Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Magri, Stefania"'
Autor:
Nanetti L; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Magri S; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Fichera M; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Castaldo A; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Nigri A; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Pinardi C; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy.; Bassini Hospital, Cinisello Balsamo, Milan, Italy., Mongelli A; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Sarro L; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy.; Neurology Unit, Martini Hospital, Turin, Italy., Pareyson D; Rare Neurodegenerative and Neurometabolic Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Grisoli M; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Gellera C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Di Bella D; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Mariotti C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Taroni F; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Apr; Vol. 38 (4), pp. 665-675. Date of Electronic Publication: 2023 Feb 17.
Autor:
Mademan I; 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium., Harmuth F; 3 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany., Giordano I; 4 Department of Neurology, University Hospital of Bonn, Germany 5 German Research Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany., Timmann D; 6 Department of Neurology, University of Duisburg-Essen, Essen, Germany., Magri S; 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Deconinck T; 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium., Claaßen J; 6 Department of Neurology, University of Duisburg-Essen, Essen, Germany., Jokisch D; 6 Department of Neurology, University of Duisburg-Essen, Essen, Germany., Genc G; 8 Department of Neurology, Gumussuyu Military Hospital, Istanbul, Turkey., Di Bella D; 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Romito S; 9 Division of Neurology, Department of Neuroscience, Azienda Ospedaliera Universitaria Integrata, Verona, Italy., Schüle R; 10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Züchner S; 12 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA., Taroni F; 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Klockgether T; 4 Department of Neurology, University Hospital of Bonn, Germany 5 German Research Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany., Schöls L; 10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany., De Jonghe P; 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium 13 Department of Neurology, Antwerp University Hospital, Belgium., Bauer P; 3 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany., Consortium E, Baets J; 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium 13 Department of Neurology, Antwerp University Hospital, Belgium., Synofzik M; 10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany matthis.synofzik@uni-tuebingen.de.
Publikováno v:
Brain : a journal of neurology [Brain] 2016 Aug; Vol. 139 (Pt 8), pp. e46. Date of Electronic Publication: 2016 May 19.
Autor:
Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Bella, Daniela Di, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola
Publikováno v:
Brain: A Journal of Neurology; Dec2023, Vol. 146 Issue 12, p5060-5069, 10p
Autor:
Gatti, Marta1 (AUTHOR), Magri, Stefania1 (AUTHOR), Di Bella, Daniela1 (AUTHOR), Sarto, Elisa1 (AUTHOR), Taroni, Franco1 (AUTHOR), Mariotti, Caterina1 (AUTHOR) caterina.mariotti@istituto-besta.it, Nanetti, Lorenzo1 (AUTHOR)
Publikováno v:
Neurological Sciences. Nov2021, Vol. 42 Issue 11, p4741-4745. 5p. 1 Graph.
Akademický článek
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Autor:
Di Bella Daniela, Lazzaro Federico, Brusco Alfredo, Plumari Massimo, Battaglia Giorgio, Pastore A, Finardi Adele, Cagnoli Claudia, Tempia Filippo, Frontali Marina, Veneziano Liana, Sacco Tiziana, Boda Enrica, Brussino Alessandro, Bonn Florian, Castellotti Barbara, Baratta Silvia, Mariotti Caterina, Gellera Cinzia, Fracasso Valentina, Magri Stefania, Langer Thomas, Plevani Paolo, Di Donato Stefano, Muzi-Falconi Marco, Taroni Franco, RI Tempia Filippo/A-5883-2012 Muzi-Falconi Marco/A-6035-2012 Di Donato Stefano/B-9717-2012
Publikováno v:
Nat Genet
Nature genetics
42 (2010): 313–321. doi:10.1038/ng.544
info:cnr-pdr/source/autori:Di Bella D1; Lazzaro F2; Brusco A3; Plumari M1; Battaglia G4; Pastore A5; Finardi A4; Cagnoli C3; Tempia F6; Frontali M7; Veneziano L7; Sacco T6; Boda E6; Brussino A3; Bonn F8; Castellotti B1; Baratta S1; Mariotti C1; Gellera C1; Fracasso V1; Magri S1; Langer T8; Plevani P2; Di Donato S1; Muzi-Falconi M2; Taroni F.1/titolo:Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28/doi:10.1038%2Fng.544/rivista:Nature genetics (Print)/anno:2010/pagina_da:313/pagina_a:321/intervallo_pagine:313–321/volume:42
Nature genetics
42 (2010): 313–321. doi:10.1038/ng.544
info:cnr-pdr/source/autori:Di Bella D1; Lazzaro F2; Brusco A3; Plumari M1; Battaglia G4; Pastore A5; Finardi A4; Cagnoli C3; Tempia F6; Frontali M7; Veneziano L7; Sacco T6; Boda E6; Brussino A3; Bonn F8; Castellotti B1; Baratta S1; Mariotti C1; Gellera C1; Fracasso V1; Magri S1; Langer T8; Plevani P2; Di Donato S1; Muzi-Falconi M2; Taroni F.1/titolo:Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28/doi:10.1038%2Fng.544/rivista:Nature genetics (Print)/anno:2010/pagina_da:313/pagina_a:321/intervallo_pagine:313–321/volume:42
Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell degeneration. Here we show that AFG3L2 mutations cause SCA type 28. Along with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f13eb460fd34a0e7d759f428d00d27d
http://hdl.handle.net/2318/69084
http://hdl.handle.net/2318/69084
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Mademan, Inès, Harmuth, Florian, Giordano, Ilaria, Timmann, Dagmar, Magri, Stefania, Deconinck, Tine, Claaβen, Jens, Jokisch, Daniel, Genc, Gencer, Di Bella, Daniela, Romito, Silvia, Schüle, Rebecca, Züchner, Stephan, Taroni, Franco, Klockgether, Thomas, Schöls, Ludger, De Jonghe, Peter, Bauer, Peter, Baets, Jonathan, Synofzik, Matthis
Publikováno v:
Brain: A Journal of Neurology; 8/1/2016, Vol. 139 Issue 8, p1-6, 6p
Autor:
Gessica Vasco, Franco Taroni, A. Nazli Basak, Filippo M. Santorelli, Matthis Synofzik, Claire Ewenczyk, Michel Koenig, Ginevra Zanni, Bart P.C. van de Warrenburg, Selina Reich, Andreas Traschütz, Thomas Klopstock, Lydie Burglen, Enrico Bertini, Matthieu Bereau, Stefania Magri, Willem De Ridder, Anna Heinzmann, Stephanie Demuth, Hasmet Hanagasi, Jonathan Baets, Ute Grasshoff, David J. Pagliarini, Alexandra Durr, Craig A. Bingman, Tommaso Schirinzi, Lucia Laugwitz, Jan Kern, Christelle Rougeot, Hélène Puccio, Christos Ganos, Rita Horvath, Peter De Jonghe, Benjamin Bender, Ludger Schöls, Renato P. Munhoz, Tobias B. Haack, Mathieu Anheim, Felix Distelmaier, Alessandro Malandrini, Semra Hız Kurul, Nathan H. Murray
Publikováno v:
Annals of Neurology
Annals of neurology
Ann Neurol
Annals of Neurology, 88, 2, pp. 251-263
Annals of neurology 88(2), 251-263 (2020). doi:10.1002/ana.25751
Annals of Neurology, 88, 251-263
Annals of neurology
Ann Neurol
Annals of Neurology, 88, 2, pp. 251-263
Annals of neurology 88(2), 251-263 (2020). doi:10.1002/ana.25751
Annals of Neurology, 88, 251-263
Objective: to foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including treatment response to coen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2447fab1657759c2727fd84df8830141
https://doi.org/10.1002/ana.25751
https://doi.org/10.1002/ana.25751