Pontocerebellar Hypoplasia Latest Advances

Find the Latest Research About Pontocerebellar Hypoplasia

Last Updated: 04/28/2026

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Found 295 publications

EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.

EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.

Journal: bioRxiv : the preprint server for biology
Published: February 09, 2026

EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.

EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.

Journal: bioRxiv : the preprint server for biology
Published: February 09, 2026

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

Journal: Neuro-ophthalmology (Aeolus Press)
Published: February 05, 2026

Pontocerebellar Hypoplasia Type 11 Case with a Novel Variant of TBC1D23 Gene: Case Report and Literature Review.

Pontocerebellar Hypoplasia Type 11 Case with a Novel Variant of TBC1D23 Gene: Case Report and Literature Review.

Journal: Cerebellum (London, England)
Published: February 02, 2026

Pontocerebellar hypoplasia type 2B due to compound heterozygous variants of TSEN2 gene: A case report and literature review

Pontocerebellar hypoplasia type 2B due to compound heterozygous variants of TSEN2 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: February 01, 2026

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

46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review.

46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: November 03, 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

FTH1-Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia.

FTH1-Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia.

Journal: Movement disorders clinical practice
Published: October 23, 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

Genetic and Clinical Insights into Pontocerebellar Hypoplasia: Identification of Novel Variants in an Iranian Cohort.

Genetic and Clinical Insights into Pontocerebellar Hypoplasia: Identification of Novel Variants in an Iranian Cohort.

Journal: European journal of medical genetics
Published: August 11, 2025
Showing 1-12 of 295

Last Updated: 04/28/2026