A. Westenberger

发表

Christine Klein, C. Klein, A. Westenberger, 2012, Cold Spring Harbor perspectives in medicine.

Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing

I. König, N. Brüggemann, C. Klein, 2021, Neurology: Genetics.

Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism.

N. Brüggemann, D. Dressler, C. Klein, 2017, Parkinsonism & related disorders.

The evolving spectrum of PRRT2-associated paroxysmal diseases.

C. Klein, A. Westenberger, D. Ebrahimi-Fakhari, 2015, Brain : a journal of neurology.

Novel GNAL mutations in two German patients with sporadic dystonia

R. Benecke, A. Wolters, M. Wittstock, 2014, Movement disorders : official journal of the Movement Disorder Society.

Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.

V. Kostic, V. Dobričić, A. Westenberger, 2015, Parkinsonism & related disorders.

Multiple Causes of Pediatric Early Onset Chorea—Clinical and Genetic Approach

D. Lev, H. Ben-Pazi, T. Lerman-Sagie, 2018, Neuropediatrics.

Prodromal X‐Linked Dystonia‐Parkinsonism is Characterized by a Subclinical Motor Phenotype

T. Münte, A. Sprenger, N. Brüggemann, 2022, Movement disorders : official journal of the Movement Disorder Society.

Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.

N. Brüggemann, A. Münchau, M. K. Baaske, 2017, Parkinsonism & related disorders.

LRRK2 Loss‐of‐Function Variants: When Less Is More

A. Westenberger, T. Usnich, 2020, Movement disorders : official journal of the Movement Disorder Society.

First Case of Parkinsonian‐Pyramidal Syndrome Associated with a TBK1 Mutation

M. Kurtis, C. Klein, J. Gámez, 2020, Movement disorders : official journal of the Movement Disorder Society.

Identification of representative trees in random forests based on a new tree-based distance measure

I. König, A. Westenberger, Björn-Hergen Laabs von Holt, 2022, bioRxiv.

GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.

V. Kostic, C. Klein, V. Dobričić, 2017, Parkinsonism & related disorders.

The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

P. Bauer, N. Brüggemann, N. Ameziane, 2020, Movement disorders : official journal of the Movement Disorder Society.

X-linked dystonia-parkinsonism: over and above a repeat disorder

A. Westenberger, J. Pozojevic, Joseph Neos Cruz, 2021, Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V.

Transgenerational transduction of MPTP-induced alterations in a Parkinson's disease mouse model.

C. Klein, A. Westenberger, D. Alvarez‐Fischer, 2020, Parkinsonism & related disorders.

Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia.

A. Lang, C. Klein, A. Westenberger, 2020, Brain : a journal of neurology.

Genotype‐Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review

I. König, K. Lohmann, L. Bertram, 2018, Movement disorders : official journal of the Movement Disorder Society.

Identification of representative trees in random forests based on a new tree-based distance measure

I. König, A. Westenberger, Björn-Hergen Laabs von Holt, 2022, bioRxiv.

A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report

C. Klein, R. Rosales, A. Westenberger, 2022, BMC Neurology.

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing

N. Brüggemann, C. Klein, R. Rosales, 2022, Genes.

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

Ron Shamir, Christine Klein, Uwe Walter, 2016, Cellular and Molecular Life Sciences.

Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism

A. Westenberger, J. Pozojevic, Björn-Hergen Laabs von Holt, 2022, Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V.

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X‐linked dystonia‐parkinsonism

I. König, N. Brüggemann, A. Rolfs, 2018, Movement disorders : official journal of the Movement Disorder Society.

An integrated OMICS approach unravels the elusive genetic cause of X‐linked dystonia‐parkinsonism

A. Westenberger, C. J. Reyes, 2018, Movement disorders : official journal of the Movement Disorder Society.

Mosaic deletions in X-linked dystonia-parkinsonism influence repeat stability and disease onset

C. Depienne, C. Klein, R. Rosales, 2022, medRxiv.

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study

S. Szymczak, K. Lohmann, C. Depienne, 2022, Movement disorders : official journal of the Movement Disorder Society.

Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration

K. Lohmann, S. Zittel, A. Rakovic, 2022, International journal of molecular sciences.

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

S. Rossi, L. Defebvre, M. Vidailhet, 2014, Neurology.

Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities

A. Mégarbané, A. Bertoli-Avella, Ruslan Al-Ali, 2021, Clinical genetics.

Mortalin mutations are not a frequent cause of early-onset Parkinson disease

N. Brüggemann, K. Lohmann, C. Klein, 2013, Neurobiology of Aging.

Genetic characterization of the Albanian Gaucher disease patient population

P. Bauer, A. Rolfs, C. Beetz, 2020, JIMD reports.

Mutations in GNAL: a novel cause of craniocervical dystonia.

A. Ferbert, N. Brüggemann, K. Lohmann, 2014, JAMA neurology.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

D. Geschwind, P. Svenningsson, A. Aguzzi, 2013, Nature Genetics.

Primary familial brain calcifications: genetic and clinical update.

C. Klein, A. Balck, A. Westenberger, 2019, Current opinion in neurology.

Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.

C. Klein, M. Kasten, A. Westenberger, 2015, JAMA neurology.

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells

D. Krainc, A. Münchau, C. Klein, 2018, Brain : a journal of neurology.

A novel homozygous variant in the TRAPPC9 gene causing intellectual disability and autism Spectrum disorder

P. Bauer, A. Rolfs, C. Beetz, 2020 .

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5‐Mutation‐Associated Disease: A Report of Two Cases

V. Fung, A. Lang, A. Kühn, 2017, The Journal of pediatrics.

Phenotypic insights into ADCY5‐associated disease

D. Grozeva, V. Fung, N. Mahant, 2016, Movement disorders : official journal of the Movement Disorder Society.

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient

K. Lohmann, V. Kostic, C. Klein, 2014, Movement disorders : official journal of the Movement Disorder Society.

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

I. König, K. Lohmann, C. Klein, 2021, Movement disorders : official journal of the Movement Disorder Society.

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

Trisha J. Multhaupt-Buell, I. König, P. Bauer, 2021, Nature Communications.

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

K. Lohmann, D. Trujillano, G. Oprea, 2017, Human molecular genetics.

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

J. Jankovic, J. Hardy, S. Schneider, 2013, Current neuropharmacology.

RAB39B mutations are a rare finding in Parkinson disease patients.

A. Kühn, P. Krause, N. Brüggemann, 2016, Parkinsonism & related disorders.

The importance of genetic testing for dystonia patients and translational research

C. Beetz, A. Westenberger, J. Pozojevic, 2021, Journal of Neural Transmission.

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

I. König, P. Bauer, N. Brüggemann, 2019, Annals of neurology.

First Report of a Filipino with Mohr‐Tranebjaerg Syndrome

C. Klein, R. Rosales, A. Westenberger, 2015, Movement disorders clinical practice.

New insights into the genetics of X-linked dystonia-parkinsonism ( XDP , DYT 3 )

J. Erdmann, K. Lohmann, Tian Liu, 2015 .

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

A. Rolfs, C. Beetz, L. Abbasi-Moheb, 2019, Journal of Human Genetics.

Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy

P. Bauer, A. Bertoli-Avella, A. Rolfs, 2020, Clinical genetics.

Essential phenotypes of NOTCH2NLC-related repeat expansion disorder.

C. Klein, A. Westenberger, 2019, Brain : a journal of neurology.

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

I. König, N. Brüggemann, C. Depienne, 2022, Brain : a journal of neurology.

Spectrum of Pediatric to Early Adulthood POLR3A‐Associated Movement Disorders

N. Brüggemann, D. Gilbert, A. Espay, 2022, Movement disorders clinical practice.

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

J. Erdmann, K. Lohmann, Tian Liu, 2015, European Journal of Human Genetics.

X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome

R. Siebert, K. Lohmann, D. Dressler, 2013, Movement disorders : official journal of the Movement Disorder Society.

Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?

N. Brüggemann, C. Klein, R. Rosales, 2014, JAMA neurology.

Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review

K. Lohmann, C. Klein, M. Kasten, 2021, Movement disorders : official journal of the Movement Disorder Society.

Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions

A. Bertoli-Avella, A. Rolfs, C. Beetz, 2023, Movement disorders : official journal of the Movement Disorder Society.

Reply letter to “ADCY5‐related dyskinesia: Comments on characteristic manifestations and variant‐associated severity”

V. Fung, C. Klein, A. Westenberger, 2017, Movement disorders : official journal of the Movement Disorder Society.

Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon

M. Spielmann, N. Brüggemann, M. Glatzel, 2022, International journal of molecular sciences.

Neurocognitive profile of patients with X-linked dystonia-parkinsonism

C. Klein, A. Westenberger, R. Jamora, 2021, Journal of Neural Transmission.

Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example

N. Brüggemann, C. Klein, R. Rosales, 2020, Movement disorders : official journal of the Movement Disorder Society.

DNA Methylation as a Potential Molecular Mechanism in X‐linked Dystonia‐Parkinsonism

I. König, C. Klein, R. Rosales, 2020, Movement disorders : official journal of the Movement Disorder Society.

The Genetics of Primary Familial Brain Calcifications

C. Klein, A. Westenberger, 2014, Current Neurology and Neuroscience Reports.

Genome‐wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?

G. Deuschl, A. Ziegler, E. Altenmüller, 2014, Movement disorders : official journal of the Movement Disorder Society.

Biallelic MYORG mutations: Primary familial brain calcification goes recessive

A. Westenberger, D. Alvarez-Fischer, 2019, Movement disorders : official journal of the Movement Disorder Society.

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia

K. Lohmann, C. Klein, D. Blake, 2017, Scientific Reports.

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

K. Lohmann, L. Kalaydjieva, V. Kostic, 2016, Movement disorders : official journal of the Movement Disorder Society.

Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP)

A. Sprenger, M. Heldmann, R. Rosales, 2023, Journal of Neurology.

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

R. Shamir, D. Krainc, N. Brüggemann, 2016, Cellular and Molecular Life Sciences.

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.

K. Lohmann, A. Münchau, J. Trinh, 2023, Cerebellum.

Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead to SLC20A2

A. Ferbert, Z. Wszolek, P. Pramstaller, 2016, Movement disorders : official journal of the Movement Disorder Society.

A Network Imaging Biomarker of X‐Linked Dystonia‐Parkinsonism

Chris C. Tang, D. Eidelberg, Yilong Ma, 2023, Annals of neurology.

Low Frequency of p.S510G in PIAS1 Challenges its Relevance for Modifying Repeat Expansion Disorders

N. Brüggemann, R. Rosales, A. Westenberger, 2022, Movement disorders : official journal of the Movement Disorder Society.

Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family

K. Lohmann, J. Trinh, M. Kauffman, 2023, Movement Disorders.

Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification.

J. Erdmann, C. Klein, A. Rakovic, 2019, Brain : a journal of neurology.

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

P. Bauer, A. Rolfs, C. Beetz, 2019, Journal of Human Genetics.

Genotype–phenotype relations for episodic ataxia genes: MDSGene systematic review

K. Lohmann, J. Trinh, C. Marras, 2023, European journal of neurology.

LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

K. Kandaswamy, P. Bauer, N. Ameziane, 2021, Movement disorders : official journal of the Movement Disorder Society.

Genomics and Bioinformatics of Parkinson's Disease Disease Motor Control Abnormalities in Parkinson's the Role of Autophagy in Parkinson's Disease Functional Neuroimaging in Parkinson's Disease Eidelberg Disruption of Protein Quality Control in Leucine-rich Repeat Kinase 2 for Beginners: Six Modelin

Sonja W. Scholz, Qin Li, E. Bézard, 2022 .

NEMO reshapes the α-Synuclein aggregate interface and acts as an autophagy adapter by co-condensation with p62

C. Christine, V. Bader, K. Winklhofer, 2023, Nature communications.

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

K. Lohmann, L. Kalaydjieva, V. Kostic, 2016, Movement disorders : official journal of the Movement Disorder Society.

Basal Ganglia Atrophy as a Marker for Prodromal X‐Linked Dystonia‐Parkinsonism

T. Münte, A. Sprenger, N. Brüggemann, 2023, Annals of neurology.

Neurophysiological fingerprints of X‐linked dystonia‐parkinsonism: A model basal ganglia disease

N. Brüggemann, A. Münchau, C. Klein, 2015, Movement disorders : official journal of the Movement Disorder Society.