Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant.

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy.

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

SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant.

Cochlear implantation in Childhood Ataxia with Central nervous system Hypomyelination Syndrome.

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.

Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Neuropsychological profile of POLR3A-related spastic ataxia.

First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.

Assessment the Efficacy of the CRISPR System for Inducing Mutations in the AIMP2 Gene to Create a Cell Line Model of HLD17 Disease.

Inherited white matter disorders: Hypomyelination (myelin disorders).

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

A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy.

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility.

In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population.

4-aminopyridine improves evoked potentials and ambulation in the taiep rat: A model of hypomyelination with atrophy of basal ganglia and cerebellum.

Case report: Neuropsychological assessment in a patient with 4H leukodystrophy.

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.

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.

Adult-Onset White Matter Vanishing Disease With Ovarian Failure in a Salvadoran Patient.

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

Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation.

A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.

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

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.

The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations.

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

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

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

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

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.

Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.

Progress in elucidating pathophysiology of mucolipidosis IV.

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

A hypomyelinating leukodystrophy in German Shepherd dogs.

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

Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.

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

Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.

Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison.

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

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.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient.

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.