Search Results - Elena Parrini

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    Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants by Norman Panza, Claudia Bianchini, Valentina Cetica, Simona Balestrini, Carmen Barba, Anna Rita Ferrari, Davide Mei, Lucio Parmeggiani, Elena Parrini, Renzo Guerrini

    Published in Epilepsia Open (2024-02-01)
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  2. 2

    Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature by Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi

    Published in Endocrine Connections (2024-10-01)
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  3. 3

    De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism by Martina Riva, Sofia Ferreira, Kotaro Hayashi, Yoann Saillour, Vera P. Medvedeva, Takao Honda, Kanehiro Hayashi, Claire Altersitz, Shahad Albadri, Marion Rosello, Julie Dang, Malo Serafini, Frédéric Causeret, Olivia J. Henry, Charles-Joris Roux, Céline Bellesme, Elena Freri, Dragana Josifova, Elena Parrini, Renzo Guerrini, Filippo Del Bene, Kazunori Nakajima, Nadia Bahi-Buisson, Alessandra Pierani

    Published in The Journal of Clinical Investigation (2024-08-01)
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