Ohcanbohtosat - Ginevra Zanni

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  1. 1
    Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

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

    Almmustuhtton 2020
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  2. 2
    A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

    A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations Dahkki Tito Calì, Raffaele Lopreiato, Joshua S. Shimony, Marisa Vineyard, Martina Frizzarin, Ginevra Zanni, Giuseppe Zanotti, Marisa Brini, Marwan Shinawi, Ernesto Carafoli

    Almmustuhtton 2015
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  3. 3
    Mutation of plasma membrane Ca <sup>2+</sup> ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca <sup>2+</sup> homeostasis

    Mutation of plasma membrane Ca <sup>2+</sup> ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca <sup>2+</sup> homeostasis Dahkki Ginevra Zanni, Tito Calì, Vera M. Kalscheuer, Denis Ottolini, Sabina Barresi, Nicolas Lebrun, Luisa Montecchi‐Palazzi, Hao Hu, Jamel Chelly, Enrico Bertini, Marisa Brini, Ernesto Carafoli

    Almmustuhtton 2012
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  4. 4
    Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes

    Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes Dahkki Lidia Pollara, Ennio De Gregorio, V Buonofiglio, Lorelai Bianca, T. Stellato, M Brusa, Elisabetta De Gasperi, Anna Ardissone, Ginevra Zanni, Roberta Battini, Silvana Briuglia, Virginie Sottile, Enza Maria Valente

    Almmustuhtton 2025
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  5. 5
    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifica... Dahkki Yoann Saillour, Ginevra Zanni, V. des Portes, D. Héron, Laurent Guibaud, M T Iba-Zizen, Jean‐Michel Pédespan, Karine Poirier, L. Castelnau, Cédric Julien, C Franconnet, David T. Bonthron, Mary Porteous, Jamel Chelly, Thierry Bienvenu

    Almmustuhtton 2007
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  6. 6
    The ataxia related G1107D mutation of the plasma membrane Ca 2+ ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process

    The ataxia related G1107D mutation of the plasma membrane Ca 2+ ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition process Dahkki Tito Calì, Martina Frizzarin, Laura Luoni, Francesco Zonta, Sergio Pantano, Carlos Cruz, Maria Cristina Bonza, Ilenia Bertipaglia, Maria Ruzzene, Maria Ida De Michelis, Nunzio Damiano, Oriano Marin, Ginevra Zanni, Giuseppe Zanotti, Marisa Brini, Raffaele Lopreiato, Ernesto Carafoli

    Almmustuhtton 2016
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  7. 7
    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

    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 Dahkki Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    Almmustuhtton 2012
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  8. 8
    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy Dahkki Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D’Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi‐Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini

    Almmustuhtton 2016
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  9. 9
    Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

    Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients Dahkki Andreas Traschütz, Astrid Adarmes‐Gómez, Mathieu Anheim, Jonathan Baets, Björn Falkenburger, Janina Gburek‐Augustat, Sarah Doss, Christoph Kamm, Péter Klivényi, Marcus Grobe‐Einsler, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Chiara Pane, M. Renaud, Filippo M. Santorelli, Lüdger Schöls, Dagmar Timmann, Stefan Vielhaber, Tobias B. Haack, Bart P.C. van de Warrenburg, Ginevra Zanni, Matthis Synofzik

    Almmustuhtton 2023
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  10. 10
    Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients

    Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients Dahkki Andreas Traschütz, Astrid Adarmes‐Gómez, Mathieu Anheim, Jonathan Baets, Bernard Brais, Cynthia Gagnon, Janina Gburek‐Augustat, Sarah Doss, Haşmet Hanağası, Christoph Kamm, Péter Klivényi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Münchau, M. Renaud, Filippo M. Santorelli, Lüdger Schöls, Andreas Thieme, Stefan Vielhaber, Bart P.C. van de Warrenburg, Ginevra Zanni, R.-D Hilgers, Matthis Synofzik

    Almmustuhtton 2023
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  11. 11
    Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

    Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) Dahkki Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, D. Rating, Romina Romaniello, Filippo M. Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente

    Almmustuhtton 2016
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  12. 12
    Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

    Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy Dahkki Melanie Brugger, Antonella Lauri, Zhen Yan, Laura Ludovica Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arélin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl‐Wildemann, Hagit Daum, Rachel Michaelson‐Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valério Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner

    Almmustuhtton 2024
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  13. 13
    A clinical diagnostic algorithm for early onset cerebellar ataxia

    A clinical diagnostic algorithm for early onset cerebellar ataxia Dahkki Rick Brandsma, Corien C. Verschuuren‐Bemelmans, Dina Amrom, Nina Barišić, Peter Baxter, Enrico Bertini, Lubov Blumkin, Vesna Branković-Srećković, Oebele F. Brouwer, Katrin Bürk, Coriene E. Catsman‐Berrevoets, Dana Craiu, I.F.M. de Coo, J. Gburek, C Kennedy, Tom J. de Koning, H.P.H. Kremer, Ram Kumar, Alfons Macaya, Alessia Micalizzi, Marisol Mirabelli-Badenier, Andrea H. Németh, Sara Nuovo, Bwee Tien Poll‐The, Tally Lerman‐Sagie, Maja Steinlin, Matthis Synofzik, Marina A.J. Tijssen, Gessica Vasco, Michèl A.A.P. Willemsen, Ginevra Zanni, Enza Maria Valente, Eugen Boltshauser, Deborah A. Sival

    Almmustuhtton 2019
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  14. 14
    Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients

    Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients Dahkki Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, C.A. Bingman, Selina Reich, Jan Marco Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Dürr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter De Jonghe, Willem De Ridder, Matthieu Béreau, Stephanie Demuth, Christos Ganos, A. Nazlı Başak, Haşmet Hanağası, Semra Hız Kurul, Benjamin Bender, Lüdger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horváth, Bart van de Warrenburg, Lydie Bürglen, Christelle Rougeot, Claire Ewenczyk, Michel Kœnig, Filippo M. Santorelli, Mathieu Anheim, Renato P. Munhoz, Tobias B. Haack, Felix Distelmaier, David J. Pagliarini, Hélène Puccio, Matthis Synofzik

    Almmustuhtton 2020
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  15. 15
    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias Dahkki Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damásio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas D. Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz‐Hübsch, Sarah Doss, Gijs A.J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Darío Ortigoza‐Escobar, Stefano D’Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. de Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cécilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart van de Warrenburg, Lüdger Schöls, Franco Taroni, Alexis Brice, Alexandra Dürr

    Almmustuhtton 2023
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  16. 16
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders Dahkki Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep S. Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch‐Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks

    Almmustuhtton 2021
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