Ana Westenberger 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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Ana Westenberger Research Topics

Disease

9	X-Linked Torsion Dystonia 3 11/2022 - 09/2014
5	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2022 - 01/2013
4	Dystonia (Limb Dystonia) 01/2022 - 01/2016
3	Movement Disorders (Movement Disorder) 01/2019 - 12/2015
2	Myoclonic dystonia 01/2022 - 01/2017
2	Parkinsonian Disorders (Parkinsonism) 08/2021 - 01/2017
2	Parkinson Disease (Parkinson's Disease) 09/2014 - 11/2013
1	Obsessive-Compulsive Disorder (Disorder, Obsessive-Compulsive) 01/2022
1	Myoclonus (Nocturnal Myoclonus) 01/2022
1	Gaucher Disease (Gaucher's Disease) 01/2021
1	Iron Overload 10/2018
1	Dopa-responsive Dystonia 12/2017
1	Alternating hemiplegia of childhood 01/2017
1	Facial Nerve Diseases (Facial Nerve Disorders) 01/2016
1	Dyskinesias (Dyskinesia) 01/2016
1	Chorea (Rheumatic Chorea) 01/2016
1	Task-Specific Focal Dystonia 06/2014

Drug/Important Bio-Agent (IBA)

7	Retroelements (Retrotransposon)IBA 11/2022 - 01/2018
2	DNA (Deoxyribonucleic Acid)IBA 12/2020 - 09/2014
2	IronIBA 10/2018 - 01/2013
2	Adenylyl Cyclases (Adenylyl Cyclase)IBA 01/2017 - 01/2016
2	Proteins (Proteins, Gene)FDA Link 01/2017 - 12/2015
1	Duloxetine Hydrochloride (Cymbalta)FDA Link 01/2022
1	Nonsense Codon (Nonsense Mutation)IBA 01/2022
1	Clonazepam (Rivotril)FDA LinkGeneric 01/2022
1	EnzymesIBA 01/2021
1	Glucosylceramidase (Glucocerebrosidase)IBA 01/2021
1	hydrogen sulfite (bisulfite)IBA 12/2020
1	NucleotidesIBA 12/2020
1	Platelet-Derived Growth Factor beta Receptor (Receptor, Platelet Derived Growth Factor beta)IBA 01/2019
1	Proto-Oncogene Proteins c-sis (Platelet Derived Growth Factor B)IBA 01/2019
1	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 12/2017
1	Messenger RNA (mRNA)IBA 01/2017
1	Biomarkers (Surrogate Marker)IBA 01/2017
1	Sarcoglycans (beta Sarcoglycan)IBA 01/2017
1	Neurotransmitter Agents (Neurotransmitter)IBA 12/2015
1	ArylsulfatasesIBA 06/2014
1	glucose-regulated proteinsIBA 11/2013
1	mortalinIBA 11/2013

Therapy/Procedure

3	Therapeutics 01/2022 - 12/2020
1	Activities of Daily Living (ADL) 01/2022