Marjo S van der Knaap Selected Research

Aspartate-tRNA Ligase

1/2015	DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.
5/2013	Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
3/2013	Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
2/2011	A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.

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Marjo S van der Knaap Research Topics

Disease

37	Leukoencephalopathies 01/2022 - 02/2002
8	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 01/2022 - 06/2013
7	Brain Diseases (Brain Disorder) 01/2022 - 11/2003
6	Demyelinating Diseases (Demyelinating Disease) 01/2021 - 03/2002
6	Alexander Disease (Alexander's Disease) 01/2018 - 03/2005
5	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 10/2011
5	Disease Progression 01/2018 - 07/2008
4	2-Hydroxyglutaricaciduria 01/2019 - 10/2010
4	Atrophy 11/2017 - 04/2004
3	Cysts 01/2017 - 11/2011
3	Stroke (Strokes) 01/2017 - 03/2006
3	Nervous System Diseases (Neurological Disorders) 01/2015 - 03/2005
3	5 Hypomyelinating Leukodystrophy 09/2011 - 10/2006
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022 - 07/2008
2	Seizures (Absence Seizure) 01/2018 - 08/2007
2	Gliosis 01/2018 - 10/2002
2	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 11/2017 - 04/2004
2	Cerebral Small Vessel Diseases 10/2016 - 10/2016
2	Multiple Sclerosis 01/2015 - 10/2007
2	Infections 01/2009 - 02/2004
1	Esotropia (Esophoria) 03/2022
1	Genomic Instability 01/2022
1	Acute Intermittent Porphyria (Porphyria, Acute) 10/2021
1	Herpes Zoster 01/2021
1	Peroxisomal Disorders (Peroxisomal Disorder) 01/2021
1	Spinal Cord Diseases 01/2021
1	Hypothyroidism 01/2020
1	Thyrotoxicosis 01/2020
1	Ribose 5-Phosphate Isomerase Deficiency 08/2019
1	Cataract (Cataracts) 01/2019
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2019
1	Pathologic Processes 03/2018
1	Epilepsy (Aura) 01/2018
1	Optic Atrophy 01/2018
1	Cicatrix (Scar) 01/2018
1	Megalencephalic leukoencephalopathy with subcortical cysts 01/2018
1	Cardiomyopathies (Cardiomyopathy) 01/2018
1	Astrocytoma (Pilocytic Astrocytoma) 01/2017
1	Hemorrhagic Stroke 10/2016
1	Hypertension (High Blood Pressure) 10/2016

Drug/Important Bio-Agent (IBA)

12	Lactic Acid (Lactate)FDA LinkGeneric 12/2019 - 02/2003
10	EnzymesIBA 01/2022 - 02/2004
9	Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA 01/2018 - 02/2002
9	Proteins (Proteins, Gene)FDA Link 01/2018 - 02/2002
7	Peptide Initiation Factors (Initiation Factor)IBA 01/2013 - 02/2002
6	Glial Fibrillary Acidic ProteinIBA 01/2022 - 03/2005
5	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 02/2004
4	Aspartate-tRNA LigaseIBA 01/2015 - 02/2011
3	Sulfoglycosphingolipids (Sulfatides)IBA 10/2020 - 07/2016
3	Cerebroside-Sulfatase (Arylsulfatase A)IBA 10/2020 - 09/2015
3	alpha-hydroxyglutarateIBA 01/2019 - 04/2013
3	Membrane Proteins (Integral Membrane Proteins)IBA 09/2011 - 10/2006
2	RNA (Ribonucleic Acid)IBA 01/2021 - 02/2002
2	IsomerasesIBA 08/2019 - 12/2017
2	Protons (Proton)IBA 01/2018 - 06/2013
2	TubulinIBA 11/2017 - 05/2013
2	Cathepsin AIBA 01/2017 - 10/2016
2	creatine transporterIBA 01/2012 - 07/2008
2	Choline (Choline Chloride)IBA 11/2006 - 10/2002
2	Inositol (Myoinositol)IBA 11/2006 - 10/2002
2	Myelin ProteinsIBA 04/2004 - 03/2002
1	GadoliniumIBA 03/2022
1	Inosine Triphosphate (ITP)IBA 01/2022
1	PyrophosphatasesIBA 01/2022
1	Macrophage Colony-Stimulating FactorIBA 01/2022
1	thymidine 5'-triphosphate (thymidine triphosphate)IBA 01/2022
1	purineIBA 01/2022
1	Inosine TriphosphataseIBA 01/2022
1	Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA 10/2021
1	Dystroglycans (Dystroglycan)IBA 01/2021
1	Pharmaceutical PreparationsIBA 01/2021
1	Claudin-5IBA 01/2021
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2021
1	Laminin (Merosin)IBA 01/2021
1	Thyroid HormonesIBA 01/2020
1	ribose-5-phosphateIBA 08/2019
1	arabitol (D-arabinitol)IBA 08/2019
1	RibitolIBA 08/2019
1	Baclofen FDA LinkGeneric 01/2019
1	Oxidoreductases (Dehydrogenase)IBA 01/2019
1	GlutaminaseIBA 01/2019
1	Glutamine (L-Glutamine)FDA Link 01/2019
1	Glutamate-Ammonia Ligase (Glutamine Synthetase)IBA 01/2019
1	Glutamic Acid (Glutamate)FDA Link 01/2019
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2019
1	Alanine-tRNA LigaseIBA 01/2018
1	Retinaldehyde (Retinal)IBA 01/2018
1	PotassiumIBA 01/2018
1	Ribose (D-Ribose)IBA 12/2017
1	Phosphates (Orthophosphate)IBA 12/2017
1	Protein Isoforms (Isoforms)IBA 11/2017
1	Lysophosphatidylcholines (Lysophosphatidylcholine)IBA 11/2017
1	We 201IBA 11/2017
1	Endothelin-1 (Endothelin 1)IBA 10/2016
1	Small Nucleolar RNA (snoRNA)IBA 10/2016

Therapy/Procedure

4	Cell Transplantation 01/2021 - 01/2016
4	Therapeutics 01/2019 - 10/2014
1	Hematopoietic Stem Cell Transplantation 01/2020
1	Transplantation 01/2020
1	Electrodes (Electrode) 01/2018