Search Results - Natalia, Cannelli

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  1. 1
    Novel mutations in CLN8 in italian variant late infantile neuronal ceroid lipofuscinosis : another genetic hit in the Mediterranean

    Novel mutations in CLN8 in italian variant late infantile neuronal ceroid lipofuscinosis : another genetic hit in the Mediterranean by CANNELLI, Natalia, CASSANDRINI, Denise, SIMONATI, Alessandro, ZARA, Federico, SANTORELLI, Filippo M, BERTINI, Enrico, STRIANO, Pasquale, FUSCO, Lucia, GAGGERO, Roberto, SPECCHIO, Nicola, BIANCHERI, Roberta, VIGEVANO, Federico, BRUNO, Claudio

    Published in Neurogenetics
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  2. 2
    Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects

    Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects by Francesca, La Carpia, Claudia, Rendeli, Molinario, Clelia, Annamaria, Milillo, Chiara, Farroni, Natalia, Cannelli, Emanuele, Ausili, Valentina, Paolucci, Giovanni, Neri, Costantino, Romagnoli, Eugenio, Sangiorgi, Fiorella, Gurrieri

    Published in Child's nervous system
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  3. 3
    Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects

    Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects by La Carpia, Francesca, Rendeli, Claudia, Molinario, Clelia, Milillo, Annamaria, Farroni, Chiara, Cannelli, Natalia, Ausili, Emanuele, Paolucci, Valentina, Neri, Giovanni, Romagnoli, Costantino, Sangiorgi, Eugenio, Gurrieri, Fiorella

    Published in Child's nervous system
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  4. 4
    Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

    Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6 by Cannelli, Natalia, Garavaglia, Barbara, Simonati, Alessandro, Aiello, Chiara, Barzaghi, Chiara, Pezzini, Francesco, Cilio, Maria Roberta, Biancheri, Roberta, Morbin, Michela, Bernardina, Bernardo Dalla, Granata, Tiziana, Tessa, Alessandra, Invernizzi, Federica, Pessagno, Alice, Boldrini, Renata, Zibordi, Federica, Grazian, Luisa, Claps, Dianela, Carrozzo, Rosalba, Mole, Sara E., Nardocci, Nardo, Santorelli, Filippo M.

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  5. 5
    No correlation between X chromosome inactivation pattern and autistic spectrum disorders in an Italian cohort of patients

    No correlation between X chromosome inactivation pattern and autistic spectrum disorders in an Italian cohort of patients by Cannelli, Natalia, Tabolacci, Elisabetta, Rendeli, Claudia, Neri, Giovanni, Gurrieri, Fiorella

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  6. 6
    Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant

    Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant by Cismondi, I Adriana, Cannelli, Natalia, Aiello, Chiara, Santorelli, Filippo M, Kohan, Romina, Oller Ramírez, Ana M, Halac, Inés Noher

    Published in Human genetics
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  7. 7
    Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

    Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations by Striano, Pasquale, Specchio, Nicola, Biancheri, Roberta, Cannelli, Natalia, Simonati, Alessandro, Cassandrini, Denise, Rossi, Andrea, Bruno, Claudio, Fusco, Lucia, Gaggero, Roberto, Vigevano, Federico, Bertini, Enrico, Zara, Federico, Santorelli, Filippo M, Striano, Salvatore

    Published in Epilepsy & behavior
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  8. 8
    Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant

    Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant by Kohan, Romina, Cannelli, Natalia, Aiello, Chiara, Santorelli, Filippo M, Cismondi, Adriana I, Milà, Montserrat, Oller Ramírez, Ana M, Halac, Inés Noher

    Published in Human genetics
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  9. 9
    Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy

    Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy by Montagna, Giorgia, Di Biase, Antonella, Cappa, Marco, Melone, Mariarosa A.B., Piantadosi, Carlo, Colabianchi, Diego, Patrono, Clarice, Attori, Lucilla, Cannelli, Natalia, Cotrufo, Roberto, Salvati, Serafina, Santorelli, Filippo M.

    Published in Human mutation
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