Adeline L. Vanderver

Pediatric Neurology | Neurology

3401 Civic Ctr Blvd
Philadelphia, PA 19104

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 220 publications

Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

Journal: medRxiv : the preprint server for health sciences

Published: June 05, 2026

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A.

Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A.

Journal: Stem cell research

Published: May 01, 2026

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation.

Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation.

Journal: Annals of clinical and translational neurology

Published: February 08, 2026

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Journal: Molecular genetics and metabolism

Published: December 16, 2025

Design of a Pediatric Low Motor Function Item Battery in leukodystrophies.

Design of a Pediatric Low Motor Function Item Battery in leukodystrophies.

Journal: Molecular genetics and metabolism

Published: December 09, 2025

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Journal: Neurology

Published: November 13, 2025

Rigorous genetic diagnosis review in natural history studies.

Rigorous genetic diagnosis review in natural history studies.

Journal: Orphanet journal of rare diseases

Published: November 04, 2025

Adult-onset STING-associated vasculopathy.

Adult-onset STING-associated vasculopathy.

Journal: Journal of human immunity

Published: November 04, 2025

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease.

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease.

Journal: Annals of clinical and translational neurology

Published: October 13, 2025

Showing 1-12 of 220

Last Updated: 09/26/2026