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Last Updated: 10/31/2025
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Found 133 publications
Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus.
Journal: Journal of neuropathology and experimental neurology
Published: September 20, 2025
Structural and functional properties of the N- and C-terminal segments of the P4-ATPase phospholipid flippase ATP8A2.
Journal: The Journal of biological chemistry
Published: September 19, 2024
Interventions for preventing haemodialysis dysequilibrium syndrome.
Journal: The Cochrane database of systematic reviews
Published: May 22, 2024
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.
Journal: Journal of human genetics
Published: April 22, 2024
Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Journal: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
Published: December 18, 2023
The effects of response disequilibrium on social media use: A laboratory analogue.
Journal: Behavioural processes
Published: November 21, 2023
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 01, 2023
Genetic Insights into the causal relationship between cannabis use and diabetic phenotypes: A genetic correlation and Mendelian randomization study.
Journal: Drug and alcohol dependence
Published: August 20, 2023
Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test.
Journal: BMJ paediatrics open
Published: March 01, 2023
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Journal: The Tohoku journal of experimental medicine
Published: March 24, 2022
Broadening the Clinical Spectrum of Very Low Density Lipoprotein Receptor Associated Dysequilibrium Syndrome.
Journal: Movement disorders clinical practice
Published: August 06, 2020
Last Updated: 10/31/2025