the NADH dehydrogenase subunit 1 (ND1)…”
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  2. 2
    A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16

    A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16 by CARELLI, Valerio, SCHIMPF, Simone, BARBONI, Piero, LONGANESI, Lora, RUGOLO, Michela, GHELLI, Anna, ALAVI, Marcel V, YOULE, Richard J, BUCCHI, Laura, CARROCCIA, Rosanna, PIA GIANNOCCARO, Maria, TONON, Caterina, FUHRMANN, Nico, LODI, Raffaele, CENACCHI, Giovanna, MONTAGNA, Pasquale, LIGUORI, Rocco, WISSINGER, Bernd, VALENTINO, Maria Lucia, ZANNA, Claudia, LOMMARINI, Luisa, PAPKE, Monika, SCHAICH, Simone, TIPPMANN, Sabine, BAUMANN, Britta

    Published in Human molecular genetics (15-05-2011)
    “…Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3 genes, both encoding for…”
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  3. 3
    Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy

    Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy by Carelli, Valerio, Vergani, Lodovica, Bernazzi, Barbara, Zampieron, Claudia, Bucchi, Laura, Valentino, Maria Lucia, Rengo, Chiara, Torroni, Antonio, Martinuzzi, Andrea

    Published in Biochimica et biophysica acta (09-10-2002)
    “…The possibility that some combinations of mtDNA polymorphisms, previously associated with Leber's hereditary optic neuropathy (LHON), may affect mitochondrial…”
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  4. 4
    Protonophoric Activity of NADH Coenzyme Q Reductase and ATP Synthase in Coupled Submitochondrial Particles from Horse Platelets

    Protonophoric Activity of NADH Coenzyme Q Reductase and ATP Synthase in Coupled Submitochondrial Particles from Horse Platelets by Baracca, Alessandra, Bucchi, Laura, Ghelli, Anna, Lenaz, Giorgio

    “…A method to prepare coupled submitochondrial particles from horse platelets is described. The method allowed us to study the protonophoric activities of both…”
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