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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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ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

Luis Vázquez-Fonseca 1,2,†, Jochen Schaefer 3,†, Ignacio Navas-Enamorado 1,4,5,
Carlos Santos-Ocaña 1,6, Juan D. Hernández-Camacho 1,6, Ignacio Guerra 1, María V. Cascajo 1,6, Ana Sánchez-Cuesta 1,6, Zoltan Horvath 3,‡, Emilio Siendones 1, Cristina Jou 6,7, Mercedes Casado 6,7, Purificación Gutiérrez 1, Gloria Brea-Calvo 1,6, Guillermo López-Lluch 1,6,
Daniel J. M. Fernández-Ayala 1,6, Ana B. Cortés-Rodríguez 1,6, Juan C. Rodríguez-Aguilera 1,6, Cristiane Matté 8, Antonia Ribes 6,9, Sandra Y. Prieto-Soler 10, Eduardo Dominguez-del-Toro 10, Andrea di Francesco 5, Miguel A. Aon 5, Michel Bernier 5, Leonardo Salviati 2, Rafael Artuch 6,7, Rafael de Cabo 5, Sandra Jackson 3 and Plácido Navas 1,6,*

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