Last Updated: 09/26/2026
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Found 4 publications
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.
Journal: Human molecular genetics
Published: August 29, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Journal: EMBO molecular medicine
Published: March 26, 2025
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Last Updated: 09/26/2026