about
Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseasesMutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseClinical and molecular phenotype of Aicardi-Goutieres syndromeHypomyelinating leukodystrophies: translational research progress and prospectsMutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureA de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumNew-onset afebrile seizures in infants: role of neuroimaging.Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease.Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairmentLysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.SCN8A encephalopathy: Research progress and prospectsMolecular and clinical genetics of mitochondrial diseases due to POLG mutations.Novel (ovario) leukodystrophy related to AARS2 mutationsTremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.TUBB4A de novo mutations cause isolated hypomyelination.Time series proteome profiling to study endoplasmic reticulum stress response.Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.Focal central white matter lesions in Alexander disease.MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesMRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.GFAP mutations, age at onset, and clinical subtypes in Alexander diseaseDisease specific therapies in leukodystrophies and leukoencephalopathies.A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesRecessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid.ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T CellsRecessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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Adeline Vanderver
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0000-0002-6290-6751