Cerebellar Hypoplasia Latest Advances

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

Journal: Neuropediatrics

Published: November 10, 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

Microcephaly, Cerebellar Hypoplasia, Enlarged Posterior Fossa and Polyhydramnios: Prenatal Phenotypes for CASK-Related Disorders.

Journal: Prenatal diagnosis

Published: August 28, 2025

Retinoblastoma in Dandy-Walker Syndrome.

Journal: Cureus

Published: August 08, 2025

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.

Journal: Molecular genetics and metabolism reports

Published: August 08, 2025

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

Journal: American journal of human genetics

Published: July 28, 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

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B.

Journal: Prenatal diagnosis

Published: July 18, 2025

Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel TUBA1A Variant.

Journal: Fetal diagnosis and therapy

Published: July 18, 2025

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.

Journal: Journal of human genetics

Published: June 14, 2025

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

Journal: bioRxiv : the preprint server for biology

Published: June 12, 2025

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

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

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.

Microcephaly, Cerebellar Hypoplasia, Enlarged Posterior Fossa and Polyhydramnios: Prenatal Phenotypes for CASK-Related Disorders.

Microcephaly, Cerebellar Hypoplasia, Enlarged Posterior Fossa and Polyhydramnios: Prenatal Phenotypes for CASK-Related Disorders.

Retinoblastoma in Dandy-Walker Syndrome.

Retinoblastoma in Dandy-Walker Syndrome.

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

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.

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B.

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B.

Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel TUBA1A Variant.

Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel TUBA1A Variant.

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.

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

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