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A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

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Title: A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.
Authors: Di Pasquale G; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy., Colella J; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy., Di Cataldo CP; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy., Soler MA; Department of Mathematics, Computer Science and Physics, University of Udine, Udine, Italy., Fortuna S; Italian Institute of Technology (IIT), Genova, Italy., Mizrahi-Powell E; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, United States., Nizon M; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Cognè B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Turchetti V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom., Mangano GD; Department of Medicine and Surgery, University of Enna Kore, Enna, Italy., Comisi FF; Pediatric Clinic and Rare Diseases, Microcitemico Hospital 'A. Cao', University of Cagliari, Cagliari, Italy., Cecchetti C; Department of Anesthesia, Critical Care and Pain Medicine, ARCO, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy., Giliberti A; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro', University of Palermo, Palermo, Italy., Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro', University of Palermo, Palermo, Italy., Pavone P; Department of Pediatrics, University of Catania, Catania, Italy., Falsaperla R; Department of Pediatrics, University of Ferrara, Ferrara, Italy., Di Rosa G; Unit of Child Neurology and Psychiatry, Maternal-Infantile Department, University of Messina, Messina, Italy., Evrony GD; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, United States.; Department of Pediatrics, Department of Neuroscience and Physiology, Institute for Systems Genetics, Perlmutter Cancer Center and Neuroscience Institute, New York University Grossman School of Medicine, New York, NY, United States., Delvecchio M; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Accogli A; Division of Medical Genetics, Department of Medicine, McGill University Health Center, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Vittori A; Department of Anesthesia, Critical Care and Pain Medicine, ARCO, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy., Salpietro V; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy.; European Brain Research Institute 'Rita Levi-Montalcini' Viale Regina Elena, Rome, Italy.
Source: Frontiers in cellular neuroscience [Front Cell Neurosci] 2025 Sep 25; Vol. 19, pp. 1664953. Date of Electronic Publication: 2025 Sep 25 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477935 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5102 (Print) Linking ISSN: 16625102 NLM ISO Abbreviation: Front Cell Neurosci Subsets: PubMed not MEDLINE
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  Data: A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.
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  Data: <searchLink fieldCode="AU" term="%22Di+Pasquale+G%22">Di Pasquale G</searchLink>; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy.<br /><searchLink fieldCode="AU" term="%22Colella+J%22">Colella J</searchLink>; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Cataldo+CP%22">Di Cataldo CP</searchLink>; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy.<br /><searchLink fieldCode="AU" term="%22Soler+MA%22">Soler MA</searchLink>; Department of Mathematics, Computer Science and Physics, University of Udine, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Fortuna+S%22">Fortuna S</searchLink>; Italian Institute of Technology (IIT), Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Mizrahi-Powell+E%22">Mizrahi-Powell E</searchLink>; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, United States.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cognè+B%22">Cognè B</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Turchetti+V%22">Turchetti V</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mangano+GD%22">Mangano GD</searchLink>; Department of Medicine and Surgery, University of Enna Kore, Enna, Italy.<br /><searchLink fieldCode="AU" term="%22Comisi+FF%22">Comisi FF</searchLink>; Pediatric Clinic and Rare Diseases, Microcitemico Hospital 'A. Cao', University of Cagliari, Cagliari, Italy.<br /><searchLink fieldCode="AU" term="%22Cecchetti+C%22">Cecchetti C</searchLink>; Department of Anesthesia, Critical Care and Pain Medicine, ARCO, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Giliberti+A%22">Giliberti A</searchLink>; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro', University of Palermo, Palermo, Italy.<br /><searchLink fieldCode="AU" term="%22Nardello+R%22">Nardello R</searchLink>; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro', University of Palermo, Palermo, Italy.<br /><searchLink fieldCode="AU" term="%22Pavone+P%22">Pavone P</searchLink>; Department of Pediatrics, University of Catania, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Falsaperla+R%22">Falsaperla R</searchLink>; Department of Pediatrics, University of Ferrara, Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Rosa+G%22">Di Rosa G</searchLink>; Unit of Child Neurology and Psychiatry, Maternal-Infantile Department, University of Messina, Messina, Italy.<br /><searchLink fieldCode="AU" term="%22Evrony+GD%22">Evrony GD</searchLink>; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, United States.; Department of Pediatrics, Department of Neuroscience and Physiology, Institute for Systems Genetics, Perlmutter Cancer Center and Neuroscience Institute, New York University Grossman School of Medicine, New York, NY, United States.<br /><searchLink fieldCode="AU" term="%22Delvecchio+M%22">Delvecchio M</searchLink>; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy.<br /><searchLink fieldCode="AU" term="%22Severino+M%22">Severino M</searchLink>; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Accogli+A%22">Accogli A</searchLink>; Division of Medical Genetics, Department of Medicine, McGill University Health Center, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Vittori+A%22">Vittori A</searchLink>; Department of Anesthesia, Critical Care and Pain Medicine, ARCO, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Biotechnological and Applied Clinical Sciences, Academic Unit of Pediatrics, University of L'Aquila, L'Aquila, Italy.; European Brain Research Institute 'Rita Levi-Montalcini' Viale Regina Elena, Rome, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101477935%22">Frontiers in cellular neuroscience</searchLink> [Front Cell Neurosci] 2025 Sep 25; Vol. 19, pp. 1664953. <i>Date of Electronic Publication: </i>2025 Sep 25 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101477935 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1662-5102 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216625102%22">16625102 </searchLink><i>NLM ISO Abbreviation: </i>Front Cell Neurosci <i>Subsets: </i>PubMed not MEDLINE
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