Pontocerebellar Hypoplasia Latest Advances

Find the Latest Research About Pontocerebellar Hypoplasia

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 308 publications

Systematic comparison of pathogenic variants of the RNA exosome gene EXOSC3/RRP40 in Saccharomyces cerevisiae reveals variant-specific functional consequences.

Systematic comparison of pathogenic variants of the RNA exosome gene EXOSC3/RRP40 in Saccharomyces cerevisiae reveals variant-specific functional consequences.

Journal: bioRxiv : the preprint server for biology
Published: August 20, 2026

Fetal Expression of Pontocerebellar Hypoplasia Linked to Pathogenic COASY Variants.

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.

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.

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

Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.

Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.

Journal: Kidney international
Published: February 10, 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

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

PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy.

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.

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
Showing 1-12 of 308

Last Updated: 09/26/2026