Search Results - Elisa Calì

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  1. 1

    P135: Recurrent variants in subunits of the human mediator complex affect brain development and lead to severe neurodegenerative diseases by Elisa Cali

    Published in Genetics in Medicine Open (2023-01-01)
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  2. 2

    P133: A homozygous recurrent in-frame deletion in MED22 causes a novel neurodevelopmental disorder by Elisa Cali

    Published in Genetics in Medicine Open (2023-01-01)
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  3. 3

    P134: Biallelic pathogenic variants in ITFG2 are associated with a a syndromic megalencephalic neurodevelopmental syndrome by Elisa Cali

    Published in Genetics in Medicine Open (2023-01-01)
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  4. 4

    Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery by Elisa Cali, Clarissa Rocca, Vincenzo Salpietro, Henry Houlden

    Published in Frontiers in Neurology (2022-01-01)
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  5. 5

    Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome by Celeste Casto, Valeria Dipasquale, Ida Ceravolo, Antonella Gambadauro, Emanuela Aliberto, Karol Galletta, Francesca Granata, Giorgia Ceravolo, Emanuela Falzia, Antonella Riva, Gianluca Piccolo, Maria Concetta Cutrupi, Pasquale Striano, Andrea Accogli, Federico Zara, Gabriella Di Rosa, Eloisa Gitto, Elisa Calì, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden, Roberto Chimenz

    Published in Brain Sciences (2021-08-01)
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  6. 6

    Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders by Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro

    Published in Orphanet Journal of Rare Diseases (2022-07-01)
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