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


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,*


Call for papers in Special Issues of CoQ10

1. A special issue on CoQ10 in health has been opened in Antioxidants. All authors that submit a paper will have a 15% discount as regular ICQA members. Expected publication in 2021. To update your membership please contact Monica Glebocki at

Deadline for manuscript submissions: 31 December 2020.

Detailed information can be find at the link:

2. A special issue has been approved in Free Radical in Biology & Medicine edited by Alberto Sanz and Plácido Navas that appears in the journal web. Topic: Mitochondrial Coenzyme Q Homeostasis: signaling, respiratory chain stability and diseasesExpected publication in 2021.

Submission deadline: 15 November 2020

Detailed information can be find at the link:

Open job offer

Dr. Catarina Quinzii is looking to hire a postdoctoral researcher to work in her lab.  The research project offered are below:


For further details please contact 

To apply please send a CV including a statement of research interests and names of 2 references to: Catarina M Quinzii (, by February 29, 2020. Selected applicants will be invited to an interview in person or via Skype. Candidates will be informed about the selection by March 2020 with a projected June 2020 start date. The selected candidate must submit the necessary documents to Columbia University. Foreign applicants are encouraged to apply early to ensure adequate time to obtain visas