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

Tarih
2020
Yazar
Klopstock, Thomas
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
Schoels, Ludger
Grasshoff, Ute
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, Helene
Synofzik, Matthis
Traschuetz, Andreas
Schirinzi, Tommaso
Laugwitz, Lucia
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Özet
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).
Bağlantı
http://hdl.handle.net/20.500.12627/3814
https://doi.org/10.1002/ana.25751
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