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Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
Author / Creator:Garone, Giacomo ; Capuano, Alessandro ; Travaglini, Lorena ; Graziola, Federica ; Stregapede, Fabrizia ; Zanni, Ginevra ; Vigevano, Federico ; Bertini, Enrico ; Nicita, Francesco
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2020-05, Vol.21 (10), p.3603
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Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Author / Creator:Nicita, Francesco ; Ginevrino, Monia ; Travaglini, Lorena ; D'Arrigo, Stefano ; Zorzi, Giovanna ; Borgatti, Renato ; Terrone, Gaetano ; Catteruccia, Michela ; Vasco, Gessica ; Brankovic, Vesna ; Siliquini, Sabrina ; Romano, Silvia ; Veredice, Chiara ; Pedemonte, Marina ; Armando, Michelina ; Lettori, Donatella ; Stregapede, Fabrizia ; Bosco, Luca ; Sferra, Antonella ; Tessarollo, Valeria ; Romaniello, Romina ; Ristori, Giovanni ; Bertini, Enrico ; Valente, Enza Maria ; Zanni, Ginevra
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2021-07, Vol.58 (7), p.475-483
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Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis
Author / Creator:Zanni, Ginevra ; Calì, Tito ; Kalscheuer, Vera M ; Ottolini, Denis ; Barresi, Sabina ; Lebrun, Nicolas ; Montecchi-Palazzi, Luisa ; Hu, Hao ; Chelly, Jamel ; Bertini, Enrico ; Brini, Marisa ; Carafoli, Ernesto
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-09, Vol.109 (36), p.14514-14519
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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Author / Creator:Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N. ; Smith, Katherine R. ; Davidson, Nadia M. ; Siddall, Nicole A. ; Zhao, Liang ; Bowles, Josephine ; Weiss, Karin ; Zanni, Ginevra ; Burglen, Lydie ; Ben-Shachar, Shay ; Rosensaft, Jenny ; Raas-Rothschild, Annick ; Jørgensen, Anne ; Schittenhelm, Ralf B. ; Huang, Cheng ; Robevska, Gorjana ; van den Bergen, Jocelyn ; Casagranda, Franca ; Cyza, Justyna ; Pachernegg, Svenja ; Wright, David K. ; Bahlo, Melanie ; Oshlack, Alicia ; O’Brien, Terrence J. ; Kwan, Patrick ; Koopman, Peter ; Hime, Gary R. ; Girard, Nadine ; Hoffmann, Chen ; Shilon, Yuval ; Zung, Amnon ; Bertini, Enrico ; Milh, Mathieu ; Ben Rhouma, Bochra ; Belguith, Neila ; Bashamboo, Anu ; McElreavey, Kenneth ; Banne, Ehud ; Weintrob, Naomi ; BenZeev, Bruria ; Sinclair, Andrew H.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-06, Vol.14 (1), p.3403-3403, Article 3403
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Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
Author / Creator:Nuovo, Sara ; Micalizzi, Alessia ; Romaniello, Romina ; Arrigoni, Filippo ; Ginevrino, Monia ; Casella, Antonella ; Serpieri, Valentina ; D'Arrigo, Stefano ; Briguglio, Marilena ; Salerno, Grazia Gabriella ; Rossato, Sara ; Sartori, Stefano ; Leuzzi, Vincenzo ; Battini, Roberta ; Ben-Zeev, Bruria ; Graziano, Claudio ; Mirabelli Badenier, Marisol ; Brankovic, Vesna ; Nardocci, Nardo ; Spiegel, Ronen ; Petković Ramadža, Danijela ; Vento, Giovanni ; Marti, Itxaso ; Simonati, Alessandro ; Dipresa, Savina ; Freri, Elena ; Mazza, Tommaso ; Bassi, Maria Teresa ; Bosco, Luca ; Travaglini, Lorena ; Zanni, Ginevra ; Bertini, Enrico Silvio ; Vanacore, Nicola ; Borgatti, Renato ; Valente, Enza Maria
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-04, Vol.59 (4), p.399-409
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Author / Creator:Nashabat, Marwan ; Nabavizadeh, Nasrinsadat ; Saraçoğlu, Hilal Pırıl ; Sarıbaş, Burak ; Avcı, Şahin ; Börklü, Esra ; Beillard, Emmanuel ; Yılmaz, Elanur ; Uygur, Seyide Ecesu ; Kayhan, Cavit Kerem ; Bosco, Luca ; Eren, Zeynep Bengi ; Steindl, Katharina ; Richter, Manuela Friederike ; Bademci, Guney ; Rauch, Anita ; Fattahi, Zohreh ; Valentino, Maria Lucia ; Connolly, Anne M. ; Bahr, Angela ; Viola, Laura ; Bergmann, Anke Katharina ; Rocha, Maria Eugenia ; Peart, LeShon ; Castro-Rojas, Derly Liseth ; Bültmann, Eva ; Khan, Suliman ; Giarrana, Miriam Liliana ; Teleanu, Raluca Ioana ; Gonzalez, Joanna Michelle ; Pini, Antonella ; Schädlich, Ines Sophie ; Vill, Katharina ; Brugger, Melanie ; Zuchner, Stephan ; Pinto, Andreia ; Donkervoort, Sandra ; Bivona, Stephanie Ann ; Riza, Anca ; Streata, Ioana ; Gläser, Dieter ; Baquero-Montoya, Carolina ; Garcia-Restrepo, Natalia ; Kotzaeridou, Urania ; Brunet, Theresa ; Epure, Diana Anamaria ; Bertoli-Avella, Aida ; Kariminejad, Ariana ; Tekin, Mustafa ; von Hardenberg, Sandra ; Bönnemann, Carsten G. ; Stettner, Georg M. ; Zanni, Ginevra ; Kayserili, Hülya ; Oflazer, Zehra Piraye ; Escande-Beillard, Nathalie
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-02, Vol.15 (1), p.1758-1758, Article 1758
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TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics
Author / Creator:Sferra, Antonella ; Petrini, Stefania ; Bellacchio, Emanuele ; Nicita, Francesco ; Scibelli, Francesco ; Dentici, Maria Lisa ; Alfieri, Paolo ; Cestra, Gianluca ; Bertini, Enrico Silvio ; Zanni, Ginevra
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2020-02, Vol.21 (4), p.1385
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
Author / Creator:Travaglini, Lorena ; Aiello, Chiara ; Stregapede, Fabrizia ; D’Amico, Adele ; Alesi, Viola ; Ciolfi, Andrea ; Bruselles, Alessandro ; Catteruccia, Michela ; Pizzi, Simone ; Zanni, Ginevra ; Loddo, Sara ; Barresi, Sabina ; Vasco, Gessica ; Tartaglia, Marco ; Bertini, Enrico ; Nicita, Francesco
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2018-05, Vol.19 (2), p.111-121
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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Author / Creator:Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N. ; Smith, Katherine R. ; Davidson, Nadia M. ; Siddall, Nicole A. ; Zhao, Liang ; Bowles, Josephine ; Weiss, Karin ; Zanni, Ginevra ; Burglen, Lydie ; Ben-Shachar, Shay ; Rosensaft, Jenny ; Raas-Rothschild, Annick ; Jørgensen, Anne ; Schittenhelm, Ralf B. ; Huang, Cheng ; Robevska, Gorjana ; van den Bergen, Jocelyn ; Casagranda, Franca ; Cyza, Justyna ; Pachernegg, Svenja ; Wright, David K. ; Bahlo, Melanie ; Oshlack, Alicia ; O’Brien, Terrence J. ; Kwan, Patrick ; Koopman, Peter ; Hime, Gary R. ; Girard, Nadine ; Hoffmann, Chen ; Shilon, Yuval ; Zung, Amnon ; Bertini, Enrico ; Milh, Mathieu ; Ben Rhouma, Bochra ; Belguith, Neila ; Bashamboo, Anu ; McElreavey, Kenneth ; Banne, Ehud ; Weintrob, Naomi ; BenZeev, Bruria ; Sinclair, Andrew H.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-06, Vol.14 (1), p.3566-3566, Article 3566
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The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity
Author / Creator:Vallese, Francesca ; Maso, Lorenzo ; Giamogante, Flavia ; Poggio, Elena ; Barazzuol, Lucia ; Salmaso, Andrea ; Lopreiato, Raffaele ; Cendron, Laura ; Navazio, Lorella ; Zanni, Ginevra ; Weber, Yvonne ; Kovacevic-Preradovic, Tatjana ; Keren, Boris ; Torraco, Alessandra ; Carrozzo, Rosalba ; Peretto, Francesco ; Peggion, Caterina ; Ferro, Stefania ; Marin, Oriano ; Zanotti, Giuseppe ; Calì, Tito ; Brini, Marisa ; Carafoli, Ernesto
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2022-10, Vol.13 (10), p.855-855, Article 855
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Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II
Author / Creator:Nicita, Francesco ; Sabatini, Letizia ; Alesi, Viola ; Lucignani, Giulia ; Sallicandro, Ester ; Sferra, Antonella ; Bertini, Enrico ; Zanni, Ginevra ; Palumbo, Giuseppe
Publisher:Switzerland: MDPI AG
Journal title:Brain sciences, 2022-01, Vol.12 (2), p.182
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Author / Creator:Burglen, Lydie ; Chantot-Bastaraud, Sandra ; Garel, Catherine ; Milh, Mathieu ; Touraine, Renaud ; Zanni, Ginevra ; Petit, Florence ; Afenjar, Alexandra ; Goizet, Cyril ; Barresi, Sabina ; Coussement, Aurélie ; Ioos, Christine ; Lazaro, Leila ; Joriot, Sylvie ; Desguerre, Isabelle ; Lacombe, Didier ; des Portes, Vincent ; Bertini, Enrico ; Siffroi, Jean-Pierre ; Billette de Villemeur, Thierry ; Rodriguez, Diana
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-03, Vol.7 (1), p.18-18
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X-linked disorders with cerebellar dysgenesis
Author / Creator:Zanni, Ginevra ; Bertini, Enrico S
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-05, Vol.6 (1), p.24-24
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Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
Author / Creator:Scarabino, Daniela ; Veneziano, Liana ; Fiore, Alessia ; Nethisinghe, Suran ; Mantuano, Elide ; Garcia-Moreno, Hector ; Bellucci, Gianmarco ; Solanky, Nita ; Morello, Maria ; Zanni, Ginevra ; Corbo, Rosa Maria ; Giunti, Paola
Publisher:Switzerland: MDPI AG
Journal title:Antioxidants, 2022-07, Vol.11 (8), p.1436
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Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development
Author / Creator:Barresi, Sabina ; Tomaselli, Sara ; Athanasiadis, Alekos ; Galeano, Federica ; Locatelli, Franco ; Bertini, Enrico ; Zanni, Ginevra ; Gallo, Angela
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-03, Vol.9 (3), p.e91351-e91351
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Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell‐Derived Neurons With Oligophrenin‐1 Loss of Function
Author / Creator:Compagnucci, Claudia ; Barresi, Sabina ; Petrini, Stefania ; Billuart, Pierre ; Piccini, Giorgia ; Chiurazzi, Pietro ; Alfieri, Paolo ; Bertini, Enrico ; Zanni, Ginevra
Publisher:Durham, NC, USA: AlphaMed Press
Journal title:Stem cells translational medicine, 2016-07, Vol.5 (7), p.860-869
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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
Author / Creator:Riso, Vittorio ; Rossi, Salvatore ; Nicoletti, Tommaso ; Tessa, Alessandra ; Travaglini, Lorena ; Zanni, Ginevra ; Aiello, Chiara ; Perna, Alessia ; Barghigiani, Melissa ; Pomponi, Maria ; Santorelli, Filippo ; Silvestri, Gabriella
Publisher:Switzerland: MDPI AG
Journal title:Brain sciences, 2021-02, Vol.11 (2), p.246
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Spontaneous shaker rat mutant – a new model for X-linked tremor/ataxia
Author / Creator:Figueroa, Karla P. ; Paul, Sharan ; Calì, Tito ; Lopreiato, Raffaele ; Karan, Sukanya ; Frizzarin, Martina ; Ames, Darren ; Zanni, Ginevra ; Brini, Marisa ; Dansithong, Warunee ; Milash, Brett ; Scoles, Daniel R. ; Carafoli, Ernesto ; Pulst, Stefan M.
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2016-05, Vol.9 (5), p.553-562
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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling
Author / Creator:Dentici, Maria Lisa ; Bergonzini, Paola ; Scibelli, Francesco ; Caciolo, Cristina ; De Rose, Paola ; Cumbo, Francesca ; Alesi, Viola ; Capolino, Rossella ; Zanni, Ginevra ; Sinibaldi, Lorenzo ; Novelli, Antonio ; Tartaglia, Marco ; Digilio, Maria Cristina ; Dallapiccola, Bruno ; Vicari, Stefano ; Alfieri, Paolo
Publisher:Switzerland: MDPI AG
Journal title:Brain sciences, 2020-11, Vol.10 (11), p.839
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A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing
Author / Creator:Macchiaiolo, Marina ; Barresi, Sabina ; Cecconi, Francesco ; Zanni, Ginevra ; Niceta, Marcello ; Bellacchio, Emanuele ; Lazzarino, Giacomo ; Amorini, Angela Maria ; Bertini, Enrico Silvio ; Rizza, Salvatore ; Contardi, Benedetta ; Tartaglia, Marco ; Bartuli, Andrea
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2017-08, Vol.43 (1), p.65-65, Article 65
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Showing 1 to 20 of 49 results

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Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

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Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

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Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis

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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

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Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

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TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

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The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity

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Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

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X-linked disorders with cerebellar dysgenesis

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Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

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Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development

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Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell‐Derived Neurons With Oligophrenin‐1 Loss of Function

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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

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Spontaneous shaker rat mutant – a new model for X-linked tremor/ataxia

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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

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A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

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