Clinico-genetic, imaging and molecular delineation of COQ8A-ataxia: a multicenter study of 59 patients


Andreas Traschütz, MD, PhD1,2, Tommaso Schirinzi, MD3,4, Lucia Laugwitz, MD5,6, Nathan H. Murray,

BSc7,8, Craig A. Bingman, PhD7,8, Selina Reich, MSc1,2, Jan Kern6, Anna Heinzmann, MD9,10, Gessica

Vasco, MD, PhD3, Enrico Bertini, MD, Prof.11, Ginevra Zanni, MD, PhD11, Alexandra Durr, MD, PhD,

Prof.9,10, Stefania Magri, PhD13, Franco Taroni, MD13, Alessandro Malandrini, MD14, Jonathan Baets,

MD, PhD, Prof.15,16,17, Peter de Jonghe, MD, PhD, Prof.15,16,17, Willem de Ridder, MD15,16,17, Matthieu

Bereau, MD18,19, Stephanie Demuth, MD20, Christos Ganos, MD21, A. Nazli Basak, PhD, Prof.22, Hasmet

Hanagasi, MD, Prof.23, Semra Hiz Kurul, MD, Prof.24, Benjamin Bender, MD25, Ludger Schöls, MD,

Prof.1,2, Ute Grasshoff, MD5, Thomas Klopstock, MD, Prof.26,27,28, Rita Horvath, MD, PhD, Prof.29,30,

Bart van de Warrenburg, MD, PhD, Prof.31, Lydie Burglen, MD, PhD32,33,34, Christelle Rougeot, MD32,35,

Claire Ewenczyk, MD, PhD9,10,36, Michel Koenig, MD, PhD, Prof.37, Filippo M. Santorelli, MD38,

Mathieu Anheim, MD, PhD, Prof.39,40,41, Renato P. Munhoz, MD, PhD42, Tobias Haack, MD5, Felix

Distelmaier, MD43, David J. Pagliarini, PhD, Prof.7,8, Hélène Puccio, PhD44,45,46,47, Matthis Synofzik, MD1,2

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