Aicardi-Goutières Syndrome: Insights from a Middle Eastern Case Series.

Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice.

POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review.

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.

Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndrome.

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

Hemiconvulsion-hemiplegia-epilepsy syndrome in a child with an underlying hypomyelinating leukodystrophy: a previously unreported association.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.

MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2.

The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability.

Expanding the Phenotype Spectrum of β-Mannosidosis.

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

Neonatal sevoflurane exposure disrupted fatty acids metabolism, leading to hypomyelination and neurological impairments.

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

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

Inactivation of Thyroid Hormone Transporters Mct8/Oatp1c1 in Mouse Brain Endothelial Cells Causes Region-Specific Alterations in Central Thyroid Hormone Signaling.

Hypomyelination Leukodystrophy Type 11 (HLD11) Presenting with Diabetes: A Case Report and Literature Review.

The Attenuated Phenotype of CNTNAP1-Related Neuropathy Mimics Spastic-Dystonic Cerebral Palsy.

POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.

An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review.

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

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.

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

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.

Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.

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

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Inherited white matter disorders: Hypomyelination (myelin disorders).

LEUDEN Syndrome: A Novel Hypomyelinating Leukoencephalopathy in a 1-Year-Old Girl.

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Deep neurological phenotyping in oculo-dento-digital syndrome.

Progress in leukodystrophies with zebrafish.

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum.

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

The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review.

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.

Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.

Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report.

Treacher Collins Syndrome Associated with Disproportionate Nervous System, Cardiovascular, Otologic Complications Among 1,114 Patients.

Thyroid hormone transporter Mct8/Oatp1c1 deficiency compromises proper oligodendrocyte maturation in the mouse CNS.

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

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

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

The First Case of 4H Syndrome with Type 1 Diabetes Mellitus.

Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy.

Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders.

SARS-CoV-2 (COVID-19) as a possible risk factor for neurodevelopmental disorders.

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.

Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.

Prolonged, Low-Level Exposure to the Marine Toxin, Domoic Acid, and Measures of Neurotoxicity in Nonhuman Primates.

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report.

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.

A new entity of hypomyelination with atrophy of basal ganglia and cerebellum-like syndrome with bilateral developmental cataract.

Mutations in TAF8 cause a neurodegenerative disorder.

Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies.

[Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience.

Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.

Clinical and imaging characteristics of 4H syndrome: A case report.

Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes.

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.

ASD-like behaviors, a dysregulated inflammatory response and decreased expression of PLP1 characterize mice deficient for sialyltransferase ST3GAL5.

Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.

MyelTracer: A Semi-Automated Software for Myelin g-Ratio Quantification.

Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.

MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome.

Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy.

Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

Oligodendrocyte progenitor cell maturation is dependent on dual function of MCT8 in the transport of thyroid hormone across brain barriers and the plasma membrane.

BAP31: Physiological functions and roles in disease.

Neuronal deletion of Wwox, associated with WOREE syndrome, causes epilepsy and myelin defects.

A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.

C21orf91 Regulates Oligodendroglial Precursor Cell Fate-A Switch in the Glial Lineage?

A hypomyelinating leukodystrophy in German Shepherd dogs.

Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant.

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

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

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

Effects of endocrine disrupting chemicals on myelin development and diseases.

A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy.

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.

FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy.

The deficiency of myelin in the mutant taiep rat induces a differential immune response related to protection from the human parasite Trichinella spiralis.

Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.

Schimke XLID syndrome results from a deletion in BCAP31.

De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.

N-Wasp Regulates Oligodendrocyte Myelination.

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

MRI Features in a Rat Model of H-ABC Tubulinopathy.

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

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

Pontocerebellar Hypoplasia: a Pattern Recognition Approach.

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review.

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.

West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother.

Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.

CNS manifestations in patients with telomere biology disorders.

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

Aberrant Oligodendrogenesis in Down Syndrome: Shift in Gliogenesis?

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

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

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

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

BCAP31-related syndrome: The first de novo report.

Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome.

Animal models in the neurotoxicology of 2,4-D.

Oligodendroglial Lineage Cells in Thyroid Hormone-Deprived Conditions.

Leukodystrophies and genetic leukoencephalopathies in children.

Agenesis and Hypomyelination of Corpus Callosum in Mice Lacking Nsun5, an RNA Methyltransferase.

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.

Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.

Cerebral hypomyelination associated with biallelic variants of FIG4.

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

A novel image segmentation method for the evaluation of inflammation-induced cortical and hippocampal white matter injury in neonatal mice.

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

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

Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy.

[The importance of semiology and biochemistry in the diagnostic management of a peroxisomal biogenesis disorder].

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.

Leukodystrophy with disorders of sex development due to WT1 mutations.

Protective role of the lipid phosphatase Fig4 in the adult nervous system.

A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.

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

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

Neurogenetics of Pelizaeus-Merzbacher disease.

Myelin oligodendrocyte glycoprotein and aquaporin-4 antibodies are highly specific in children with acquired demyelinating syndromes.

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

Ataxia With Hypodontia: A Unique Leukodystrophy.

Brain Atrophy and Hypomyelination Associated with Iatrogenic Cushing Syndrome in an Infant.

Persistence of Zika Virus After Birth: Clinical, Virological, Neuroimaging, and Neuropathological Documentation in a 5-Month Infant With Congenital Zika Syndrome.

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

Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination.

H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Screening study of TUBB4A in isolated dystonia.

Amino acid synthesis deficiencies.

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

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

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

Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla.

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy.

Congenital infection with atypical porcine pestivirus (APPV) is associated with disease and viral persistence.

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

Characterization of SPATA5-related encephalopathy in early childhood.

A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.

Control of seizures by ketogenic diet-induced modulation of metabolic pathways.

Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish.

Cockayne syndrome: a diffusion tensor imaging and volumetric study.

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

Patchy white matter hyperintensity in ring chromosome 18 syndrome.

Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy.

Metabolic, endocrine, and other genetic disorders.

Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.

Classification of involuntary movements in dogs: Tremors and twitches.

SNX27, a protein involved in down syndrome, regulates GPR17 trafficking and oligodendrocyte differentiation.

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) is a Differential Diagnosis for Pallidopyramidal Syndromes with Thin Corpus Callosum.

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

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Cellular and network-level adaptations to in utero methadone exposure along the ventral respiratory column in the neonate rat.

The clinical syndrome of dystonia with anarthria/aphonia.

Down Syndrome Developmental Brain Transcriptome Reveals Defective Oligodendrocyte Differentiation and Myelination.

[Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome].

Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony.

Developmental neurotoxicity of inhaled ambient ultrafine particle air pollution: Parallels with neuropathological and behavioral features of autism and other neurodevelopmental disorders.

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.

Mutations in RNF216 do not cause 4H syndrome.

Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.