Last Updated: 09/26/2026
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Found 9 publications
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.
Journal: Journal of medical genetics
Published: January 08, 2024
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Journal: European journal of human genetics : EJHG
Published: April 21, 2023
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Journal: Neurology. Genetics
Published: March 28, 2021
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.
Journal: Neurology. Genetics
Published: February 21, 2020
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Journal: Nature communications
Published: November 16, 2018
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Journal: American journal of human genetics
Published: August 13, 2018
Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.
Journal: Frontiers in molecular biosciences
Published: July 26, 2016
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
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Last Updated: 09/26/2026