Susen Schaake

发表

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

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

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia

E. Altenmüller, K. Lohmann, J. Groen, 2015, 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.

Genotype‐phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review

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

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.

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.

Genotype–Phenotype Relations for the Atypical Parkinsonism Genes:MDSGene Systematic Review

I. König, H. Huppertz, M. Stamelou, 2021, 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.

Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept

K. Wasner, C. Klein, J. Trinh, 2021, Frontiers in Aging Neuroscience.

Analysis of mitochondrial genome methylation using Nanopore single-molecule sequencing

C. Klein, J. Trinh, Lasse Sinkkonen, 2021, bioRxiv.

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

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

GBA in Parkinson's disease: variant detection and pathogenicity scoring matters

M. Farrer, J. Trinh, J. Aasly, 2023, medRxiv.

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression

K. Lohmann, F. Kaiser, Susen Schaake, 2017, Human molecular genetics.

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

D. Arkadir, M. Farrer, E. Tolosa, 2023, Movement disorders : official journal of the Movement Disorder Society.

LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort

J. Volkmann, D. Gruber, P. Bauer, 2021, Frontiers in Neurology.

Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias

E. Altenmüller, P. Bauer, K. Lohmann, 2017, Genes.

A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members.

D. Berg, N. Brüggemann, K. Lohmann, 2018, Parkinsonism & related disorders.

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

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

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

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

Caffeine, creatine, GRIN2A and Parkinson's disease progression

C. Tanner, M. Aminoff, J. Schneider, 2017, Journal of the Neurological Sciences.

Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA

P. May, J. Trinh, A. Grünewald, 2022, Frontiers in Genetics.

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease

P. May, M. Farrer, A. Lang, 2022, medRxiv.

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.

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.

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.

Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencing

J. Rupp, J. Trinh, K. Neumann, 2022, Journal of Assisted Reproduction and Genetics.

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia

E. Altenmüller, K. Lohmann, J. Groen, 2015, Journal of Neurology.

The R1441C-LRRK2 mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner

M. Tansey, Susen Schaake, R. Wallings, 2023, bioRxiv.

GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters

J. Aasly, Susen Schaake, Theresa Lüth, 2023, BMC Genomics.

α-Synuclein Pathology in PRKN-Linked Parkinson's Disease: New Insights from a Blood-Based Seed Amplification Assay.

K. Lohmann, A. Rakovic, M. Borsche, 2024, Annals 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.