Pelizaeus-Merzbacher Disease Latest Advances

Find the Latest Research About Pelizaeus-Merzbacher Disease

Last Updated: 09/26/2026

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Found 2892 publications

From PLP1 Misfolding to Oligodendrocyte Degeneration: A Proteostasis-Centered Framework for Pelizaeus-Merzbacher Disease.

From PLP1 Misfolding to Oligodendrocyte Degeneration: A Proteostasis-Centered Framework for Pelizaeus-Merzbacher Disease.

Journal: Cells
Published: June 21, 2026

Clinical and Genetic Characteristics of Children with Pelizaeus-Merzbacher Disease.

Clinical and Genetic Characteristics of Children with Pelizaeus-Merzbacher Disease.

Journal: Journal of child neurology
Published: June 21, 2026

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

Bridging the Gap: Baló Concentric Sclerosis-Like Leukoencephalopathy in Chronic Cocaine Use: A 1-Year Clinical and Imaging Follow-Up of 2 Cases.

Bridging the Gap: Baló Concentric Sclerosis-Like Leukoencephalopathy in Chronic Cocaine Use: A 1-Year Clinical and Imaging Follow-Up of 2 Cases.

Journal: Neurology
Published: May 08, 2026

Multimodal rehabilitation in PLP1-associated spastic paraparesis: a case report with clinical and biomechanical outcomes.

Multimodal rehabilitation in PLP1-associated spastic paraparesis: a case report with clinical and biomechanical outcomes.

Journal: Frontiers in rehabilitation sciences
Published: March 24, 2026

A canine PLP1 missense variant differentiates oligodendrocyte maturation in connatal and classical Pelizaeus-Merzbacher disease.

A canine PLP1 missense variant differentiates oligodendrocyte maturation in connatal and classical Pelizaeus-Merzbacher disease.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 17, 2026

Bilateral optic neuritis preceding a Baló concentric sclerosis lesion: A case report and literature review.

Bilateral optic neuritis preceding a Baló concentric sclerosis lesion: A case report and literature review.

Journal: Journal of neuroimmunology
Published: December 22, 2025

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

Acute Liver Failure following Valproate Exposure in a Teenager with Homozygous POLG c.2243G>C (p.Trp748Ser) Mutation: Late-Onset Presentation and Successful Liver Transplantation - A Case Report.

Acute Liver Failure following Valproate Exposure in a Teenager with Homozygous POLG c.2243G>C (p.Trp748Ser) Mutation: Late-Onset Presentation and Successful Liver Transplantation - A Case Report.

Journal: Molecular syndromology
Published: November 25, 2025

Significance of a Higher-Than-Expected Resonance at a 2.02 ppm Chemical Shift on 1H-Magnetic Resonance Spectroscopy (1H-MRS) in Neuroimaging.

Significance of a Higher-Than-Expected Resonance at a 2.02 ppm Chemical Shift on 1H-Magnetic Resonance Spectroscopy (1H-MRS) in Neuroimaging.

Journal: Cureus
Published: November 25, 2025

Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.

Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.

Journal: Neurobiology of disease
Published: November 20, 2025

Spatially concentrated adenine base editors efficiently correct PLP1 mutations in oligodendrocytes.

Spatially concentrated adenine base editors efficiently correct PLP1 mutations in oligodendrocytes.

Journal: Nucleic acids research
Published: September 29, 2025
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Last Updated: 09/26/2026