Hasil Pencarian - Francesca Cavalcanti

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  1. 1
    The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives

    The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives oleh Luigi Citrigno, Maria Muglia, Antonio Qualtieri, Patrizia Spadafora, Francesca Cavalcanti, Giovanni Pioggia, Antonio Cerasa

    Diterbitkan 2020-08-01
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  2. 2
    A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B

    A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B oleh Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti, Gemma Di Palma, Olivier Gallo, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno

    Diterbitkan 2022-08-01
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  3. 3
    Molecular Study of the Fukutin-Related Protein (<i>FKRP</i>) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype

    Molecular Study of the Fukutin-Related Protein (<i>FKRP</i>) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype oleh Antonio Qualtieri, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno, Gemma Di Palma, Olivier Gallo, Francesca Cavalcanti, Patrizia Spadafora

    Diterbitkan 2024-09-01
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  4. 4
    The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions

    The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions oleh Annamaria Cerantonio, Luigi Citrigno, Beatrice Maria Greco, Selene De Benedittis, Giuseppe Passarino, Raffaele Maletta, Antonio Qualtieri, Alberto Montesanto, Patrizia Spadafora, Francesca Cavalcanti

    Diterbitkan 2024-05-01
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  5. 5
    Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

    Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report oleh Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia

    Diterbitkan 2019-03-01
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  6. 6
    Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

    Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare oleh Sahar Al-Mahdawi, Sahar Al-Mahdawi, Heather Ging, Aurelien Bayot, Francesca Cavalcanti, Valentina La Cognata, Sebastiano Cavallaro, Paola Giunti, Mark A. Pook, Mark A. Pook

    Diterbitkan 2018-11-01
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  7. 7
    Interruptions of the <i>FXN</i> GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

    Interruptions of the <i>FXN</i> GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner oleh Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti

    Diterbitkan 2021-07-01
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