Hasil Pencarian - Andrea Legati

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  1. 1
    Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

    Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders oleh Andrea Legati, Edoardo Giacopuzzi, Edoardo Giacopuzzi, Marco Spinazzi, Monkol Lek

    Diterbitkan 2021-07-01
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  2. 2
    A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

    A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies oleh Daniele Sala, Silvia Marchet, Lorenzo Nanetti, Andrea Legati, Caterina Mariotti, Eleonora Lamantea, Daniele Ghezzi, Alessia Catania, Costanza Lamperti

    Diterbitkan 2024-05-01
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  3. 3
    Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions

    Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions oleh Chiara Frascarelli, Nadia Zanetti, Alessia Nasca, Rossella Izzo, Costanza Lamperti, Eleonora Lamantea, Andrea Legati, Daniele Ghezzi, Daniele Ghezzi

    Diterbitkan 2023-06-01
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  4. 4
    Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

    Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration oleh Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Daniele Ghezzi, Vincenzo Leuzzi

    Diterbitkan 2018-12-01
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  5. 5
    Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson’s syndrome

    Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson’s syndrome oleh Camille Peron, Roberta Mauceri, Angelo Iannielli, Andrea Cavaliere, Andrea Legati, Ambra Rizzo, Francesca L. Sciacca, Vania Broccoli, Valeria Tiranti

    Diterbitkan 2021-01-01
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  6. 6
    Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study

    Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study oleh Chiara Reale, Valeria Tessarollo, Sara Bulgheroni, Silvia Annunziata, Andrea Legati, Daria Riva, Chiara Pantaleoni, Barbara Garavaglia, Stefano D’Arrigo

    Diterbitkan 2021-08-01
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  7. 7
    Biallelic Variants in <i>ENDOG</i> Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions

    Biallelic Variants in <i>ENDOG</i> Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions oleh Alessia Nasca, Andrea Legati, Megi Meneri, Melisa Emel Ermert, Chiara Frascarelli, Nadia Zanetti, Manuela Garbellini, Giacomo Pietro Comi, Alessia Catania, Costanza Lamperti, Dario Ronchi, Daniele Ghezzi

    Diterbitkan 2022-03-01
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  8. 8
    Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A

    Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A oleh Camille Peron, Andrea Cavaliere, Chiara Fasano, Angelo Iannielli, Manuela Spagnolo, Andrea Legati, Maria Nicol Colombo, Ambra Rizzo, Francesca L. Sciacca, Valerio Carelli, Vania Broccoli, Costanza Lamperti, Valeria Tiranti

    Diterbitkan 2024-06-01
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  9. 9
    KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

    KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature oleh Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi

    Diterbitkan 2018-04-01
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  10. 10
    De Novo <i>DNM1L</i> Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting

    De Novo <i>DNM1L</i> Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting oleh Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo

    Diterbitkan 2024-07-01
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  11. 11
    Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

    Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I oleh Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor

    Diterbitkan 2020-11-01
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  12. 12
    Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases

    Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases oleh Chiara Cavestro, Francesca Morra, Andrea Legati, Marco D'Amato, Alessia Nasca, Arcangela Iuso, Naomi Lubarr, Jennifer L. Morrison, Patricia G. Wheeler, Clara Serra‐Juhé, Benjamín Rodríguez‐Santiago, Eulalia Turón‐Viñas, Clement Prouteau, Magalie Barth, Susan J. Hayflick, Daniele Ghezzi, Valeria Tiranti, Ivano Di Meo

    Diterbitkan 2024-06-01
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  13. 13
    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations oleh Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi

    Diterbitkan 2017-05-01
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