Characterization of novel CASQ1 variants in two families with unusual phenotypic features
This study expands the spectrum of pathogenic CASQ1 variants. The morphological changes in the SR-feet indicate a novel pathogenetic mechanism.
Authors
- Mridul Johari (ORCID: https://orcid.org/0000-0002-3549-558X)
- Sanna Huovinen (ORCID: https://orcid.org/0000-0001-7659-7921)
- Vilma‐Lotta Lehtokari (ORCID: https://orcid.org/0000-0002-8276-0972)
- Peter Hackman (ORCID: https://orcid.org/0000-0001-7890-5713)
- Jens Reimann (ORCID: https://orcid.org/0000-0003-3349-6877)
- Cornelia Kornblum (ORCID: https://orcid.org/0000-0002-0111-7281)
- Manu Jokela (ORCID: https://orcid.org/0000-0002-7568-4684)
- J. Sarparanta (ORCID: https://orcid.org/0000-0002-5497-5255)
- Katarina Pelin (ORCID: https://orcid.org/0000-0002-7040-7266)
- Anna Vihola (ORCID: https://orcid.org/0000-0001-9249-8480)
- Zhao Fang (ORCID: https://orcid.org/0000-0003-3057-8738)
- Milla Laarne (ORCID: https://orcid.org/0000-0001-5690-4779)
- Bjarne Udd
Institutions
- University of Helsinki (FI)
- University of Turku (FI)
- The University of Western Australia (AU)
- University Hospital Bonn (DE)
- Harry Perkins Institute of Medical Research (AU)
- Helsinki University Hospital (FI)
- Turku University Hospital (FI)
- Tampere University Hospital (FI)
- Tampere University (FI)
- Fimlab (Finland) (FI)
- Folkhälsans Forskningscentrum (FI)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1007/s00415-025-13512-3
- Citations
- 2
- Primary Topic
- Hippo pathway signaling and YAP/TAZ
- Type
- article
- Field-Weighted Citation Impact
- 2.30
Funders
- Helsingin Yliopisto
- Medicinska Understödsföreningen Liv och Hälsa
- Finska Läkaresällskapet
- Folkhälsanin Tutkimussäätiö
- Jane ja Aatos Erkon Säätiö
- China Scholarship Council
- Samfundet Folkhälsan