Cerebellar Hypoplasia Latest Advances

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Journal: Ophthalmic genetics

Published: March 08, 2026

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Journal: The American journal of case reports

Published: February 28, 2026

CASK hypomorph mice display cone photoreceptor dysfunction.

Journal: bioRxiv : the preprint server for biology

Published: February 06, 2026

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins.

Journal: Cureus

Published: January 29, 2026

Cerebellar hypoplasia caused by CASK deficiency.

Journal: Molecules and cells

Published: January 02, 2026

Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system.

Journal: bioRxiv : the preprint server for biology

Published: December 19, 2025

CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.

Journal: Prenatal diagnosis

Published: November 15, 2025

Prenatal Diagnosis of VLDLR-associated Cerebellar Hypoplasia via Fetal MRI.

Journal: Neuropediatrics

Published: November 10, 2025

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 13, 2025

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Journal: American journal of medical genetics. Part A

Published: September 29, 2025

Neonatal Dandy-Walker syndrome: a case report.

Journal: Frontiers in pediatrics

Published: September 25, 2025

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

Cerebellar Hypoplasia Latest Advances

Find the Latest Research About Cerebellar Hypoplasia

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

CASK hypomorph mice display cone photoreceptor dysfunction.

CASK hypomorph mice display cone photoreceptor dysfunction.

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins.

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins.

Cerebellar hypoplasia caused by CASK deficiency.

Cerebellar hypoplasia caused by CASK deficiency.

Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system.

Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system.

CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.

CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.

Prenatal Diagnosis of VLDLR-associated Cerebellar Hypoplasia via Fetal MRI.

Prenatal Diagnosis of VLDLR-associated Cerebellar Hypoplasia via Fetal MRI.

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Neonatal Dandy-Walker syndrome: a case report.

Neonatal Dandy-Walker syndrome: a case report.

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.