Ohcanbohtosat - Lorenzo Nanetti

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Aiddostahte ozu
  1. 1
    Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

    Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48 Dahkki Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, Elisa Sarto, Elena Rizzo, Alessia Mongelli, Benedetta Ricci, Roberto Fancellu, Luisa Sambati, Pietro Cortelli, Alfredo Brusco, Maria Grazia Bruzzone, Caterina Mariotti, Daniela Di Bella, Franco Taroni

    Almmustuhtton 2021
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  2. 2
    Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

    Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48 Dahkki Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, José Berciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli, Isabella Moroni, Paola Soliveri, E. Lamperti, Luisa Chiapparini, Daniela Di Bella, Franco Taroni, Caterina Mariotti

    Almmustuhtton 2014
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  3. 3
    SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

    SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study Dahkki Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias B. Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Dürr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Kœnig, Lüdger Schöls, Rebecca Schüle, Peter De Jonghe, Mathieu Anheim, Franco Taroni, Peter Bauer

    Almmustuhtton 2016
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  4. 4
    Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study

    Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study Dahkki Heike Jacobi, Sophie Tézenas du Montcel, Sandro Romanzetti, Florian Harmuth, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Grzegorz Makowicz, Alexandra Dürr, Marie-Lorraine Monin, Alessandro Filla, Alessandro Roca, Lüdger Schöls, Holger Hengel, Jon Infante, Jun-Suk Kang, Dagmar Timmann, Carlo Casali, Marcella Masciullo, László Balikó, Béla Melegh, Wolfgang Nachbauer, Katrin Bürk-Gergs, Jörg B. Schulz, Olaf Rieß, Kathrin Reetz, Thomas Klockgether

    Almmustuhtton 2020
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  5. 5
    Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

    Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study Dahkki Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Alexandra Dürr, Alexis Brice, Perrine Charles, Cécilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sobańska, Anna Sułek, Tanja Schmitz‐Hübsch, Lüdger Schöls, Holger Hengel, Béla Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P.C. van de Warrenburg, Dagmar Timmann, Sylvia Boesch, Massimo Pandolfo, Jörg B. Schulz, Peter Bauer, Paola Giunti, Jun-Suk Kang, Thomas Klockgether, Sophie Tézenas du Montcel

    Almmustuhtton 2018
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  6. 6
    Correction to: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers

    Correction to: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers Dahkki Gülin Öz, Sirio Cocozza, Pierre‐Gilles Henry, Christophe Lenglet, Andreas Deistung, Jennifer Faber, Adam J. Schwarz, Dagmar Timmann, Koene R. A. Van Dijk, Ian H. Harding, Astrid D. Adarmes-Gómez, Andreas Thieme, Kathrin Reetz, Marcin Rylski, Thiago Junqueira Ribeiro de Rezende, Vincenzo A. Gennarino, Eva‐Maria Ratai, Caterina Mariotti, Anna Nigri, Lorenzo Nanetti, Martina Minnerop, Sylvia Boesch, Elisabetta Indelicato, Chiara Pinardi, Kirsi M. Kinnunen, Niccolò Fuin, Alexander Gussew, Cherie L. Marvel, James M. Joers

    Almmustuhtton 2023
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  7. 7
    Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

    Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 Dahkki Sophie Tézenas du Montcel, Alexandra Dürr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sułek, Caterina Mariotti, Rafał Rola, Lüdger Schöls, Peter Bauer, I. Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz‐Hübsch, Alessandro Filla, Dagmar Timmann, Bart P. van de Warrenburg, Cecila Marelli, Jun-Suk Kang, Paola Giunti, Arron Cook, László Balikó, Béla Melegh, Sylvia Boesch, Sandra Szymanski, José Berciano, Jon Infante, Katrin Buerk, Marcella Masciullo, Roberto Di Fabio, Chantal Depondt, Susanne Ratka, Giovanni Stévanin, Thomas Klockgether, Alexis Brice, Jean-Louis Golmard

    Almmustuhtton 2014
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  8. 8
    Nonataxia symptoms in Friedreich Ataxia

    Nonataxia symptoms in Friedreich Ataxia Dahkki Kathrin Reetz, Imis Dogan, Christian Hohenfeld, Claire Didszun, Paola Giunti, Caterina Mariotti, Alexandra Dürr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Lüdger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Jörg B. Schulz, Wolfgang Nachbauer, Andreas Eigentler, Chantal Depondt, Sandra Benaich, Perrine Charles, Claire Ewenczyk, Marie‐Lorraine Monin, Kathrin Fedosov, Manuel Dafotakis, Thomas Klockgether, Dagmar Timmann, Ivan Karin, Christiane Neuhofer, Claudia Stendel, Jennifer Müller vom Hagen, Julia Wolf, Lidia Sarro, Lorenzo Nanetti, Anna Castaldo, Javier Arpa, Irene Sanz‐Gallego, Michael Parkinson, Mary G. Sweeney

    Almmustuhtton 2018
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  9. 9
    The Pattern and Staging of Brain Atrophy in Spinocerebellar Ataxia Type 2 (SCA2): MRI Volumetrics from ENIGMA-Ataxia

    The Pattern and Staging of Brain Atrophy in Spinocerebellar Ataxia Type 2 (SCA2): MRI Volumetrics from ENIGMA-Ataxia Dahkki Jason W. Robertson, Isaac Adanyeguh, Benjamin Bender, Sylvia Boesch, Arturo Brunetti, Sirio Cocozza, Léo Coutinho, Andreas Deistung, Stefano Diciotti, Imis Dogan, Alexandra Dürr, Juan Fernández-Ruíz, Sophia Göricke, Marina Grisoli, Shuo Han, Caterina Mariotti, Chiara Marzi, Mario Mascalchi, Fanny Mochel, Wolfgang Nachbauer, Lorenzo Nanetti, Anna Nigri, Sergio Eiji Ono, Chiadi U. Onyike, Jerry L. Prince, Kathrin Reetz, Sandro Romanzetti, Francesco Saccà, Matthis Synofzik, Hélio Afonso Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Sarah H. Ying, Ian H. Harding, Carlos R. Hernandez‐Castillo

    Almmustuhtton 2024
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  10. 10
    The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from <scp>ENIGMA</scp>‐Ataxia

    The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from <scp>ENIGMA</scp>‐Ataxia Dahkki Jason W. Robertson, Isaac Adanyeguh, Benjamin Bender, Sylvia Boesch, Arturo Brunetti, Sirio Cocozza, Léo Coutinho, Andreas Deistung, Stefano Diciotti, Imis Dogan, Alexandra Dürr, Juan Fernández-Ruíz, Sophia Göricke, Marina Grisoli, Shuo Han, Caterina Mariotti, Chiara Marzi, Mario Mascalchi, Fanny Mochel, Wolfgang Nachbauer, Lorenzo Nanetti, Anna Nigri, Sergio Eiji Ono, Chiadi U. Onyike, Jerry L. Prince, Kathrin Reetz, Sandro Romanzetti, Francesco Saccà, Matthis Synofzik, Hélio Afonso Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Sarah H. Ying, Ian H. Harding, Carlos R. Hernandez‐Castillo

    Almmustuhtton 2025
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  11. 11
    Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

    Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study Dahkki Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Caterina Mariotti, Alexandra Dürr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Lüdger Schöls, Thomas Klockgether, Katrin Bürk, Myriam Rai, Massimo Pandolfo, Jörg B. Schulz, Wolfgang Nachbauer, Andreas Eigentler, Chantal Depondt, Sandra Benaich, Perrine Charles, Claire Ewenczyk, Marie‐Lorraine Monin, Manuel Dafotakis, Kathrin Fedosov, Claire Didszun, Ummehan Ermis, Ilaria Giordano, Dagmar Timmann, Ivan Karin, Christiane Neuhofer, Claudia Stendel, Jennifer Müller vom Hagen, Julia Wolf, Marta Panzeri, Lorenzo Nanetti, Anna Castaldo, Javier Arpa, Irene Sanz‐Gallego, Michael Parkinson, Mary G. Sweeney

    Almmustuhtton 2016
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  12. 12
    Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study

    Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study Dahkki Thiago Junqueira Ribeiro de Rezende, Isaac Adanyaguh, Orlando Graziani Póvoas Barsottini, Benjamin Bender, Fernando Cendes, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Dürr, Juan Fernández-Ruíz, Sophia Göricke, Marina Grisoli, Carlos R. Hernandez‐Castillo, Christophe Lenglet, Caterina Mariotti, Alberto Martínez, Breno Kazuo Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio Eiji Ono, Gülin Öz, José Luiz Pedroso, Kathrin Reetz, Matthis Synofzik, Hélio Afonso Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Bart P.C. van de Warrenburg, Judith van Gaalen, Marcondes C. França, Ian H. Harding

    Almmustuhtton 2024
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  13. 13
    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study Dahkki Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Michael Parkinson, Caterina Mariotti, Lorenzo Nanetti, Alexandra Dürr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Christian Rummey, Lüdger Schöls, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Jörg B. Schulz, Robyn Labrum, Gilbert Thomas‐Black, Katarina Manso, Nita Solanky, Cinzia Gellera, Alessia Mongelli, Anna Castaldo, Mario Fichera, Francesc Palau, Mar O’Callaghan, Marie Biet, Marie Lorraine Monin, Andreas Eigentler, Elisabetta Indelicato, Matthias Amprosi, Florentine Radelfahr, A. Bischoff, Florian Holtbernd, Nikolina Brčina, Christian Hohenfeld, Georgios Koutsis, Marianthi Breza, Enrico Bertini, Gessica Vasco

    Almmustuhtton 2021
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  14. 14
    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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