Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

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 coenzyme Q10 (CoQ10). METHODS: Cross‐modal analysis of...

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Detalles Bibliográficos
Autores principales: Traschütz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan H., Bingman, Craig A., Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, de Jonghe, Peter, de Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Basak, A. Nazli, Hanagasi, Hasmet, Kurul, Semra Hiz, Bender, Benjamin, Schöls, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, van de Warrenburg, Bart, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, Koenig, Michel, Santorelli, Filippo M., Anheim, Mathieu, Munhoz, Renato P., Haack, Tobias, Distelmaier, Felix, Pagliarini, David J., Puccio, Hélène, Synofzik, Matthis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877690/
https://www.ncbi.nlm.nih.gov/pubmed/32337771
http://dx.doi.org/10.1002/ana.25751

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