Cerebellar Hypoplasia Latest Advances

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

Retinoblastoma in Dandy-Walker Syndrome.

Journal: Cureus

Published: August 08, 2025

Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion.

Journal: Ophthalmic surgery, lasers & imaging retina

Published: July 25, 2025

Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.

Journal: Journal of human genetics

Published: July 20, 2025

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

Journal: bioRxiv : the preprint server for biology

Published: June 12, 2025

Cache Valley virus serologically identified in sheep with congenitally malformed lambs in Alabama.

Journal: American journal of veterinary research

Published: June 12, 2025

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita.

Journal: Clinical genetics

Published: May 07, 2025

Jun N-Terminal Kinase Inhibitor Suppresses CASK Deficiency-Induced Cerebellar Granular Cell Death in MICPCH Syndrome Model Mice.

Journal: Cells

Published: April 17, 2025

Prenatal diagnosis of cerebellar hypoplasia in fetal ultrasound using deep learning under the constraint of the anatomical structures of the cerebellum and cistern.

Journal: Pediatric radiology

Published: April 15, 2025

Sculptors of cerebellar fissures and their potential as therapeutic targets for cerebellar dysfunction.

Journal: Frontiers in cellular neuroscience

Published: April 08, 2025

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: March 27, 2025

Neurodevelopmental Outcome in Isolated Vermian Hypoplasia: A Single-Center Retrospective Cohort Study and Literature Review.

Journal: Cerebellum (London, England)

Published: March 07, 2025

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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.

Retinoblastoma in Dandy-Walker Syndrome.

Retinoblastoma in Dandy-Walker Syndrome.

Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion.

Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion.

Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.

Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

Cache Valley virus serologically identified in sheep with congenitally malformed lambs in Alabama.

Cache Valley virus serologically identified in sheep with congenitally malformed lambs in Alabama.

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita.

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita.

Jun N-Terminal Kinase Inhibitor Suppresses CASK Deficiency-Induced Cerebellar Granular Cell Death in MICPCH Syndrome Model Mice.

Jun N-Terminal Kinase Inhibitor Suppresses CASK Deficiency-Induced Cerebellar Granular Cell Death in MICPCH Syndrome Model Mice.

Prenatal diagnosis of cerebellar hypoplasia in fetal ultrasound using deep learning under the constraint of the anatomical structures of the cerebellum and cistern.

Prenatal diagnosis of cerebellar hypoplasia in fetal ultrasound using deep learning under the constraint of the anatomical structures of the cerebellum and cistern.

Sculptors of cerebellar fissures and their potential as therapeutic targets for cerebellar dysfunction.

Sculptors of cerebellar fissures and their potential as therapeutic targets for cerebellar dysfunction.

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy.

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy.

Neurodevelopmental Outcome in Isolated Vermian Hypoplasia: A Single-Center Retrospective Cohort Study and Literature Review.

Neurodevelopmental Outcome in Isolated Vermian Hypoplasia: A Single-Center Retrospective Cohort Study and Literature Review.