Hasil Pencarian - Anna Ardissone

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  1. 1
    Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

    Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance oleh Anna Ardissone, Federica Invernizzi, Alessia Nasca, Isabella Moroni, Laura Farina, Daniele Ghezzi

    Diterbitkan 2015-12-01
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  2. 2
    Postural Control in Children with Cerebellar Ataxia

    Postural Control in Children with Cerebellar Ataxia oleh Veronica Farinelli, Chiara Palmisano, Silvia Maria Marchese, Camilla Mirella Maria Strano, Stefano D’Arrigo, Chiara Pantaleoni, Anna Ardissone, Nardo Nardocci, Roberto Esposti, Paolo Cavallari

    Diterbitkan 2020-02-01
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  3. 3
    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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  4. 4
    Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

    Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases oleh Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili, Enrico Bertini, Isabella Moroni

    Diterbitkan 2021-10-01
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  5. 5
    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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  6. 6
    A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

    A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly oleh Michela Di Nottia, Maria Marchese, Daniela Verrigni, Christian Daniel Mutti, Alessandra Torraco, Romina Oliva, Erika Fernandez-Vizarra, Federica Morani, Giulia Trani, Teresa Rizza, Daniele Ghezzi, Anna Ardissone, Claudia Nesti, Gessica Vasco, Massimo Zeviani, Michal Minczuk, Enrico Bertini, Filippo Maria Santorelli, Rosalba Carrozzo

    Diterbitkan 2020-07-01
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  7. 7
    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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  8. 8
    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? oleh Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann

    Diterbitkan 2018-07-01
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