Diffusion Tensor Imaging and Fiber Tractography Analysis in Patients with Pelizaeus-Merzbacher Disease.

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

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

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

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

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

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

Integrated stress response inhibition prolongs the lifespan of a Pelizaeus-Merzbacher disease mouse model by increasing oligodendrocyte survival.

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.

Facing the challenge of effective dosing, safety, and timing of intrathecal gene therapy for neurological disorders.

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative.

Pelizaeus-Merzbacher disease in children: A case report.

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective.

Diagnosing and Managing Pelizaeus-Merzbacher Disease: A Pediatric Struggle.

Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances.

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Molecular pathologies and therapies for Pelizaeus-Merzbacher disease.

Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.

Neuroglial Pathophysiology of Leukodystrophies.

Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.

Pelizaeus-Merzbacher Disease as a Cause of Early-Onset Developmental Delay: A Case Report.

Single cell RNAseq to identify subpopulations of glial progenitors in iPSC-derived oligodendroglial lineage cultures.

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

A copy number variant overlapping the 3'UTR of PLP1 causes spastic paraplegia.

Neuroglia in leukodystrophies.

POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.

A high throughput, high content screen for non-toxic small molecules that reduce levels of the nuclear lamina protein, Lamin B1.

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient.

Prominent Head and Arm Tremor in Late-Onset Pelizaeus-Merzbacher-Like Disease 1.

[Percutaneous suture lateralization for neonatal laryngospasm caused by Pelizaeus-Merzbacher disease: a case report].

Diverse functions of DEAD-box proteins in oligodendrocyte development, differentiation, and homeostasis.

Inherited white matter disorders: Hypomyelination (myelin disorders).

Knockdown of Rab9 Recovers Defective Morphological Differentiation Induced by Chemical ER Stress Inducer or PMD-Associated PLP1 Mutant Protein in FBD-102b Cells.

CRISPR/CasRx-Mediated Knockdown of Rab7B Restores Incomplete Cell Shape Induced by Pelizaeus-Merzbacher Disease-Associated PLP1 p.Ala243Val.

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.

Atlas-based assessment of hypomyelination: Quantitative MRI in Pelizaeus-Merzbacher disease.

Audio-vestibular Findings in a Patient with Pelizaeus- Merzbacher Disease.

Developmental Delay, Hypomyelination, and Nystagmus: Case and Approach.

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities.

Alleviating Neurodegenerative Diseases Associated with Mitochondrial Defects by Therapeutic Biomolecules.

Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.

A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy.

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.

Generation of a fluorescent oligodendrocyte reporter line in human induced pluripotent stem cells.

Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter.

An Open-Label Administration of Bioavailable-Form Curcumin in Patients With Pelizaeus-Merzbacher Disease.

Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing.

Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.

Preserved Auditory Steady State Response and Envelope-Following Response in Severe Brainstem Dysfunction Highlight the Need for Cross-Checking.

A Patient With Pelizaeus-Merzbacher Disease Caused by a c.67G>A Mutation in the PLP1 Gene.

The natural history of Pelizaeus-Merzbacher disease caused by PLP1 duplication: A multiyear case series.

Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report.

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.

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge.

Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.

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.

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.

Knockdown of Rab7B, But Not of Rab7A, Which Antagonistically Regulates Oligodendroglial Cell Morphological Differentiation, Recovers Tunicamycin-Induced Defective Differentiation in FBD-102b Cells.

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.

Redox Imbalance in Neurological Disorders in Adults and Children.

A Rare Case of Hypomyelinating Leukodystrophy and Its Management: A Case Report and Literature Review.

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

Pelizaeus-Merzbacher Disease in a 4-Year-Old Female Child: "A Rare Case Report".

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.

Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact.

In Silico Structural Analysis Predicting the Pathogenicity of PLP1 Mutations in Multiple Sclerosis.

Identification of Tau protein as a novel marker for maturation and pathological changes of oligodendrocytes.

Early recognition of patients with leukodystrophies.

Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.

Epidural Anesthesia and Continuous Epidural Analgesia in a Pediatric Patient With Pelizaeus-Merzbacher Disease: A Case Report.

Identification of PMD subgroups using a myelination score for PMD.

Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology.

Phenotypic continuum of NFU1-related disorders.

Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.

Magnetic Resonance Imaging and Spectroscopy Analysis in a Pelizaeus-Merzbacher Disease Rat Model.

Altered high-energy phosphate and membrane metabolism in Pelizaeus-Merzbacher disease using phosphorus magnetic resonance spectroscopy.

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia.

Human myelin proteolipid protein structure and lipid bilayer stacking.

A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder.

Generation of functional human oligodendrocytes from dermal fibroblasts by direct lineage conversion.

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.

Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen.

Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease.

Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by Ibuprofen.

Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.

Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.

Emerging Role of the Ketogenic Dietary Therapies beyond Epilepsy in Child Neurology.

Lamin B1 Accumulation's Effects on Autosomal Dominant Leukodystrophy (ADLD): Induction of Reactivity in the Astrocytes.

Knockdown of Golgi Stress-Responsive Caspase-2 Ameliorates HLD17-Associated AIMP2 Mutant-Mediated Inhibition of Oligodendroglial Cell Morphological Differentiation.

Prevalence of Human Papillomavirus (HPV) 16 and 18 in Oral Malignant and Potentially Malignant Disorders: A Polymerase Chain Reaction Analysis - A Comparative Study.

Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.

A novel non-human primate model of Pelizaeus-Merzbacher disease.

Identifying oligodendrocyte enhancers governing Plp1 expression.

Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report.

Pathology of the neurovascular unit in leukodystrophies.

Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect.

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.

Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.

Investigating oligodendrocyte connexins: Heteromeric interactions between Cx32 and mutant or wild-type forms of Cx47 do not contribute to or modulate gap junction function.

Hypomyelinating Leukodystrophy 15 (HLD15)-Associated Mutation of EPRS1 Leads to Its Polymeric Aggregation in Rab7-Positive Vesicle Structures, Inhibiting Oligodendroglial Cell Morphological Differentiation.

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.

One-step Reprogramming of Human Fibroblasts into Oligodendrocyte-like Cells by SOX10, OLIG2, and NKX6.2.

Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report.

EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease.

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.

Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS).

Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease.

Live-cell superresolution pathology reveals different molecular mechanisms of pelizaeus-merzbacher disease.

Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.

Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160.

[Analysis of genomic copy number variants in a patient with congenital type Pelizaeus-Merzbacher disease].

Anaphylactic Reaction to Tranexamic Acid During Posterior Spinal Fusion: A Case Report.

Expression of kinase-deficient MEK2 ameliorates Pelizaeus-Merzbacher disease phenotypes in mice.

ASO rescues Pelizaeus-Merzbacher disease.

Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease.

A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay.

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.

Rehabilitative management of an infant with Pelizaeus-Merzbacher disease: A case report.

Generation of a human iPSC line (MPIi006-A) from a patient with Pelizaeus-Merzbacher disease.

Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease.

Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene.

Epilepsy in children with leukodystrophies.

Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy.

PP1C and PP2A are p70S6K Phosphatases Whose Inhibition Ameliorates HLD12-Associated Inhibition of Oligodendroglial Cell Morphological Differentiation.

Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.

CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.

Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses.

Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation.

Unfolded protein response in myelin disorders.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation.

Advantages of ddPCR in detection of PLP1 duplications.

Magnetic resonance imaging traits may help to differentiate Pelizaeus-Merzbacher and Pelizaeus-Merzbacher-like disease.

Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.

Current Status and Use of Resources of Lysosomal Storage Diseases: Analysis of a Spanish Claims Database.

Long-Term Safety, Immunologic Response, and Imaging Outcomes following Neural Stem Cell Transplantation for Pelizaeus-Merzbacher Disease.

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies.

Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1.

Gene suppressing therapy for Pelizaeus-Merzbacher disease using artificial microRNA.

Rare Case of Female with Pelizaeus Mertzbacher Disease due to deletion of Proteolipid Protein 1: A Case Report.

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease.

Genetic mimics of cerebral palsy.

Phenotype of PLP1-related Disorder Caused by Novel Mutation: A Case Report.

A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.

PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations.

Brain Diffusion Imaging and Tractography to Distinguish Clinical Severity of Human PLP1-Related Disorders.

Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.

Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy.

Chemical Screening Identifies Enhancers of Mutant Oligodendrocyte Survival and Unmasks a Distinct Pathological Phase in Pelizaeus-Merzbacher Disease.

Anesthetic challenges and successful management of a child with Pelizaeus-Merzbacher disease using general and caudal anesthesia.

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Induction of myelinating oligodendrocytes in human cortical spheroids.

Protective effect of 4-Phenylbutyrate against proteolipid protein mutation-induced endoplasmic reticulum stress and oligodendroglial cell death.

Anesthetic Management of a Pediatric Patient With Pelizaeus-Merzbacher Syndrome: A Case Report.

Rapid and Specific Immunomagnetic Isolation of Mouse Primary Oligodendrocytes.

Insertion of proteolipid protein into mitochondria but not DM20 regulates metabolism of cells.

Auditory function in Pelizaeus-Merzbacher disease.

Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia.

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Neurogenetics of Pelizaeus-Merzbacher disease.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

[Borderline phenotype of Pelizaeus-Merzbacher disease].

[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus].

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease.

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders.

Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus-Merzbacher-Like Disease.

Diseases of connexins expressed in myelinating glia.

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress.

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.