Associated Papers
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.
Burkart S et al.
Clinical Genetics, 2025
Aberrant phase separation of two PKA RIβ neurological disorder mutants leads to mechanistically distinct signaling deficits.
Pool EH et al.
Cell Reports, 2025
Protein Kinase A in neurological disorders.
Glebov-McCloud AGP et al.
Journal of Neurodevelopmental Disorders, 2024
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Marbach F et al.
American Journal of Medical Genetics. Part A, 2022
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Marbach F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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