Associated Papers
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Issa MY et al.
American Journal of Medical Genetics. Part A, 2024
Phospholipase A2-activating protein induces mitophagy through anti-apoptotic MCL1-mediated NLRX1 oligomerization.
Zheng Z et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2023
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of PLAA.
Dai C et al.
Clinical Genetics, 2019
PEHO syndrome: the endpoint of different genetic epilepsies.
Chitre M et al.
Journal of Medical Genetics, 2018
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA et al.
American Journal of Human Genetics, 2017
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