A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Vincenzo A. Gennarino(Columbia University Irving Medical Center), Huda Y. Zoghbi(Howard Hughes Medical Institute)
Cited by 147
Related Papers
Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities
|Cold Spring Harbor Perspectives in Biology|2012|801
MECP2 disorders: from the clinic to mice and back
|Journal of Clinical Investigation|2015|226
TYK2 regulates tau levels, phosphorylation and aggregation in a tauopathy mouse model
|Nature Neuroscience|2024|22