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Last Updated: 01/07/2026

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Found 283 publications

Clinical and genetic analysis of six children with RARS2-related pontocerebellar hypoplasia

Clinical and genetic analysis of six children with RARS2-related pontocerebellar hypoplasia

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 13, 2025

Teaching Video NeuroImage: CASK-Related Pontocerebellar Hypoplasia With Complex Movement Disorder.

Teaching Video NeuroImage: CASK-Related Pontocerebellar Hypoplasia With Complex Movement Disorder.

Journal: Neurology
Published: October 27, 2025

Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review

Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 10, 2025

Biochemical characterizations of Pontocerebellar Hypoplasia linked mutations of Target of Egr1 (TOE1) reveal impacts on thermal stability, ribonuclease activity, and oligomerization.

Biochemical characterizations of Pontocerebellar Hypoplasia linked mutations of Target of Egr1 (TOE1) reveal impacts on thermal stability, ribonuclease activity, and oligomerization.

Journal: bioRxiv : the preprint server for biology
Published: September 26, 2025

MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.

MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.

Journal: Clinical genetics
Published: August 11, 2025

Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.

Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.

Journal: Journal of human genetics
Published: August 01, 2025

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A.

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A.

Journal: Developmental medicine and child neurology
Published: July 18, 2025

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.

Journal: Genes
Published: April 30, 2025

Correspondence on "Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder" by Rawlins et al.

Correspondence on "Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder" by Rawlins et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 20, 2025

Exploring Pontocerebellar Hypoplasia Type 1C: A Case Study of the 6th Family with The EXOSC8 Gene Mutation.

Exploring Pontocerebellar Hypoplasia Type 1C: A Case Study of the 6th Family with The EXOSC8 Gene Mutation.

Journal: Annals of Indian Academy of Neurology
Published: April 20, 2025

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

Journal: International journal of molecular sciences
Published: March 28, 2025

Pontocerebellar hypoplasia: a review from 1912 to 2022.

Pontocerebellar hypoplasia: a review from 1912 to 2022.

Journal: Brain communications
Published: March 06, 2025
Showing 1-12 of 283

Last Updated: 01/07/2026