Zoekresultaten - Ardissone, Anna

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  1. 1
    Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene

    Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene door Ardissone, Anna, Moroni, Isabella, Bernasconi, Pia, Brugnoni, Raffaella

    Gepubliceerd in 2017
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  2. 2
    Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

    Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations door Invernizzi, Federica, Ardissone, Anna, Lamantea, Eleonora, Garavaglia, Barbara, Zeviani, Massimo, Farina, Laura, Ghezzi, Daniele, Moroni, Isabella

    Gepubliceerd in 2014
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  3. 3
    Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

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

    Gepubliceerd in 2016
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  4. 4
    Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature

    Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature door Ardissone, Anna, Granata, Tiziana, Legati, Andrea, Diodato, Daria, Melchionda, Laura, Lamantea, Eleonora, Garavaglia, Barbara, Ghezzi, Daniele, Moroni, Isabella

    Gepubliceerd in 2015
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  5. 5
    Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK

    Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK door Saredi, Simona, Cauley, Edmund S., Ruggieri, Alessandra, Spivey, Tyler M., Ardissone, Anna, Mora, Marina, Moroni, Isabella, Manzini, M. Chiara

    Gepubliceerd in 2020
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  6. 6
    Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

    Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy door Ardissone, Anna, Bragato, Cinzia, Caffi, Lorella, Blasevich, Flavia, Maestrini, Sabrina, Bianchi, Maria Luisa, Morandi, Lucia, Moroni, Isabella, Mora, Marina

    Gepubliceerd in 2013
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  7. 7
    COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

    COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency door Martinez Lyons, Anabel, Ardissone, Anna, Reyes, Aurelio, Robinson, Alan J, Moroni, Isabella, Ghezzi, Daniele, Fernandez-Vizarra, Erika, Zeviani, Massimo

    Gepubliceerd in 2016
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  8. 8
    A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

    A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature door Ardissone, Anna, Lamantea, Eleonora, Quartararo, Jade, Dallabona, Cristina, Carrara, Franco, Moroni, Isabella, Donnini, Claudia, Garavaglia, Barbara, Zeviani, Massimo, Uziel, Graziella

    Gepubliceerd in 2015
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  9. 9
    A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

    A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders door Ardissone, Anna, Piscosquito, Giuseppe, Legati, Andrea, Langella, Tiziana, Lamantea, Eleonora, Garavaglia, Barbara, Salsano, Ettore, Farina, Laura, Moroni, Isabella, Pareyson, Davide, Ghezzi, Daniele

    Gepubliceerd in 2015
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  10. 10
    Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration

    Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration door Russo, Camilla, Ardissone, Anna, Freri, Elena, Gasperini, Serena, Moscatelli, Marco, Zorzi, Giovanna, Panteghini, Celeste, Castellotti, Barbara, Garavaglia, Barbara, Nardocci, Nardo, Chiapparini, Luisa

    Gepubliceerd in 2018
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  11. 11
    Validation of the Italian version of the pediatric CMT quality of life outcome measure

    Validation of the Italian version of the pediatric CMT quality of life outcome measure door Moroni, Isabella, Danti, Federica Rachele, Pareyson, Davide, Pagliano, Emanuela, Piscosquito, Giuseppe, Foscan, Maria, Marchi, Alessia, Ardissone, Anna, Genitrini, Silvia, Wu, Tong Tong, Shy, Michael E, Ramchandren, Sindhu

    Gepubliceerd in 2022
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  12. 12
    SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

    SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy door Mancuso, Michelangelo, La Morgia, Chiara, Valentino, Maria Lucia, Ardissone, Anna, Lamperti, Costanza, Procopio, Elena, Garone, Caterina, Siciliano, Gabriele, Musumeci, Olimpia, Toscano, Antonio, Primiano, Guido, Servidei, Serenella, Carelli, Valerio

    Gepubliceerd in 2021
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  13. 13
    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 door Ardissone, Anna, Tonduti, Davide, Legati, Andrea, Lamantea, Eleonora, Barone, Rita, Dorboz, Imen, Boespflug-Tanguy, Odile, Nebbia, Gabriella, Maggioni, Marco, Garavaglia, Barbara, Moroni, Isabella, Farina, Laura, Pichiecchio, Anna, Orcesi, Simona, Chiapparini, Luisa, Ghezzi, Daniele

    Gepubliceerd in 2018
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  14. 14
    Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis

    Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis door Catania, Alessia, Ardissone, Anna, Verrigni, Daniela, Legati, Andrea, Reyes, Aurelio, Lamantea, Eleonora, Diodato, Daria, Tonduti, Davide, Imperatore, Valentina, Pinto, Anna Maria, Moroni, Isabella, Bertini, Enrico, Robinson, Alan, Carrozzo, Rosalba, Zeviani, Massimo, Ghezzi, Daniele

    Gepubliceerd in 2018
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  15. 15
    Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

    Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability door Tatton-Brown, Katrina, Loveday, Chey, Yost, Shawn, Clarke, Matthew, Ramsay, Emma, Zachariou, Anna, Elliott, Anna, Wylie, Harriet, Ardissone, Anna, Rittinger, Olaf, Stewart, Fiona, Temple, I. Karen, Cole, Trevor, Mahamdallie, Shazia, Seal, Sheila, Ruark, Elise, Rahman, Nazneen

    Gepubliceerd in 2017
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  16. 16
    A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C

    A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C door Bremova‐Ertl, Tatiana, Abel, Larry, Walterfang, Mark, Salsano, Ettore, Ardissone, Anna, Malinová, Věra, Kolníková, Miriam, Gascón Bayarri, Jordi, Reza Tavasoli, Ali, Reza Ashrafi, Mahmoud, Amraoui, Yasmina, Mengel, Eugen, Kolb, Stefan A., Brecht, Andreas, Bardins, Stanislavs, Strupp, Michael

    Gepubliceerd in 2021
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  17. 17
    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 door Ardissone, Anna, Bruno, Claudio, Diodato, Daria, Donati, Alice, Ghezzi, Daniele, Lamantea, Eleonora, Lamperti, Costanza, Mancuso, Michelangelo, Martinelli, Diego, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Santorelli, Filippo, Schiaffino, Maria Cristina, Servidei, Serenella, Tubili, Flavia, Bertini, Enrico, Moroni, Isabella

    Gepubliceerd in 2021
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  18. 18
    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 door 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

    Gepubliceerd in 2020
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  19. 19
    Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

    Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content door Tonin, Rodolfo, Caciotti, Anna, Procopio, Elena, Fischetto, Rita, Deodato, Federica, Mancardi, Maria Margherita, Di Rocco, Maja, Ardissone, Anna, Salviati, Alessandro, Marangi, Antonio, Strisciuglio, Pietro, Mangone, Giusi, Casini, Arianna, Ricci, Silvia, Fiumara, Agata, Parini, Rossella, Pavone, Francesco Saverio, Guerrini, Renzo, Calamai, Martino, Morrone, Amelia

    Gepubliceerd in 2019
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  20. 20
    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 door 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

    Gepubliceerd in 2017
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