VLDLR-Associated Cerebellar Hypoplasia Latest Advances

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

Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.

Journal: Human mutation

Published: February 10, 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

It is more "unbalanced" than you think.

Journal: Blood

Published: March 09, 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

VLDLR-Associated Cerebellar Hypoplasia Latest Advances

Find the Latest Research About VLDLR-Associated Cerebellar Hypoplasia

Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus.

Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus.

Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.

Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.

Structural and functional properties of the N- and C-terminal segments of the P4-ATPase phospholipid flippase ATP8A2.

Structural and functional properties of the N- and C-terminal segments of the P4-ATPase phospholipid flippase ATP8A2.

Interventions for preventing haemodialysis dysequilibrium syndrome.

Interventions for preventing haemodialysis dysequilibrium syndrome.

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

The effects of response disequilibrium on social media use: A laboratory analogue.

The effects of response disequilibrium on social media use: A laboratory analogue.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Genetic Insights into the causal relationship between cannabis use and diabetic phenotypes: A genetic correlation and Mendelian randomization study.

Genetic Insights into the causal relationship between cannabis use and diabetic phenotypes: A genetic correlation and Mendelian randomization study.

It is more "unbalanced" than you think.

It is more "unbalanced" than you think.

Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test.

Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test.

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.