List of works - Adeline Vanderver

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

scientific article

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

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

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

scientific article

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

scientific article

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

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

scientific article published on October 2010

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

scientific article

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

scientific article

Novel (ovario) leukodystrophy related to AARS2 mutations

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

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

scientific article

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

scientific article published on 27 October 2011

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 7 July 2015

Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases

scientific article

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

scientific article

Hypomyelinating leukodystrophies: translational research progress and prospects

scientific article

Therapies in Aicardi-Goutières syndrome.

scientific article published on January 2014

Whole exome sequencing in patients with white matter abnormalities.

scientific article published on 09 May 2016

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

scientific article published on 31 October 2016

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

scientific article

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

scientific article

SCN8A encephalopathy: Research progress and prospects

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

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

scientific article

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

scientific article published on 29 August 2016

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

scientific article

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

scientific article

TUBB4A de novo mutations cause isolated hypomyelination

scientific article

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

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

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

scientific article published on 28 May 2013

Time series proteome profiling to study endoplasmic reticulum stress response.

scientific article

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

scientific article

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

scientific article

New-onset afebrile seizures in infants: role of neuroimaging

scientific article

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

scientific article

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

scientific article

Disease specific therapies in leukodystrophies and leukoencephalopathies

scientific article

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

scientific article published on 7 October 2013

Diffuse hypomyelination is not obligate for POLR3-related disorders

scientific article published on 30 March 2016

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

scientific article published on 18 November 2015

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

scientific article published on December 2012

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

scientific article published on 19 January 2009

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

scientific article published on 13 July 2016

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

scientific article published on 10 April 2017

List of works by Adeline Vanderver

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

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

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

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

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

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

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

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

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

Novel (ovario) leukodystrophy related to AARS2 mutations

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

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

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

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

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

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

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

Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Hypomyelinating leukodystrophies: translational research progress and prospects

Therapies in Aicardi-Goutières syndrome.

Whole exome sequencing in patients with white matter abnormalities.

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

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

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

SCN8A encephalopathy: Research progress and prospects

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

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

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

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

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

TUBB4A de novo mutations cause isolated hypomyelination

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

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

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

Time series proteome profiling to study endoplasmic reticulum stress response.

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

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

New-onset afebrile seizures in infants: role of neuroimaging

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

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

Disease specific therapies in leukodystrophies and leukoencephalopathies

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

Diffuse hypomyelination is not obligate for POLR3-related disorders

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

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

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

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

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