Schoch, Kelly
Ruegg, Mischa S. G.
Fellows, Bridget J. http://orcid.org/0000-0003-4164-020X
Cao, Joseph http://orcid.org/0000-0002-1185-3100
Uhrig, Sabine
Einsele-Scholz, Stephanie
Biskup, Saskia
Hawarden, Samuel R. A.
Salpietro, Vincenzo http://orcid.org/0000-0003-0132-7921
Capra, Valeria http://orcid.org/0000-0002-3097-0388
Brown, Chris M.
Accogli, Andrea
Shashi, Vandana
Bicknell, Louise S. http://orcid.org/0000-0001-6899-9322
,
Funding for this research was provided by:
Manatu Hauora | Health Research Council of New Zealand
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (U01HG007672, U01HG007672)
U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke
Article History
Received: 16 December 2023
Revised: 13 February 2024
Accepted: 26 February 2024
First Online: 11 March 2024
Competing interests
: The authors declare no competing interests.
: Ethical approval for this study was obtained from the Health and Disability Ethics Committee, New Zealand (16/STH/3). F1-1 was enrolled in a research study approved by the central IRB at the National Human Genome Research Institute (NHGRI, 15-HG-0130) and locally by the Duke University IRB (Pro00056651). All families agreed to participate in this study, and separate consent was obtained for the use of photographs.