Adeline Vanderver Selected Research

Leukoencephalopathies

8/2017	Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo.
1/2017	ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.
10/2016	Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
3/2016	Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
3/2016	LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
4/2015	Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
4/2015	Disease specific therapies in leukodystrophies and leukoencephalopathies.
1/2015	DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.
5/2013	A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
5/2013	Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

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Adeline Vanderver Research Topics

Disease

15	Leukoencephalopathies 08/2017 - 11/2005
4	Alexander Disease (Alexander's Disease) 01/2020 - 11/2011
3	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020 - 11/2011
3	Dystonia (Limb Dystonia) 01/2020 - 01/2018
2	Bites and Stings (Sting) 01/2022 - 01/2022
2	chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature 01/2022 - 01/2022
2	Neurologic Manifestations (Neurological Manifestations) 12/2020 - 11/2016
2	Autoimmune Diseases of the Nervous System 01/2020 - 01/2017
2	Demyelinating Diseases (Demyelinating Disease) 01/2020 - 08/2013
2	Encephalitis (Encephalitis, Rasmussen) 01/2020 - 01/2017
2	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 01/2020 - 01/2018
2	Mucopolysaccharidoses 01/2018 - 12/2015
2	Atrophy 11/2017 - 05/2013
2	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 11/2017 - 11/2017
2	Mitochondrial Diseases (Mitochondrial Disease) 11/2016 - 03/2016
2	Brain Diseases (Brain Disorder) 01/2016 - 04/2015
2	Nervous System Diseases (Neurological Disorders) 01/2015 - 05/2013
2	Ataxia (Dyssynergia) 01/2008 - 11/2005
1	Chronic Pericardial Effusion 11/2022
1	Leukopenia 01/2022
1	Thrombocytosis (Thrombocythemia) 01/2022
1	Anemia 01/2022
1	Inflammation (Inflammations) 01/2022
1	Neutropenia 01/2022
1	Thrombocytopenia (Thrombopenia) 01/2022
1	Carcinogenesis 12/2020
1	Neoplasms (Cancer) 12/2020
1	Acute Disseminated Encephalomyelitis (Postinfectious Encephalomyelitis) 01/2020
1	Parkinsonian Disorders (Parkinsonism) 01/2020
1	Dementia (Dementias) 01/2020
1	Epilepsy (Aura) 01/2020
1	Type 4j Charcot-Marie-Tooth Disease 01/2019
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2019
1	X-Linked Ichthyosis (Ichthyosis, X Linked) 01/2018
1	Sialorrhea 01/2018
1	Chondrodysplasia Punctata (Stippled Epiphyses) 01/2018
1	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 11/2017
1	Astrocytoma (Pilocytic Astrocytoma) 01/2017
1	Retinal Dystrophies 01/2017
1	Cysts 10/2016
1	Cerebral Small Vessel Diseases 10/2016
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2016
1	Cognitive Dysfunction 12/2015
1	Mucopolysaccharidosis II (Hunter Syndrome) 12/2015
1	Autoimmune Diseases (Autoimmune Disease) 10/2015
1	Hypogonadism (Hypergonadotropic Hypogonadism) 07/2015
1	Anodontia (Hypodontia) 07/2015
1	Paraplegia (Spastic Paraplegia) 01/2015
1	Neuroinflammatory Diseases 01/2015
1	Multiple Sclerosis 01/2015
1	Leigh Disease (Leigh's Disease) 01/2014
1	Disease Progression 01/2014

Drug/Important Bio-Agent (IBA)

4	Glial Fibrillary Acidic ProteinIBA 01/2020 - 11/2011
4	Proteins (Proteins, Gene)FDA Link 11/2016 - 09/2011
3	InterferonsIBA 01/2022 - 01/2022
3	Lactic Acid (Lactate)FDA LinkGeneric 08/2017 - 06/2012
2	baricitinibIBA 11/2022 - 01/2022
2	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022 - 01/2022
2	Protein Isoforms (Isoforms)IBA 01/2020 - 11/2017
2	RNA Polymerase IIIIBA 02/2019 - 07/2015
2	LipidsIBA 01/2019 - 11/2017
2	EnzymesIBA 01/2018 - 01/2017
2	TubulinIBA 11/2017 - 05/2013
2	Transfer RNA (tRNA)IBA 04/2015 - 05/2013
2	Ligases (Synthetase)IBA 04/2015 - 05/2013
2	Aspartate-tRNA LigaseIBA 01/2015 - 05/2013
2	Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA 02/2008 - 01/2008
1	Histones (Histone)IBA 12/2020
1	IronIBA 01/2020
1	AntibodiesIBA 01/2020
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 01/2020
1	Messenger RNA (mRNA)IBA 01/2020
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2019
1	SulfatasesIBA 01/2018
1	Fatty Acids (Saturated Fatty Acids)IBA 11/2017
1	DNA (Deoxyribonucleic Acid)IBA 11/2017
1	Lysophosphatidylcholines (Lysophosphatidylcholine)IBA 11/2017
1	We 201IBA 11/2017
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2017
1	N-Methylaspartate (NMDA)IBA 01/2017
1	Small Nucleolar RNA (snoRNA)IBA 10/2016
1	Succinate Dehydrogenase (Fumarate Reductase)IBA 03/2016
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 03/2016
1	Pharmaceutical PreparationsIBA 01/2016
1	Sodium Channels (Sodium Channel)IBA 01/2016
1	GlycosaminoglycansIBA 12/2015
1	AutoantibodiesIBA 10/2015
1	Alanine-tRNA LigaseIBA 04/2015
1	SteroidsIBA 01/2015
1	Thiamin Pyrophosphokinase (Thiamine Pyrophosphokinase)IBA 01/2014
1	Lamin Type B (Lamin B)IBA 08/2013

Therapy/Procedure

2	Therapeutics 02/2019 - 04/2015
1	Hematopoietic Stem Cell Transplantation 01/2020
1	Transplantation 01/2020
1	Cell Transplantation 01/2020
1	Gastrostomy 01/2018
1	Immunotherapy 01/2017
1	Renal Replacement Therapy (Therapies, Renal Replacement) 11/2016
1	Diet Therapy (Therapy, Diet) 01/2014