Lista de obras - Adeline Vanderver - Dominio Público Uruguay

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Alexander Disease.

artículo científico publicado en 2016

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases

artículo científico publicado en 2014

Consensus statement on preventive and symptomatic care of leukodystrophy patients

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

Diffuse hypomyelination is not obligate for POLR3-related disorders

artículo científico publicado en 2016

Disease specific therapies in leukodystrophies and leukoencephalopathies

artículo científico publicado en 2015

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

article

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

artículo científico publicado en 2010

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

Focal central white matter lesions in Alexander disease

artículo científico publicado en 2011

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

artículo científico publicado en 2011

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Genetic Leukoencephalopathies in Adults

artículo científico publicado en 2016

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

article

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

artículo científico publicado en 2017

Genome sequencing in persistently unsolved white matter disorders

artículo científico publicado en 2020

Hypomyelinating leukodystrophies: translational research progress and prospects

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Isolated cranial nerve enhancement in metachromatic leukodystrophy

artículo científico publicado en 2009

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

artículo científico publicado en 2010

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

artículo científico publicado en 2015

Neurotransmitter abnormalities and response to supplementation in SPG11.

artículo científico publicado en 2012

New-onset afebrile seizures in infants: role of neuroimaging

artículo científico publicado en 2010

Novel (ovario) leukodystrophy related to AARS2 mutations

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico

SCN8A encephalopathy: Research progress and prospects

artículo científico publicado en 2016

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

artículo científico publicado en 2008

TUBB4A de novo mutations cause isolated hypomyelination

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Therapies in Aicardi-Goutières syndrome.

artículo científico

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

artículo científico publicado en 2016

Update on leukodystrophies

Whole exome sequencing in patients with white matter abnormalities.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Lista de obras de 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