Preservation of neurons in an AD 79 vitrified human brain von Petrone, Pierpaolo, Giordano, Guido, Vezzoli, Elena, Pensa, Alessandra, Castaldo, Giuseppe, Graziano, Vincenzo, Sirano, Francesco, Capasso, Emanuele, Quaremba, Giuseppe, Vona, Alessandro, Miano, Maria Giuseppina, Savino, Sergio, Niola, Massimo

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Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases von Verrillo, Lucia, Di Palma, Rosita, de Bellis, Alberto, Drongitis, Denise, Miano, Maria Giuseppina

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The Chromatin-Oxygen Sensor Gene KDM5C Associates with Novel Hypoxia-Related Signatures in Glioblastoma Multiforme von Drongitis, Denise, Verrillo, Lucia, De Marinis, Pasqualino, Orabona, Pasquale, Caiola, Agnese, Turitto, Giacinto, Alfieri, Alessandra, Bruscella, Sara, Gentile, Marisa, Moriello, Vania, Sannino, Ettore, Di Muccio, Ines, Costa, Valerio, Miano, Maria Giuseppina, de Bellis, Alberto

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Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability von Poeta, Loredana, Malacarne, Michela, Padula, Agnese, Drongitis, Denise, Verrillo, Lucia, Lioi, Maria Brigida, Chiariello, Andrea M, Bianco, Simona, Nicodemi, Mario, Piccione, Maria, Salzano, Emanuela, Coviello, Domenico, Miano, Maria Giuseppina

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A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX von Poeta, Loredana, Fusco, Francesca, Drongitis, Denise, Shoubridge, Cheryl, Manganelli, Genesia, Filosa, Stefania, Paciolla, Mariateresa, Courtney, Monica, Collombat, Patrick, Lioi, Maria Brigida, Gecz, Jozef, Ursini, Matilde Valeria, Miano, Maria Giuseppina

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Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms von FUSCO, Francesca, PACIOLLA, Mariateresa, NAPOLITANO, Federico, PESCATORE, Alessandra, D'ADDARIO, Irene, BAL, Elodie, BRIGIDA LIOI, Maria, SMAHI, Asma, GIUSEPPINA MIANO, Maria, VALERIA URSINI, Matilde

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Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations von Fusco, Francesca, Pescatore, Alessandra, Bal, Elodie, Ghoul, Aida, Paciolla, Mariateresa, Lioi, Maria Brigida, D'Urso, Michele, Rabia, Smail Hadj, Bodemer, Christine, Bonnefont, Jean Paul, Munnich, Arnold, Miano, Maria Giuseppina, Smahi, Asma, Ursini, Matilde Valeria

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The LCR at the IKBKG Locus Is Prone to Recombine von Fusco, Francesca, D'Urso, Michele, Miano, Maria Giuseppina, Ursini, Matilde Valeria

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Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti von Francesca, Fusco, Mariateresa, Paciolla, Alessandra, Pescatore, Brigida, Lioi Maria, Carmen, Ayuso, Francesca, Faravelli, Mattia, Gentile, Marcella, Zollino, Michele, D'Urso, Giuseppina, Miano Maria, Valeria, Ursini Matilde

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Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction von Fimiani, Giorgia, Laperuta, Carmela, Falco, Geppino, Ventruto, Valerio, D’Urso, Michele, Ursini, Matilde Valeria, Miano, Maria Giuseppina

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DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms von Poeta, Loredana, Drongitis, Denise, Verrillo, Lucia, Miano, Maria Giuseppina

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A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy von Alagia, Marianna, Fecarotta, Simona, Romano, Alfonso, Parrini, Elena, Auricchio, Gianfranca, Miano, Maria Giuseppina, Terrone, Gaetano

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Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report von Miano, Maria Giuseppina, Laperuta, Carmela, Chiurazzi, Pietro, D'Urso, Michele, Ursini, Matilde Valeria

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A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells von Verrillo, Lucia, Mangano, Eleonora, Drongitis, Denise, Merelli, Ivan, Pischedda, Francesca, Piccoli, Giovanni, Consolandi, Clarissa, Bordoni, Roberta, Miano, Maria Giuseppina

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Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures von Poeta, Loredana, Padula, Agnese, Lioi, Maria Brigida, van Bokhoven, Hans, Miano, Maria Giuseppina

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Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy von Drongitis, Denise, Caterino, Marianna, Verrillo, Lucia, Santonicola, Pamela, Costanzo, Michele, Poeta, Loredana, Attianese, Benedetta, Barra, Adriano, Terrone, Gaetano, Lioi, Maria Brigida, Paladino, Simona, Di Schiavi, Elia, Costa, Valerio, Ruoppolo, Margherita, Miano, Maria Giuseppina

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Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains von Miano, Maria Giuseppina, Testa, Francesco, Filippini, Francesco, Trujillo, Mariajosè, Conte, Ivan, Lanzara, Carmela, Millán, Josè Maria, De Bernardo, Carmelilia, Grammatico, Barbara, Mangino, Massimo, Torrente, Isabella, Carrozzo, Romeo, Simonelli, Francesca, Rinaldi, Ernesto, Ventruto, Valerio, D'Urso, Michele, Ayuso, Carmen, Ciccodicola, Alfredo

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Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders von Poeta, Loredana, Padula, Agnese, Attianese, Benedetta, Valentino, Mariaelena, Verrillo, Lucia, Filosa, Stefania, Shoubridge, Cheryl, Barra, Adriano, Schwartz, Charles E, Christensen, Jesper, van Bokhoven, Hans, Helin, Kristian, Lioi, Maria Brigida, Collombat, Patrick, Gecz, Jozef, Altucci, Lucia, Di Schiavi, Elia, Miano, Maria Giuseppina

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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants von Leonardi, Emanuela, Aspromonte, Maria Cristina, Drongitis, Denise, Bettella, Elisa, Verrillo, Lucia, Polli, Roberta, McEntagart, Meriel, Licchetta, Laura, Dilena, Robertino, D'Arrigo, Stefano, Ciaccio, Claudia, Esposito, Silvia, Leuzzi, Vincenzo, Torella, Annalaura, Baldo, Demetrio, Lonardo, Fortunato, Bonato, Giulia, Pellegrin, Serena, Stanzial, Franco, Posmyk, Renata, Kaczorowska, Ewa, Carecchio, Miryam, Gos, Monika, Rzońca-Niewczas, Sylwia, Miano, Maria Giuseppina, Murgia, Alessandra

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Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease von Conte, Matilde Immacolata, Pescatore, Alessandra, Paciolla, Mariateresa, Esposito, Elio, Miano, Maria Giuseppina, Lioi, Maria Brigida, McAleer, Maeve A., Giardino, Giuliana, Pignata, Claudio, Irvine, Alan D., Scheuerle, Angela E., Royer, Ghislaine, Hadj-Rabia, Smail, Bodemer, Christine, Bonnefont, Jean-Paul, Munnich, Arnold, Smahi, Asma, Steffann, Julie, Fusco, Francesca, Ursini, Matilde Valeria

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