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Last Updated: 10/31/2025

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Found 2070 publications

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy.

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy.

Journal: Cureus
Published: September 18, 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

Stem cell and gene therapies for leukodystrophies.

Stem cell and gene therapies for leukodystrophies.

Journal: Molecular therapy. Methods & clinical development
Published: August 21, 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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences
Published: August 12, 2025

Evidence Regarding Metachromatic Leukodystrophy Newborn Screening.

Evidence Regarding Metachromatic Leukodystrophy Newborn Screening.

Journal: Pediatrics
Published: August 08, 2025

TMEM63A, associated with hypomyelinating leukodystrophies, is an evolutionarily conserved regulator of myelination.

TMEM63A, associated with hypomyelinating leukodystrophies, is an evolutionarily conserved regulator of myelination.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: July 22, 2025

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.

Journal: Journal of clinical medicine
Published: July 17, 2025

Exacerbation of absence seizures by central prolactin in female taiep rats: An animal model of epilepsy-prone leukodystrophy.

Exacerbation of absence seizures by central prolactin in female taiep rats: An animal model of epilepsy-prone leukodystrophy.

Journal: Epilepsy & behavior : E&B
Published: July 12, 2025

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

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

Journal: ACS nano
Published: July 02, 2025
Showing 1-12 of 2,070

Last Updated: 10/31/2025