• A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy
• A Patient With Pelizaeus-Merzbacher Disease Caused by a c.67G>A Mutation in the PLP1 Gene
• A Patient With Pelizaeus-Merzbacher Disease Caused by a c.67G>A Mutation in the PLP1 Gene
• A Rare Case of Hypomyelinating Leukodystrophy and Its Management: A Case Report and Literature Review
• A Recurrent <em>De Novo</em> Variant in <em>EIF2AK2</em> Causes a Hypomyelinating Leukodystrophy
• Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter
• Alleviating Neurodegenerative Diseases Associated with Mitochondrial Defects by Therapeutic Biomolecules
• An Open-Label Administration of Bioavailable-Form Curcumin in Patients With Pelizaeus-Merzbacher Disease
• Audio-vestibular Findings in a Patient with Pelizaeus- Merzbacher Disease
• Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease
• Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates
• Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <em>POLR3A</em>, <em>POLR3B</em> and <em>POLR1C</em>
• Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development
• Description of Phenotypic Heterogeneity in a <em>GJC2</em>-Related Family and Literature Review
• Developmental Delay, Hypomyelination, and Nystagmus: Case and Approach
• Generation of a fluorescent oligodendrocyte reporter line in human induced pluripotent stem cells
• Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing
• Gross Motor Function in Pediatric Onset <em>TUBB4A</em>-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <em>TUBB4A</em>
• Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
• Identification of Tau protein as a novel marker for maturation and pathological changes of oligodendrocytes
• Imaging findings and MRI patterns in a cohort of 18q chromosomal abnormalities
• In Silico Structural Analysis Predicting the Pathogenicity of PLP1 Mutations in Multiple Sclerosis
• Knockdown of Rab7B, But Not of Rab7A, Which Antagonistically Regulates Oligodendroglial Cell Morphological Differentiation, Recovers Tunicamycin-Induced Defective Differentiation in FBD-102b Cells
• Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
• Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47
• Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome <em>c</em> oxidase deficiency: a case report
• Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge
• Pelizaeus-Merzbacher Disease
• Pelizaeus-Merzbacher Disease
• Pelizaeus-Merzbacher Disease in a 4-Year-Old Female Child: "A Rare Case Report"
• Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact
• Pelizaeus-Merzbacher disease: on the cusp of myelin medicine
• Preserved Auditory Steady State Response and Envelope-Following Response in Severe Brainstem Dysfunction Highlight the Need for Cross-Checking
• Redox Imbalance in Neurological Disorders in Adults and Children
• Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing
• The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study
• The natural history of Pelizaeus-Merzbacher disease caused by PLP1 duplication: A multiyear case series