Search Results - Valentina Turchetti

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  1. 1

    Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS) [version 2; peer review: 2 approved] by Mariam Kekenadze, Clarissa Rocca, Henry Houlden, Rauan Kaiyrzhanov, Shorena Vashadze, Maia Beridze, Sara Nagy, Nana Kvirkvelia, Valentina Turchetti, Eka Kvaratskhelia

    Published in F1000Research (2024-03-01)
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  2. 2

    Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn by Stephanie Efthymiou, Luiz E. Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F. Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Helio A. G. Teive, Henry Houlden

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  3. 3

    A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders by Gabriele Di Pasquale, Jacopo Colella, Carola P. Di Cataldo, Miguel A. Soler, Sara Fortuna, Emma Mizrahi-Powell, Mathilde Nizon, Mathilde Nizon, Benjamin Cognè, Benjamin Cognè, Valentina Turchetti, Giuseppe D. Mangano, Francesco F. Comisi, Corrado Cecchetti, Alessandra Giliberti, Rosaria Nardello, Piero Pavone, Raffaele Falsaperla, Gabriella Di Rosa, Gilad D. Evrony, Gilad D. Evrony, Maurizio Delvecchio, Mariasavina Severino, Andrea Accogli, Andrea Accogli, Alessandro Vittori, Vincenzo Salpietro, Vincenzo Salpietro

    Published in Frontiers in Cellular Neuroscience (2025-09-01)
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  4. 4

    Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders by Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu

    Published in Nature Communications (2023-07-01)
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