Bart P van de Warrenburg Selected Research

Tripeptidyl-Peptidase 1

5/2013

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

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Bart P van de Warrenburg Research Topics

Disease

13	Ataxia (Dyssynergia) 11/2023 - 05/2013
7	Parkinson Disease (Parkinson's Disease) 12/2019 - 01/2009
6	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 11/2023 - 10/2012
3	Machado-Joseph Disease (Spinocerebellar Ataxia Type 3) 11/2023 - 04/2023
3	Movement Disorders (Movement Disorder) 01/2023 - 09/2013
3	Cognitive Dysfunction 01/2021 - 10/2015
3	Dystonia (Limb Dystonia) 04/2016 - 10/2010
2	Parkinsonian Disorders (Parkinsonism) 01/2023 - 04/2016
2	Dyskinesias (Dyskinesia) 01/2021 - 01/2009
2	Tremor (Tremors) 01/2018 - 05/2012
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 05/2013 - 12/2011
2	Torticollis (Wryneck) 03/2013 - 05/2012
2	Hereditary Spastic Paraplegia 12/2012 - 04/2008
1	Restless Legs Syndrome (Restless Legs) 02/2023
1	Sleep Initiation and Maintenance Disorders (Insomnia) 12/2019
1	Ataxia Telangiectasia (Louis Bar Syndrome) 01/2019
1	Disease Progression 09/2017
1	Myoclonus (Nocturnal Myoclonus) 08/2017
1	Lipodystrophy 01/2017
1	Chorea (Rheumatic Chorea) 04/2016
1	Spastic Paraparesis 04/2016
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 07/2015
1	Anodontia (Hypodontia) 07/2015
1	Hypogonadism (Hypergonadotropic Hypogonadism) 07/2015
1	Infantile Epileptic-Dyskinetic Encephalopathy 05/2015
1	Intellectual Disability (Idiocy) 05/2015
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2015
1	Neuroacanthocytosis 04/2014
1	Cerebellar Ataxia (Dysmetria) 10/2013
1	Glut1 Deficiency Syndrome 09/2013
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 05/2013
1	Epilepsy (Aura) 05/2013
1	Frontotemporal Dementia (Semantic Dementia) 05/2013
1	Dystonic Disorders (Writer's Cramp) 03/2013

Drug/Important Bio-Agent (IBA)

6	Biomarkers (Surrogate Marker)IBA 11/2023 - 09/2017
3	Proteins (Proteins, Gene)FDA Link 01/2019 - 04/2008
2	Phosphotransferases (Kinase)IBA 01/2019 - 04/2014
2	indium arsenide (InAs)IBA 09/2018 - 11/2015
2	Dopamine (Intropin)FDA LinkGeneric 10/2015 - 03/2013
2	Brain-Derived Neurotrophic Factor (BDNF)IBA 03/2015 - 05/2012
2	angiogeninIBA 12/2014 - 12/2011
1	polyglutamineIBA 10/2023
1	Ataxin-3IBA 10/2023
1	tributyl phosphate (TBP)IBA 01/2023
1	Coenzyme A (CoA)IBA 01/2023
1	DNA Polymerase gammaIBA 11/2021
1	Adrenergic Receptors (Adrenergic Receptor)IBA 12/2019
1	Apolipoproteins E (ApoE)IBA 12/2019
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2018
1	Anti-Bacterial Agents (Antibiotics)IBA 08/2017
1	Amantadine (Aman)FDA LinkGeneric 08/2017
1	Antipsychotic Agents (Antipsychotics)IBA 08/2017
1	Opiate AlkaloidsIBA 08/2017
1	Antidepressive Agents (Antidepressants)IBA 08/2017
1	LipidsIBA 01/2017
1	Biocompatible Materials (Biomaterials)IBA 05/2016
1	IronIBA 04/2016
1	PotassiumIBA 07/2015
1	RNA Polymerase IIIIBA 07/2015
1	Voltage-Gated Sodium ChannelsIBA 05/2015
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2015
1	Amino Acids FDA Link 10/2013
1	acetylleucineIBA 10/2013
1	Glucose (Dextrose)FDA LinkGeneric 09/2013
1	Tripeptidyl-Peptidase 1IBA 05/2013
1	EnzymesIBA 05/2013
1	DNA-Binding Proteins (DNA Binding Protein)IBA 05/2013
1	Phospholipases AIBA 12/2012
1	Phospholipases (Phospholipase)IBA 12/2012
1	Shal Potassium ChannelsIBA 12/2012
1	Peptide Hydrolases (Proteases)FDA Link 10/2012
1	ATPases Associated with Diverse Cellular ActivitiesIBA 10/2012
1	Apoptosis Regulatory ProteinsIBA 10/2010
1	Levodopa (L Dopa)FDA LinkGeneric 01/2009
1	salicylhydroxamic acid (SHAM)IBA 01/2009

Therapy/Procedure

3	Activities of Daily Living (ADL) 02/2023 - 01/2021
2	Transcranial Magnetic Stimulation 03/2013 - 01/2009
1	Ketogenic Diet 09/2013
1	High-Protein Low-Carbohydrate Diet (Atkins Diet) 09/2013
1	Deep Brain Stimulation 10/2010