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Last Updated: 01/07/2026

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Found 2088 publications

An Automated Classification of Brain White Matter Inherited Disorders (Leukodystrophy) Using MRI Image Features.

An Automated Classification of Brain White Matter Inherited Disorders (Leukodystrophy) Using MRI Image Features.

Journal: Biomedical physics & engineering express
Published: November 24, 2025

Adult-onset Familial TUBB4A-related Leukodystrophy Caused by c.286G>A (p.Gly96Arg) in a Korean Family: A Case Report.

Adult-onset Familial TUBB4A-related Leukodystrophy Caused by c.286G>A (p.Gly96Arg) in a Korean Family: A Case Report.

Journal: Journal of movement disorders
Published: October 25, 2025

Comments on: "Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis".

Comments on: "Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis".

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 06, 2025

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation.

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation.

Journal: Annals of medicine and surgery (2012)
Published: September 29, 2025

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy.

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy.

Journal: Cureus
Published: September 18, 2025

Chorea in Hereditary Leukodystrophies - Overview of Two Cases.

Chorea in Hereditary Leukodystrophies - Overview of Two Cases.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: September 16, 2025

Correction to "Self-Assembly of Accumulated Sphingolipids into Cytotoxic Fibrils in Globoid Cell Leukodystrophy and Their Inhibition by Small Molecules in Vitro".

Correction to "Self-Assembly of Accumulated Sphingolipids into Cytotoxic Fibrils in Globoid Cell Leukodystrophy and Their Inhibition by Small Molecules in Vitro".

Journal: ACS nano
Published: September 10, 2025

Chimeric Enzymes Enhance Treatment Potential For Globoid Cell Leukodystrophy through Hematopoietic Stem Cell Gene Therapy.

Chimeric Enzymes Enhance Treatment Potential For Globoid Cell Leukodystrophy through Hematopoietic Stem Cell Gene Therapy.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: August 29, 2025

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.

Journal: Annals of the Child Neurology Society
Published: August 26, 2025

Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy.

Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy.

Journal: Case reports in psychiatry
Published: August 22, 2025

POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.

POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.

Journal: Cureus
Published: August 21, 2025

Stem cell and gene therapies for leukodystrophies.

Stem cell and gene therapies for leukodystrophies.

Journal: Molecular therapy. Methods & clinical development
Published: August 21, 2025
Showing 1-12 of 2,088

Last Updated: 01/07/2026