List of works - Adeline Vanderver

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

scientific article

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

scientific article

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

scientific article

A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells

scientific article published on 21 November 2008

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

scientific article published on 31 October 2016

ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells

scientific article published on 2 December 2015

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation

scientific article

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies

scientific article

Alexander Disease.

scientific article

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

scientific article published on 28 May 2013

Analysis ofLMNB1Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Anti–N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

scientific article

Astrocytes, an active player in Aicardi-Goutières syndrome

scientific article published on 01 May 2018

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

scientific article

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

scientific article published on 7 October 2013

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

scientific article

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

scientific article published on 19 January 2009

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

scientific article

Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid

scientific article published on February 2012

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

scientific article

Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases

scientific article

Consensus statement on preventive and symptomatic care of leukodystrophy patients

scientific article published on 27 December 2014

Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

scientific article published in November 2016

Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease

scientific article

Diffuse hypomyelination is not obligate for POLR3-related disorders

scientific article published on 30 March 2016

Disease specific therapies in leukodystrophies and leukoencephalopathies

scientific article

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

article

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

scientific article

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

scientific article published on 13 February 2013

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

scientific article published on 01 October 2020

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

scientific article published on 23 June 2020

Family history of autoimmune disease in patients with Aicardi-Goutières syndrome

scientific article

Focal central white matter lesions in Alexander disease

scientific article

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

scientific article

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease

scientific article

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

scientific article published on 30 March 2014

Genetic Leukoencephalopathies in Adults

scientific article published on June 2016

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

article

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

scientific article published on 10 April 2017

Genome sequencing in persistently unsolved white matter disorders

scientific article published on 07 January 2020

Hypomyelinating leukodystrophies: translational research progress and prospects

scientific article

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

scientific article

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

scientific article

If at first you don't succeed, test again (for peroxisomal biogenesis disorders) ⬇️

scientific article published on March 28, 2012

Isolated cranial nerve enhancement in metachromatic leukodystrophy

scientific article published on May 2009

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

scientific article

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

scientific article

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

scientific article

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

scientific article

MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency

scientific article

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

scientific article published on October 2010

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

scientific article

Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report

scientific article published on 30 April 2014

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

scientific article

More than hypomyelination in Pol-III disorder

scientific article published on January 2013

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

scientific article

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

scientific article published on 25 January 2013

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

scientific article published on 29 August 2016

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415.

scientific article

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

scientific article

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

scientific article

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

scientific article published on 20 July 2017

Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects

scientific article

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

scientific article published on 18 November 2015

Neurotransmitter abnormalities and response to supplementation in SPG11.

scientific article

New-onset afebrile seizures in infants: role of neuroimaging

scientific article

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

scientific article published on 13 September 2016

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

scientific article published on 30 August 2017

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

scientific article published on 7 July 2015

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

scientific article published on 27 October 2011

Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders

scientific article published on December 2012

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

scientific article published on 20 August 2017

SCN8A encephalopathy: Research progress and prospects

scientific article

Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder

scientific article

TUBB4A de novo mutations cause isolated hypomyelination

scientific article

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

scientific article published on 28 May 2020

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

scientific article published on 13 July 2016

Therapies in Aicardi-Goutières syndrome.

scientific article published on January 2014

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

scientific article published on 11 February 2014

Time series proteome profiling to study endoplasmic reticulum stress response.

scientific article

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

scientific article

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

scientific article

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

scientific article

Update on leukodystrophies

Whole exome sequencing in patients with white matter abnormalities.

scientific article published on 09 May 2016

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans

scientific article

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

scientific article published on 26 August 2017

List of works by Adeline Vanderver

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies

Alexander Disease.

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

Analysis ofLMNB1Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Anti–N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Astrocytes, an active player in Aicardi-Goutières syndrome

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases

Consensus statement on preventive and symptomatic care of leukodystrophy patients

Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease

Diffuse hypomyelination is not obligate for POLR3-related disorders

Disease specific therapies in leukodystrophies and leukoencephalopathies

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

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

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

Family history of autoimmune disease in patients with Aicardi-Goutières syndrome

Focal central white matter lesions in Alexander disease

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Genetic Leukoencephalopathies in Adults

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Genome sequencing in persistently unsolved white matter disorders

Hypomyelinating leukodystrophies: translational research progress and prospects

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

If at first you don't succeed, test again (for peroxisomal biogenesis disorders) ⬇️

Isolated cranial nerve enhancement in metachromatic leukodystrophy

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

More than hypomyelination in Pol-III disorder

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415.

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

Neurotransmitter abnormalities and response to supplementation in SPG11.

New-onset afebrile seizures in infants: role of neuroimaging

Novel (ovario) leukodystrophy related to AARS2 mutations

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

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

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

SCN8A encephalopathy: Research progress and prospects