Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of Adult-Onset Alexander Disease
The article “Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of…
Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review
The article “Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and…
A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report
The article “A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous…
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome
The study “Accumulation of Ether Phospholipids in Induced Pluripotent Stem Cells and Oligodendrocyte-Lineage Cells Established…
Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease
The article, “Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease”, explores innovative…
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy
The study publicshed in the New England Journal of Medicine titled “Hematologic Cancer after Gene…
Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study
Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study Overview: The…
Gene therapy shows long-term benefit for patients with Cerebral adrenoleukodystrophy (CALD)
Gene therapy shows long-term benefit for patients with Cerebral adrenoleukodystrophy (CALD) Overview: In a study…