Ginevra Zanni

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 19

Top Venues

Nature communications

International journal of molecular sciences

Brain sciences

Cerebellum (London, England)

This page only lists publications with an associated author ORCID identifier.

Publications

Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
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 Bernd 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 MacElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H Sinclair
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. Nature communications 14 (1) (2023)
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 Bernd 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
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. Nature communications 14 (1) (2023)
Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, Cristina Peduto, Iris Scala, Michele Pinelli, Emanuele Bellacchio, Flavio Gioele Gallo, Adriano Magli, Carmen Plaitano, Mercedes Serrano, Leticia Pías, Jaume Català, Mercè Bolasell, Annalaura Torella, Vincenzo Nigro, Ginevra Zanni, Nicola Brunetti-Pierri
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder. American journal of medical genetics. Part A 188 (10) (2022)
Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D'Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Silvio Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1 -Related Disorders. International journal of molecular sciences 23 (12) (2022)
Francesco Nicita, Letizia Sabatini, Viola Alesi, Giulia Lucignani, Ester Sallicandro, Antonella Sferra, Enrico Silvio Bertini, Ginevra Zanni, Giuseppe Palumbo
Neurological and Neuroimaging Features of CYB5R3 -Related Recessive Hereditary Methemoglobinemia Type II. Brain sciences 12 (2) (2022)
Floriana Costanzo, Ginevra Zanni, Elisa Fucà, Margherita Di Paola, Sabina Barresi, Lorena Travaglini, Giovanna Stefania Colafati, Antonio Gambardella, Emanuele Bellacchio, Enrico Silvio Bertini, Menghini Deny, Stefano Vicari
Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study. International journal of environmental research and public health 19 (3) (2022)
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
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases. Antioxidants (Basel, Switzerland) 11 (8) (2022)
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 Cali, Marisa Brini, Ernesto Carafoli
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca 2+ -microdomains by tuning PMCA3 activity. Cell death & disease 13 (10) (2022)
Paola Imbrici, Elena Conte, Rikard Blunck, Fabrizia Stregapede, Antonella Liantonio, Michele Tosi, Maria Cristina D'Adamo, Annamaria De Luca, Vesna Brankovic, Ginevra Zanni
A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine. International journal of molecular sciences 22 (18) (2021)
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
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties. International journal of molecular sciences 22 (9) (2021)
Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, Giulia Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Silvio Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza Maria Valente, Vincenzo Leuzzi
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human mutation (2021)
Vittorio Riso, Salvatore Rossi, Tommaso Filippo Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo Maria Santorelli, Gabriella Silvestri
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience. Brain sciences 11 (2) (2021)
Francesco Nicita, Marta Nardella, Emanuele Bellacchio, Paolo Alfieri, Gaetano Terrone, Giorgia Piccini, Federica Graziola, Claudio Pignata, Alessandro Capuano, Enrico Bertini, Ginevra Zanni
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. Clinical genetics 96 (2) (2019)
Francesco Nicita, Giorgio Tasca, Marta Nardella, Emanuele Bellacchio, Ilaria Camponeschi, Gessica Vasco, Tommaso Schirinzi, Enrico Bertini, Ginevra Zanni
Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia. Cerebellum (London, England) 17 (4) (2019)
Ginevra Zanni, P De Magistris, M Nardella, E Bellacchio, S Barresi, A Sferra, A Ciolfi, M Motta, H Lue, D Moreno-Andres, M Tartaglia, E Bertini, Wolfram Antonin
Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia. Cerebellum (London, England) 18 (3) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Ginevra Zanni