Pontocerebellar Hypoplasia Latest Advances

Fetal Expression of Pontocerebellar Hypoplasia Linked to Pathogenic COASY Variants.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: April 26, 2026

Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.

Journal: Human genome variation

Published: February 25, 2026

Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9.

Journal: Cerebellum (London, England)

Published: February 24, 2026

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.

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.

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.

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

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 01, 2026

PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy.

Journal: Molecular syndromology

Published: January 26, 2026

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

Journal: International journal of neonatal screening

Published: January 23, 2026

Rare Genetic Diseases with Founder Effect in Roma Children.

Journal: Life (Basel, Switzerland)

Published: January 18, 2026

Pontocerebellar Hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization.

Journal: The Journal of biological chemistry

Published: November 18, 2025

Pontocerebellar Hypoplasia Latest Advances

Find the Latest Research About Pontocerebellar Hypoplasia

Fetal Expression of Pontocerebellar Hypoplasia Linked to Pathogenic COASY Variants.

Fetal Expression of Pontocerebellar Hypoplasia Linked to Pathogenic COASY Variants.

Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.

Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.

Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9.

Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9.

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

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

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

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

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.

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.

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

PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy.

PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy.

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

Rare Genetic Diseases with Founder Effect in Roma Children.

Rare Genetic Diseases with Founder Effect in Roma Children.

Pontocerebellar Hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization.

Pontocerebellar Hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization.