खोज परिणाम - Nasca, Alessia

  • प्रदर्शित 1 - 17 परिणाम 17
परिणाम को परिष्कृत करें
  1. 1
    A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

    A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions द्वारा Melchionda, Laura, Damseh, Nadirah S., Abu Libdeh, Bassam Y., Nasca, Alessia, Elpeleg, Orly, Zanolini, Alice, Ghezzi, Daniele

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  2. 2
    Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

    Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy द्वारा Nasca, Alessia, Legati, Andrea, Baruffini, Enrico, Nolli, Cecilia, Moroni, Isabella, Ardissone, Anna, Goffrini, Paola, Ghezzi, Daniele

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  3. 3
    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 द्वारा Nasca, Alessia, Nardecchia, Francesca, Commone, Anna, Semeraro, Michela, Legati, Andrea, Garavaglia, Barbara, Ghezzi, Daniele, Leuzzi, Vincenzo

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  4. 4
    Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo

    Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo द्वारा McNeill, Nathan, Nasca, Alessia, Reyes, Aurelio, Lemoine, Benjamin, Cantarel, Brandi, Vanderver, Adeline, Schiffmann, Raphael, Ghezzi, Daniele

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  5. 5
    A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

    A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy द्वारा Bee, Leonardo, Nasca, Alessia, Zanolini, Alice, Cendron, Filippo, d'Adamo, Pio, Costa, Rodolfo, Lamperti, Costanza, Celotti, Lucia, Ghezzi, Daniele, Zeviani, Massimo

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  6. 6
    Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

    Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3 द्वारा Invernizzi, Federica, Legati, Andrea, Nasca, Alessia, Lamantea, Eleonora, Garavaglia, Barbara, Gusic, Mirjana, Kopajtich, Robert, Prokisch, Holger, Zeviani, Massimo, Lamperti, Costanza, Ghezzi, Daniele

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  7. 7
    Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

    Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation द्वारा Cavestro, Chiara, Panteghini, Celeste, Reale, Chiara, Nasca, Alessia, Fenu, Silvia, Salsano, Ettore, Chiapparini, Luisa, Garavaglia, Barbara, Pareyson, Davide, Di Meo, Ivano, Tiranti, Valeria

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  8. 8
    Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions

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

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  9. 9
    RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

    RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy द्वारा Reyes, Aurelio, Melchionda, Laura, Nasca, Alessia, Carrara, Franco, Lamantea, Eleonora, Zanolini, Alice, Lamperti, Costanza, Fang, Mingyan, Zhang, Jianguo, Ronchi, Dario, Bonato, Sara, Fagiolari, Gigliola, Moggio, Maurizio, Ghezzi, Daniele, Zeviani, Massimo

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  10. 10
    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 द्वारा Alahmad, Ahmad, Nasca, Alessia, Heidler, Juliana, Thompson, Kyle, Oláhová, Monika, Legati, Andrea, Lamantea, Eleonora, Meisterknecht, Jana, Spagnolo, Manuela, He, Langping, Alameer, Seham, Hakami, Fahad, Almehdar, Abeer, Ardissone, Anna, Alston, Charlotte L, McFarland, Robert, Wittig, Ilka, Ghezzi, Daniele, Taylor, Robert W

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  11. 11
    The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

    The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells द्वारा Perli, Elena, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Campese, Antonio F, Reyes, Aurelio, Ghezzi, Daniele, Nasca, Alessia, Tuppen, Helen A, Orlandi, Maurizia, Di Micco, Patrizio, Poser, Elena, Taylor, Robert W, Colotti, Gianni, Francisci, Silvia, Morea, Veronica, Frontali, Laura, Zeviani, Massimo, d'Amati, Giulia

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  12. 12
    VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

    VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies द्वारा Diodato, Daria, Melchionda, Laura, Haack, Tobias B, Dallabona, Cristina, Baruffini, Enrico, Donnini, Claudia, Granata, Tiziana, Ragona, Francesca, Balestri, Paolo, Margollicci, Maria, Lamantea, Eleonora, Nasca, Alessia, Powell, Christopher A, Minczuk, Michal, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Lamperti, Costanza, Zeviani, Massimo, Ghezzi, Daniele

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  13. 13
    Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

    Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia द्वारा Nasca, Alessia, Scotton, Chiara, Zaharieva, Irina, Neri, Marcella, Selvatici, Rita, Magnusson, Olafur Thor, Gal, Aniko, Weaver, David, Rossi, Rachele, Armaroli, Annarita, Pane, Marika, Phadke, Rahul, Sarkozy, Anna, Muntoni, Francesco, Hughes, Imelda, Cecconi, Antonella, Hajnóczky, György, Donati, Alice, Mercuri, Eugenio, Zeviani, Massimo, Ferlini, Alessandra, Ghezzi, Daniele

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  14. 14
    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 द्वारा Nasca, Alessia, Rizza, Teresa, Doimo, Mara, Legati, Andrea, Ciolfi, Andrea, Diodato, Daria, Calderan, Cristina, Carrara, Gianfranco, Lamantea, Eleonora, Aiello, Chiara, Di Nottia, Michela, Niceta, Marcello, Lamperti, Costanza, Ardissone, Anna, Bianchi-Marzoli, Stefania, Iarossi, Giancarlo, Bertini, Enrico, Moroni, Isabella, Tartaglia, Marco, Salviati, Leonardo, Carrozzo, Rosalba, Ghezzi, Daniele

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  15. 15
    ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

    ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy द्वारा Caporali, Leonardo, Magri, Stefania, Legati, Andrea, Del Dotto, Valentina, Tagliavini, Francesca, Balistreri, Francesca, Nasca, Alessia, La Morgia, Chiara, Carbonelli, Michele, Valentino, Maria L., Lamantea, Eleonora, Baratta, Silvia, Schöls, Ludger, Schüle, Rebecca, Barboni, Piero, Cascavilla, Maria L., Maresca, Alessandra, Capristo, Mariantonietta, Ardissone, Anna, Pareyson, Davide, Cammarata, Gabriella, Melzi, Lisa, Zeviani, Massimo, Peverelli, Lorenzo, Lamperti, Costanza, Marzoli, Stefania B., Fang, Mingyan, Synofzik, Matthis, Ghezzi, Daniele, Carelli, Valerio, Taroni, Franco

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  16. 16
    Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

    Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia द्वारा Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Vargas Parra, Karen, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M., Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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    में बचाया:
  17. 17
    Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

    Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults द्वारा Charif, Majida, Nasca, Alessia, Thompson, Kyle, Gerber, Sylvie, Makowski, Christine, Mazaheri, Neda, Bris, Céline, Goudenège, David, Legati, Andrea, Maroofian, Reza, Shariati, Gholamreza, Lamantea, Eleonora, Hopton, Sila, Ardissone, Anna, Moroni, Isabella, Giannotta, Melania, Siegel, Corinna, Strom, Tim M., Prokisch, Holger, Vignal-Clermont, Catherine, Derrien, Sabine, Zanlonghi, Xavier, Kaplan, Josseline, Hamel, Christian P., Leruez, Stephanie, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, White, Frances E., Hardy, Steven A., Barbosa, Inês A., Simpson, Michael A., Vara, Roshni, Perdomo Trujillo, Yaumara, Galehdari, Hamind, Deshpande, Charu, Haack, Tobias B., Rozet, Jean-Michel, Taylor, Robert W., Ghezzi, Daniele, Amati-Bonneau, Patrizia, Lenaers, Guy

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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