Harting, Inga http://orcid.org/0000-0002-5734-8548
Al-Saady, Murtadha http://orcid.org/0000-0002-8246-8963
Krägeloh-Mann, Ingeborg http://orcid.org/0000-0003-4599-1373
Bley, Annette http://orcid.org/0000-0002-5514-0938
Hempel, Maja http://orcid.org/0000-0003-0609-2738
Bierhals, Tatjana http://orcid.org/0000-0002-6103-105X
Karch, Stephanie http://orcid.org/0000-0001-5299-4172
Moog, Ute http://orcid.org/0000-0002-4580-7030
Bernard, Geneviève http://orcid.org/0000-0002-9634-2966
Huntsman, Richard http://orcid.org/0000-0003-3772-6932
van Spaendonk, Rosalina M. L. http://orcid.org/0000-0002-6077-8725
Vreeburg, Maaike http://orcid.org/0000-0003-0333-7082
Rodríguez-Palmero, Agustí http://orcid.org/0000-0002-4141-5515
Pujol, Aurora http://orcid.org/0000-0002-9606-0600
van der Knaap, Marjo S. http://orcid.org/0000-0001-8912-0954
Pouwels, Petra J. W. http://orcid.org/0000-0001-8430-0606
Wolf, Nicole I. http://orcid.org/0000-0003-1721-0728
Funding for this research was provided by:
URDCat (PERIS SLT002/16/00174)
Hesperia Foundation
Fundació la Marató de TV3 (345/C/2014)
Secretariat for Universities and Research of the Ministry of Business and Knowledge of the GOvernment of Catalonia (2017SG R1206)
Article History
Received: 6 November 2019
Accepted: 27 December 2019
First Online: 15 January 2020
Compliance with ethical standards
:
: AP is a member of the Undiagnosed Diseases Program International (UDNI). The following authors are members of the European Reference Network for Rare Neurological Disorders (ERN-RND), project ID 739510: I K-M, MSvdK and NIW.
: All authors declare no conflicts of interest in the publication of this manuscript.
: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. The study was approved by institutional review board of VU University Medical Center (PhenoLD, 2018.300), and appropriate written informed consent obtained.