Vishnu, Venugopalan Y. http://orcid.org/0000-0002-3654-8137
Lemmers, Richard J. L. F.
Reyaz, Alisha
Mishra, Rinkle
Ahmad, Tanveer http://orcid.org/0009-0005-2956-1148
van der Vliet, Patrick J.
Kretkiewicz, Marcelina M. http://orcid.org/0009-0005-6020-6830
Macken, William L.
Efthymiou, Stephanie http://orcid.org/0000-0003-4900-9877
Dominik, Natalia
Morrow, Jasper M.
Bhatia, Rohit
Wilson, Lindsay A. http://orcid.org/0009-0001-9396-5893
Houlden, Henry http://orcid.org/0000-0002-2866-7777
Hanna, Michael G. http://orcid.org/0000-0003-0825-4075
Bugiardini, Enrico
van der Maarel, Silvère M. http://orcid.org/0000-0001-8103-711X
Srivastava, M. V. Padma http://orcid.org/0000-0001-7615-9411
Funding for this research was provided by:
RCUK | Medical Research Council (MR/S005021/1, MR/S005021/1, MR/S005021/1, MR/S005021/1, MR/S005021/1, MR/S005021/1, MR/S005021/1, MR/S005021/1, MR/S005021/1, MR/S005021/1)
Rosetrees Trust (none)
Friends of FSH Research (none)
Indian Council of Medical Research (I/1566/2023/RS)
(1) National Brain Appeal Innovation Fund (no reference), (2) UCL:AIIMS intramural award
All India Institute of Medical Sciences
Leiden University Medical Center
Article History
Received: 9 July 2023
Revised: 12 January 2024
Accepted: 21 February 2024
First Online: 25 April 2024
Competing interests
: The authors declare no competing interests. JM receives consultancy fees from Roche, unrelated to this work. SvdM has acted as consultant and/or is a member of the advisory board for several companies that develop therapeutics for FSHD, is co-inventor on several FSHD patent applications and is a Board member for Renogenyx.
: The ICGNMD study is approved in the UK by University College London (Data Protection Ref Z6364106/2019/10/90 & R&D Ref 125328) and HRA (Ref 19/LO/1796), and in India by AIIMS Ethics Committee (Refs: IEC-237/05.04.2019, AA-2/3.05.2019 & IEC-102/04.02.2022, RP-21/2022) and HMSC (2022-17132/F1).