Norbert Brüggemann Selected Research

Retroelements (Retrotransposon)

11/2022	Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
4/2022	Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
2/2022	Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon.
8/2021	Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.
1/2021	Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
1/2019	A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
1/2018	Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.

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Norbert Brüggemann Research Topics

Disease

18	Parkinson Disease (Parkinson's Disease) 01/2022 - 04/2012
12	Dystonia (Limb Dystonia) 01/2022 - 01/2009
10	Parkinsonian Disorders (Parkinsonism) 01/2022 - 07/2010
9	X-Linked Torsion Dystonia 3 11/2022 - 09/2014
7	Movement Disorders (Movement Disorder) 08/2021 - 04/2011
5	Mitochondrial Diseases (Mitochondrial Disease) 06/2022 - 01/2019
4	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2022 - 09/2010
3	Sleep Apnea Syndromes (Sleep Apnea) 05/2022 - 01/2010
3	Dopa-responsive Dystonia 01/2022 - 10/2015
3	Cognitive Dysfunction 01/2021 - 11/2010
2	Brain Diseases (Brain Disorder) 06/2022 - 01/2018
2	Dyskinesias (Dyskinesia) 01/2021 - 05/2010
2	Ataxia (Dyssynergia) 12/2020 - 11/2020
2	Neurodegeneration with brain iron accumulation (NBIA) 11/2020 - 11/2010
2	Atrophy 10/2019 - 11/2010
2	Dystonia musculorum deformans type 1 02/2012 - 10/2010
1	Obstructive Sleep Apnea 05/2022
1	Disease Progression 03/2022
1	Dystonia 12 01/2022
1	Body Weight (Weight, Body) 01/2022
1	Cerebral Amyloid Angiopathy (Congophilic Angiopathy) 01/2022
1	Alzheimer Disease (Alzheimer's Disease) 01/2022
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 01/2021
1	Myoclonus (Nocturnal Myoclonus) 01/2021
1	Bilateral Vestibulopathy 11/2020
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 11/2020
1	Deglutition Disorders (Dysphagia) 11/2020
1	Deafness (Deaf Mutism) 11/2020
1	Inflammation (Inflammations) 10/2020
1	Bites and Stings (Sting) 10/2020
1	Sialorrhea 02/2020
1	Overweight 01/2020
1	Weight Loss (Weight Reduction) 01/2020
1	Tremor (Tremors) 10/2019
1	Pain (Aches) 01/2019
1	Myoclonic dystonia 10/2017
1	Bipolar Disorder (Manic Depressive Psychosis) 06/2017
1	Mania (Manias) 06/2017
1	Mood Disorders (Mood Disorder) 06/2017
1	Anxiety Disorders (Anxiety Disorder) 06/2017
1	Sleep Wake Disorders 05/2017
1	Parasomnias (Parasomnia) 05/2017
1	Alternating hemiplegia of childhood 01/2017
1	Paralysis (Palsy) 01/2016
1	Task-Specific Focal Dystonia 06/2014
1	Contracture 12/2012
1	B BH4-Deficient Hyperphenylalaninemia 08/2012

Drug/Important Bio-Agent (IBA)

7	Retroelements (Retrotransposon)IBA 11/2022 - 01/2018
5	IronIBA 01/2022 - 09/2010
4	Biomarkers (Surrogate Marker)IBA 06/2022 - 01/2017
3	Dopamine (Intropin)FDA LinkGeneric 01/2022 - 10/2019
3	Levodopa (L Dopa)FDA LinkGeneric 01/2022 - 11/2010
3	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 04/2012
3	Proteins (Proteins, Gene)FDA Link 01/2019 - 05/2009
2	Glucosylceramidase (Glucocerebrosidase)IBA 01/2022 - 07/2010
2	Botulinum Toxins (Botulinum Toxin)IBA 02/2020 - 01/2009
2	AntibodiesIBA 05/2017 - 01/2016
1	Biological ProductsIBA 06/2022
1	amyloid beta-protein (1-40)IBA 01/2022
1	amyloid beta-protein (1-42)IBA 01/2022
1	sapropterin (tetrahydrobiopterin)FDA Link 01/2022
1	SodiumIBA 01/2022
1	Zonisamide (Zonegran)FDA LinkGeneric 01/2021
1	Phosphotransferases (Kinase)IBA 01/2021
1	neuromelaninIBA 01/2021
1	Leucine (L-Leucine)FDA Link 01/2021
1	RecoverinIBA 12/2020
1	Replication Protein C (Replication Factor C)IBA 11/2020
1	C-Reactive ProteinIBA 10/2020
1	Interleukin-6 (Interleukin 6)IBA 10/2020
1	InterferonsIBA 10/2020
1	cyclic guanosine monophosphate-adenosine monophosphateIBA 10/2020
1	Mitochondrial DNA (mtDNA)IBA 10/2020
1	Vitamin K 2 (Vitamin K2)IBA 01/2020
1	menaquinone 7IBA 01/2020
1	alpha-SynucleinIBA 01/2019
1	lysosomal proteinsIBA 01/2019
1	coenzyme Q10 (CoQ10)IBA 01/2019
1	CytokinesIBA 01/2018
1	Sarcoglycans (beta Sarcoglycan)IBA 10/2017
1	ORALIT (ORS)IBA 06/2017
1	Immunoglobulin G (IgG)IBA 05/2017
1	HLA Antigens (Human Leukocyte Antigens)IBA 05/2017
1	Adenylyl Cyclases (Adenylyl Cyclase)IBA 01/2017
1	Nonsense Codon (Nonsense Mutation)IBA 02/2016
1	ArylsulfatasesIBA 06/2014
1	glucose-regulated proteinsIBA 11/2013
1	mortalinIBA 11/2013
1	TubulinIBA 04/2013
1	Guanosine Triphosphate (GTP)IBA 08/2012
1	SynucleinsIBA 04/2012
1	Transcription Factors (Transcription Factor)IBA 02/2012

Therapy/Procedure

11	Therapeutics 01/2022 - 01/2010
8	Deep Brain Stimulation 01/2022 - 03/2015
2	Immunotherapy 03/2022 - 08/2021
1	Electrodes (Electrode) 05/2022
1	Precision Medicine 01/2020
1	Activities of Daily Living (ADL) 01/2019
1	Transcranial Magnetic Stimulation 10/2015
1	Operative Surgical Procedures 12/2012