Consensus‐based follow‐up and treatment registry for <scp> <i>GNAO1</i> </scp> ‐associated disorder

Using consensus-based ICF domains and assessment instruments for a GNAO1 registry is a major step towards harmonization of future international registries, which will facilitate natural history studies and clinical trials.

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Publication Details

Journal
Developmental Medicine & Child Neurology
Published
2026-02-13
DOI
https://doi.org/10.1111/dmcn.70201
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

Consensus‐based follow‐up and treatment registry for GNAO1 ‐associated disorder

Suzanne van den Bos, C. de Kruiff, N. Wolf, Moritz Thiel et al.
Developmental Medicine & Child Neurology
Genomics and Rare Diseases
article

Consensus‐based follow‐up and treatment registry for GNAO1 ‐associated disorder

Suzanne van den Bos, C. de Kruiff, N. Wolf, Moritz Thiel, Larissa R. Heideman, Eva Van Heeringen‐Broekhuizen, Jolanda H. Schieving, Annemieke I. Buizer, Laura A. Van De Pol, J. Jasper Deuring
article en

Abstract

Using consensus-based ICF domains and assessment instruments for a GNAO1 registry is a major step towards harmonization of future international registries, which will facilitate natural history studies and clinical trials.

Developmental Medicine & Child Neurology
Radboud University Nijmegen (NL), Radboud University Medical Center (NL), Emma Kinderziekenhuis (NL), Amsterdam Neuroscience (NL), Amalia Kinderziekenhuis (NL), Psychotherapy & Movement (NL), Instituut voor de Nederlandse Taal (NL), University Hospital Cologne (DE), Stichting Epilepsie Instellingen Nederland (NL), Amsterdam University of Applied Sciences (NL), Vrije Universiteit Amsterdam (NL), University of Amsterdam (NL)
Openalex Percentile: Top 53%
Genomics and Rare Diseases
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