Resultados de búsqueda - Wolfgang Nachbauer
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Consensus Paper: Management of Degenerative Cerebellar Disorders por Winfried Ilg, Amy J. Bastian, Sylvia Boesch, Roxana G. Burciu, Pablo Celnik, Jens Claaßen, Katharina Feil, R. Kalla, Ichiro Miyai, Wolfgang Nachbauer, Lüdger Schöls, Michael Strupp, Matthis Synofzik, Julian Teufel, Dagmar Timmann
Publicado 2013Artigo -
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Onset features and time to diagnosis in Friedreich’s Ataxia por Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Dürr, Thomas Klopstock, Lüdger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch
Publicado 2020Artigo -
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Efficacy of Omaveloxolone in Friedreich's Ataxia: <scp>Delayed‐Start</scp> Analysis of the <scp>MOXIe</scp> Extension por David R. Lynch, Melanie Chin, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, Angie Goldsberry, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Megan O’Grady, Susan Perlman, S. H. Subramony, George Wilmot, Theresa A. Zesiewicz, Colin J. Meyer
Publicado 2022Artigo -
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Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data por David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S. H. Subramony, George Wilmot, Theresa A. Zesiewicz, Lisa A. Weissfeld, Colin J. Meyer
Publicado 2023Artigo -
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Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (<scp>MOXIe</scp> Study) por David R. Lynch, Melanie Chin, Martin B. Delatycki, S. H. Subramony, Manuela Corti, J. Chad Hoyle, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Katherine D. Mathews, Paola Giunti, George Wilmot, Theresa A. Zesiewicz, Susan Perlman, Angie Goldsberry, Megan A. O’Grady, Colin J. Meyer
Publicado 2020Artigo -
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Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia por David R. Lynch, Jennifer Farmer, Lauren Hauser, Ian A. Blair, Qing Qing Wang, Clementina Mesaros, Nathaniel W. Snyder, Sylvia Boesch, Melanie Chin, Martin B. Delatycki, Paola Giunti, Angela Goldsberry, Chad Hoyle, Michael G. McBride, Wolfgang Nachbauer, Megan O’Grady, Susan Perlman, S. H. Subramony, George Wilmot, Theresa A. Zesiewicz, Colin J. Meyer
Publicado 2018Artigo -
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Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study por 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
Publicado 2020Artigo -
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Nonataxia symptoms in Friedreich Ataxia por 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
Publicado 2018Artigo -
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The Pattern and Staging of Brain Atrophy in Spinocerebellar Ataxia Type 2 (SCA2): MRI Volumetrics from ENIGMA-Ataxia por 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
Publicado 2024Pré-impressão -
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The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from <scp>ENIGMA</scp>‐Ataxia por 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
Publicado 2025Artigo -
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Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study por 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
Publicado 2016Artigo -
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Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study por 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
Publicado 2021Artigo -
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Brain Structure and Degeneration Staging in Friedreich Ataxia: <scp>Magnetic Resonance Imaging</scp> Volumetrics from the <scp>ENIGMA‐Ataxia</scp> Working Group por Ian H. Harding, Sidhant Chopra, Filippo Arrigoni, Sylvia Boesch, Arturo Brunetti, Sirio Cocozza, Louise A. Corben, Andreas Deistung, Martin B. Delatycki, Stefano Diciotti, Imis Dogan, Stefania Evangelisti, Marcondes C. França, Sophia Göricke, Nellie Georgiou‐Karistianis, Laura Ludovica Gramegna, Pierre‐Gilles Henry, Carlos R. Hernandez‐Castillo, Diane Hutter, Neda Jahanshad, James M. Joers, Christophe Lenglet, Raffaele Lodi, David Neil Manners, Alberto Martínez, Andrea Martinuzzi, Chiara Marzi, Mario Mascalchi, Wolfgang Nachbauer, Chiara Pane, Denis Peruzzo, Pramod Kumar Pisharady, Giuseppe Pontillo, Kathrin Reetz, Thiago Junqueira Ribeiro de Rezende, Sandro Romanzetti, Francesco Saccà, Christoph Scherfler, Jörg B. Schulz, Ambra Stefani, Claudia Testa, Sophia I. Thomopoulos, Dagmar Timmann, Stefania Tirelli, Caterina Tonon, Marinela Vavla, Gary F. Egan, Paul M. Thompson
Publicado 2021Artigo -
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Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance por Thomas Klockgether, Matthis Synofzik, Saud Alhusaini, Mathieu Anheim, Irina Antonijevic, Tee Ashizawa, Luís Bataller, Mélanie Berard, Enrico Bertini, Sylvia Boesch, Pedro Braga‐Neto, Emanuel Cassou, Edwin H.W. Chan, Rosalind Chuang, Abbie Collins, Joana Damásio, Karina Carvalho Donis, Antoine Duquette, João Durães, Alexandra Dürr, Rebecca Evans, Jennifer Faber, Jennifer Farmer, Vincenzo A. Gennarino, Holm Graeßner, Marcus Grobe‐Einsler, Hasmet Hanagasie, Morteza Heidari, Henry Houlden, Elisabetta Indelicato, Kinya Ishikawa, Heike Jacobi, Laura Bannach Jardim, Yaz Y. Kisanuki, Svetlana Kopishinskaia, Gilbert L ́Italien, Roderick P.P.W.M. Maas, Michelangelo Mancuso, Caterina Mariotti, Norlinah Mohamed Ibrahim, Wolfgang Nachbauer, Andrea H. Németh, Yi Shiau Ng, Katja Obieglo, Osamu Onodera, Puneet Opal, Luís Pereira de Almeida, Susan Perlman, Guido Primiano, M. Renaud, Liana S. Rosenthal, Francesco Saccà, Zahid Sattar, Tanja Schmitz‐Hübsch, Lüdger Schöls, Rebecca Schüle, Lauren Seeberger, Gabriella Silvestri, Anna Sobańska, Bin‐Weng Soong, Achal Kumar Srivastava, Colleen Stoyas, Sophie Tézenas du Montcel, Andreas Thieme, Dagmar Timmann, Adina Tocoian, Andreas Traschütz, Bart van de Warrenburg, Wolfram Ziegler
Publicado 2023Revisão -
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants por Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, G. Shashidhar Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt W. Yue, Hessa S. Alsaif, M. Natalia Zanetti, Oscar D. Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh Heidari Feizabadi, Stéphanie Efthymiou, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Hala T. El‐Bassyouni, Doaa Soliman, S. Tekeş, Leyla Özer, Volkan Baltacı, Suliman Khan, Christian Beetz, Khalda Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S. Alkuraya, Henry Houlden
Publicado 2020Artigo -
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment por Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, Christine G. Spaeth, Stéphanie Efthymiou, Pasquale Striano, Jana Vandrovcová, Maria Concetta Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marcé‐Grau, Miquel Raspall‐Chaure, Elena Martín‐Hernández, Federico Zara, Carlo Minetti, Oscar D. Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frédéric Tran Mau‐Them, Laurence Faivre, Francisco Martínez‐Azorín, Carlos E. Prada, Alfons Macaya, Dimitri M. Kullmann, James E. Rothman, Shyam S. Krishnakumar, Henry Houlden, Vincenzo Salpietro, Stéphanie Efthymiou, Yamna Kriouile, M. El Khorassani, M. Aguennouz, Blagovesta Marinova Karashova, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Lionel Van Maldergem, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Erica Pironti, Jatinder S. Goraya, Tipu Sultan, Salman Kirmani, Shahnaz Ibrahim, Farida Jan, Jun Mine, Selina Banu, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Barbara Garavaglia, Carmela Scuderi, Eugenia Borgione, Valeria Dipasquale, Maria Concetta Cutrupi, Simona Portaro, Benigno Monteagudo Sanchez, Mercedes Pineda-Marfa, Francina Munell, Alfons Macaya, Richard G. Boles, Gali Heimer, Savvas Papacostas, Andreea Manole, Nancy T. Malintan, M. Natalia Zanetti, Michael G. Hanna, James E. Rothman, Dimitri M. Kullmann, Henry Houlden
Publicado 2019Artigo -
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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification por Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, Carol Macmillan, Viorica Chelban, Benjamin O’Callaghan, John McKinley, Reza Maroofian, Stéphanie Efthymiou, Alkyoni Athanasiou‐Fragkouli, Raeburn Forbes, Marc P. M. Soutar, John H. Livingston, Bernardett Kalmar, Orlando Swayne, Gary Hotton, Alan Pittman, João Ricardo Mendes de Oliveira, Maria De Grandis, Angela Richard-Loendt, Francesca Launchbury, Juri Althonayan, Gavin McDonnell, Aisling Carr, Suliman Khan, Christian Beetz, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Amber Begtrup, Erin Torti, Linda Greensmith, Paola Giunti, Patrick J. Morrison, Sebastian Brandner, Michel Aurrand‐Lions, Henry Houlden, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed
Publicado 2020Artigo -
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination por Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A. Botía, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcová, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, James E. Rothman, Dimitri M. Kullmann, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Shen‐Yang Lim, Mohd. Farooq Shaikh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves Dauvilliers, Carlo Minetti, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Menelaos Pipis, Conceição Bettencourt, Simon Rinaldi, Laurence E. Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale de Lonlay, Vincent Cantagrel, M. Aguennouz, M. El Khorassani, Miriam Schmidts, Fowzan S. Alkuraya, Simon Edvardson, Maria Nolano, Jérôme Devaux, Henry Houlden
Publicado 2019Artigo
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