Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications
YY1 mutations disrupt corticogenesis through a cell type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
Journal: Molecular psychiatry
Published: March 31, 2024
YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
Journal: bioRxiv : the preprint server for biology
Published: February 26, 2024
TBC1D24 interacts with the v-ATPase and regulates intraorganellar pH in neurons.
Journal: iScience
Published: December 12, 2023
Ca2+ binding to synapsin I regulates resting Ca2+ and recovery from synaptic depression in nerve terminals.
Journal: Cellular and molecular life sciences : CMLS
Published: September 26, 2022
Rapid generation of functional engineered 3D human neuronal assemblies: network dynamics evaluated by micro-electrodes arrays.
Journal: Journal of neural engineering
Published: March 08, 2021
An interaction between PRRT2 and Na+/K+ ATPase contributes to the control of neuronal excitability.
Journal: Cell death & disease
Published: October 26, 2020
Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy.
Journal: Frontiers in cellular neuroscience
Published: December 09, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Journal: Brain : a journal of neurology
Published: February 22, 2019
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
Journal: Human molecular genetics
Published: August 29, 2018
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
Journal: Cell death and differentiation
Published: April 09, 2018
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
Journal: American journal of medical genetics. Part A
Published: July 13, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026