Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development. od Sabina Barresi, Sara Tomaselli, Alekos Athanasiadis, Federica Galeano, Franco Locatelli, Enrico Bertini, Ginevra Zanni, Angela Gallo

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Neurological and Neuroimaging Features of <i>CYB5R3</i>-Related Recessive Hereditary Methemoglobinemia Type II od Francesco Nicita, Letizia Sabatini, Viola Alesi, Giulia Lucignani, Ester Sallicandro, Antonella Sferra, Enrico Bertini, Ginevra Zanni, Giuseppe Palumbo

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Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias od Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita

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TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics od Antonella Sferra, Stefania Petrini, Emanuele Bellacchio, Francesco Nicita, Francesco Scibelli, Maria Lisa Dentici, Paolo Alfieri, Gianluca Cestra, Enrico Silvio Bertini, Ginevra Zanni

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A Novel <i>KCNA2</i> Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine od Paola Imbrici, Elena Conte, Rikard Blunck, Fabrizia Stregapede, Antonella Liantonio, Michele Tosi, Maria Cristina D’Adamo, Annamaria De Luca, Vesna Brankovic, Ginevra Zanni

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Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases od Daniela Scarabino, Liana Veneziano, Alessia Fiore, Suran Nethisinghe, Elide Mantuano, Hector Garcia-Moreno, Gianmarco Bellucci, Nita Solanky, Maria Morello, Ginevra Zanni, Rosa Maria Corbo, Paola Giunti

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Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience od Vittorio Riso, Salvatore Rossi, Tommaso F. Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo M. Santorelli, Gabriella Silvestri

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A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing od Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli

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Novel <em>KCND3</em> Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K_V4.3 Protein Expression and K+ Currents with Variable Effects on Channel Pr... od Ginevra Zanni, Cheng-Tsung Hsiao, Ssu-Ju Fu, Chih-Yung Tang, Alessandro Capuano, Luca Bosco, Federica Graziola, Emanuele Bellacchio, Serenella Servidei, Guido Primiano, Bing-Wen Soong, Chung-Jiuan Jeng

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Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease od Carmela Romano, Emanuele Morena, Simona Petrucci, Simona Petrucci, Selene Diamant, Martina Marconi, Lorena Travaglini, Ginevra Zanni, Maria Piane, Maria Piane, Marco Salvetti, Marco Salvetti, Silvia Romano, Giovanni Ristori, Giovanni Ristori

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Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports od Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Cindy Skinner, Michael Friez, Gabriele Piccolo, Antonio Novelli, Ginevra Zanni, Maria Lisa Dentici, Stefano Vicari, Paolo Alfieri

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Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <i>ITPR1</i>-Related Disorders od Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D’Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni

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Spontaneous shaker rat mutant – a new model for X-linked tremor/ataxia od Karla P. Figueroa, Sharan Paul, Tito Calì, Raffaele Lopreiato, Sukanya Karan, Martina Frizzarin, Darren Ames, Ginevra Zanni, Marisa Brini, Warunee Dansithong, Brett Milash, Daniel R. Scoles, Ernesto Carafoli, Stefan M. Pulst

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PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports od Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Cindy Skinner, Michael Friez, Gabriele Piccolo, Antonio Novelli, Ginevra Zanni, Maria Lisa Dentici, Stefano Vicari, Paolo Alfieri

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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling od Maria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, Cristina Caciolo, Paola De Rose, Francesca Cumbo, Viola Alesi, Rossella Capolino, Ginevra Zanni, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Maria Cristina Digilio, Bruno Dallapiccola, Stefano Vicari, Paolo Alfieri

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A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia od Mattia Vicario, Ginevra Zanni, Francesca Vallese, Filippo Santorelli, Alessandro Grinzato, Domenico Cieri, Paola Berto, Martina Frizzarin, Raffaele Lopreiato, Francesco Zonta, Stefania Ferro, Michele Sandre, Oriano Marin, Maria Ruzzene, Enrico Bertini, Giuseppe Zanotti, Marisa Brini, Tito Calì, Ernesto Carafoli

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The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity od Francesca Vallese, Lorenzo Maso, Flavia Giamogante, Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Raffaele Lopreiato, Laura Cendron, Lorella Navazio, Ginevra Zanni, Yvonne Weber, Tatjana Kovacevic-Preradovic, Boris Keren, Alessandra Torraco, Rosalba Carrozzo, Francesco Peretto, Caterina Peggion, Stefania Ferro, Oriano Marin, Giuseppe Zanotti, Tito Calì, Marisa Brini, Ernesto Carafoli

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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects od Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair

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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects od Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair

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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias od Andreas Traschütz, Andreas Traschütz, Selina Reich, Selina Reich, Astrid D. Adarmes, Astrid D. Adarmes, Mathieu Anheim, Mathieu Anheim, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, Jonathan Baets, Jonathan Baets, A. Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A. Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Peter de Jonghe, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Thomas Klopstock, Thomas Klopstock, Martina Minnerop, Martina Minnerop, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Mathilde Renaud, Richard H. Roxburgh, Richard H. Roxburgh, Filippo M. Santorelli, Tommaso Schirinzi, Tommaso Schirinzi, Deborah A. Sival, Dagmar Timmann, Stefan Vielhaber, Stefan Vielhaber, Stefan Vielhaber, Michael Wallner, Bart P. van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Thomas Klockgether, Rebecca Schüle, Rebecca Schüle, Ludger Schöls, Ludger Schöls, PREPARE Consortium, Matthis Synofzik, Matthis Synofzik

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