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The R1441C-Lrrk2 mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner in mice.
Published in:
Science Translational Medicine, 2024, v. 16, n. 772, p. 1, doi. 10.1126/scitranslmed.adl1535
By:
- Wallings, Rebecca L.;
- McFarland, Karen;
- Staley, Hannah A.;
- Neighbarger, Noelle;
- Schaake, Susen;
- Brüggemann, Norbert;
- Zittel, Simone;
- Usnich, Tatiana;
- Klein, Christine;
- Sammler, Esther M.;
- Tansey, Malú Gámez
Publication type:
Article
Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept.
Published in:
Frontiers in Aging Neuroscience, 2021, v. 13, p. 1, doi. 10.3389/fnagi.2021.713084
By:
- Lüth, Theresa;
- Wasner, Kobi;
- Klein, Christine;
- Schaake, Susen;
- Tse, Ronnie;
- Pereira, Sandro L.;
- Laß, Joshua;
- Sinkkonen, Lasse;
- Grünewald, Anne;
- Trinh, Joanne
Publication type:
Article
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2753, doi. 10.1093/brain/awac464
By:
- Trinh, Joanne;
- Hicks, Andrew A;
- König, Inke R;
- Delcambre, Sylvie;
- Lüth, Theresa;
- Schaake, Susen;
- Wasner, Kobi;
- Ghelfi, Jenny;
- Borsche, Max;
- Vilariño-Güell, Carles;
- Hentati, Faycel;
- Germer, Elisabeth L;
- Bauer, Peter;
- Takanashi, Masashi;
- Kostić, Vladimir;
- Lang, Anthony E;
- Brüggemann, Norbert;
- Pramstaller, Peter P;
- Pichler, Irene;
- Rajput, Alex
Publication type:
Article
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1075, doi. 10.1093/brain/awac160
By:
- Trinh, Joanne;
- Lüth, Theresa;
- Schaake, Susen;
- Laabs, Björn-Hergen;
- Schlüter, Kathleen;
- Laβ, Joshua;
- Pozojevic, Jelena;
- Tse, Ronnie;
- König, Inke;
- Jamora, Roland Dominic;
- Rosales, Raymond L;
- Brüggemann, Norbert;
- Saranza, Gerard;
- Diesta, Cid Czarina E;
- Kaiser, Frank J;
- Depienne, Christel;
- Pearson, Christopher E;
- Westenberger, Ana;
- Klein, Christine
Publication type:
Article
Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification.
Published in:
Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. e1, doi. 10.1093/brain/awz351
By:
- Schiemenz, Christian;
- Westenberger, Ana;
- Tanzer, Kerstin;
- Grütz, Karen;
- Borsche, Max;
- Mahlke, Georg;
- Schaake, Susen;
- Rakovic, Aleksandar;
- Aherrahrou, Zouhair;
- Erdmann, Jeanette;
- Klein, Christine;
- Alvarez-Fischer, Daniel
Publication type:
Article
Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification.
Published in:
2019
By:
- Schiemenz, Christian;
- Westenberger, Ana;
- Tanzer, Kerstin;
- Grütz, Karen;
- Borsche, Max;
- Mahlke, Georg;
- Schaake, Susen;
- Rakovic, Aleksandar;
- Aherrahrou, Zouhair;
- Erdmann, Jeanette;
- Klein, Christine;
- Alvarez-Fischer, Daniel
Publication type:
Letter
Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2231, doi. 10.3390/ijms23042231
By:
- Pozojevic, Jelena;
- Algodon, Shela Marie;
- Cruz, Joseph Neos;
- Trinh, Joanne;
- Brüggemann, Norbert;
- Laß, Joshua;
- Grütz, Karen;
- Schaake, Susen;
- Tse, Ronnie;
- Yumiceba, Veronica;
- Kruse, Nathalie;
- Schulz, Kristin;
- Sreenivasan, Varun K. A.;
- Rosales, Raymond L.;
- Jamora, Roland Dominic G.;
- Diesta, Cid Czarina E.;
- Matschke, Jakob;
- Glatzel, Markus;
- Seibler, Philip;
- Händler, Kristian
Publication type:
Article
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
Published in:
Cerebellum, 2024, v. 23, n. 2, p. 479, doi. 10.1007/s12311-023-01557-x
By:
- Borsche, Max;
- Dulovic-Mahlow, Marija;
- Baumann, Hauke;
- Tunc, Sinem;
- Lüth, Theresa;
- Schaake, Susen;
- Özcakir, Selin;
- Westenberger, Ana;
- Münchau, Alexander;
- Knappe, Evelyn;
- Trinh, Joanne;
- Brüggemann, Norbert;
- Lohmann, Katja
Publication type:
Article
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23491-4
By:
- Laabs, Björn-Hergen;
- Klein, Christine;
- Pozojevic, Jelena;
- Domingo, Aloysius;
- Brüggemann, Norbert;
- Grütz, Karen;
- Rosales, Raymond L.;
- Jamora, Roland Dominic;
- Saranza, Gerard;
- Diesta, Cid Czarina E.;
- Wittig, Michael;
- Schaake, Susen;
- Dulovic-Mahlow, Marija;
- Quismundo, Jana;
- Otto, Pia;
- Acuna, Patrick;
- Go, Criscely;
- Sharma, Nutan;
- Multhaupt-Buell, Trisha;
- Müller, Ulrich
Publication type:
Article
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.
Published in:
Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.710572
By:
- Usnich, Tatiana;
- Vollstedt, Eva-Juliane;
- Schell, Nathalie;
- Skrahina, Volha;
- Bogdanovic, Xenia;
- Gaber, Hanaa;
- Förster, Toni M.;
- Heuer, Andreas;
- Koleva-Alazeh, Natalia;
- Csoti, Ilona;
- Basak, Ayse Nazli;
- Ertan, Sibel;
- Genc, Gencer;
- Bauer, Peter;
- Lohmann, Katja;
- Grünewald, Anne;
- Schymanski, Emma L.;
- Trinh, Joanne;
- Schaake, Susen;
- Berg, Daniela
Publication type:
Article
Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells.
Published in:
BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10902-1
By:
- Trinh, Joanne;
- Schaake, Susen;
- Gabbert, Carolin;
- Lüth, Theresa;
- Cowley, Sally A.;
- Fienemann, André;
- Ullrich, Kristian K.;
- Klein, Christine;
- Seibler, Philip
Publication type:
Article
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
Published in:
BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09417-y
By:
- Gabbert, Carolin;
- Schaake, Susen;
- Lüth, Theresa;
- Much, Christoph;
- Klein, Christine;
- Aasly, Jan O.;
- Farrer, Matthew J.;
- Trinh, Joanne
Publication type:
Article
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
Published in:
2019
By:
- Westenberger, Ana;
- Reyes, Charles Jourdan;
- Schaake, Susen;
- Rakovic, Aleksandar;
- Grütz, Karen;
- Begemann, Kimberly;
- Münchau, Alexander;
- Lohmann, Katja;
- Klein, Christine;
- Dobricic, Valerija;
- Hanssen, Henrike;
- Brüggemann, Norbert;
- Domingo, Aloysius;
- Bauer, Peter;
- Rolfs, Arndt;
- Ozelius, Laurie J.;
- Rosales, Raymond L.;
- Diesta, Cid Czarina E.;
- Saranza, Gerard;
- Jamora, Roland Dominic
Publication type:
journal article
Accumulation of rare variants in the arylsulfatase G ( ARSG) gene in task-specific dystonia.
Published in:
Journal of Neurology, 2015, v. 262, n. 5, p. 1340, doi. 10.1007/s00415-015-7718-3
By:
- Nibbeling, Esther;
- Schaake, Susen;
- Tijssen, Marina;
- Weissbach, Anne;
- Groen, Justus;
- Altenmüller, Eckart;
- Verbeek, Dineke;
- Lohmann, Katja
Publication type:
Article
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 15, p. 2975, doi. 10.1093/hmg/ddx187
By:
- Hollstein, Ronja;
- Reiz, Benedikt;
- Kötter, Lucas;
- Richter, Alev;
- Schaake, Susen;
- Lohmann, Katja;
- Kaiser, Frank J.
Publication type:
Article
α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: New Insights from a Blood‐Based Seed Amplification Assay.
Published in:
Annals of Neurology, 2024, v. 95, n. 6, p. 1173, doi. 10.1002/ana.26917
By:
- Kluge, Annika;
- Borsche, Max;
- Streubel‐Gallasch, Linn;
- Gül, Tuğçe;
- Schaake, Susen;
- Balck, Alexander;
- Prasuhn, Jannik;
- Campbell, Philip;
- Morris, Huw R.;
- Schapira, Anthony H.;
- Lohmann, Katja;
- Brüggemann, Norbert;
- Rakovic, Aleksandar;
- Seibler, Philip;
- Başak, A. Nazlı;
- Berg, Daniela;
- Klein, Christine
Publication type:
Article
Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencing.
Published in:
Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 11, p. 2659, doi. 10.1007/s10815-022-02628-4
By:
- Lüth, Theresa;
- Graspeuntner, Simon;
- Neumann, Kay;
- Kirchhoff, Laura;
- Masuch, Antonia;
- Schaake, Susen;
- Lupatsii, Mariia;
- Tse, Ronnie;
- Griesinger, Georg;
- Trinh, Joanne;
- Rupp, Jan
Publication type:
Article
Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism.
Published in:
Movement Disorders, 2024, v. 39, n. 7, p. 1145, doi. 10.1002/mds.29809
By:
- Laß, Joshua;
- Lüth, Theresa;
- Schlüter, Kathleen;
- Schaake, Susen;
- Laabs, Björn‐Hergen;
- Much, Christoph;
- Jamora, Roland Dominic;
- Rosales, Raymond L.;
- Saranza, Gerard;
- Diesta, Cid Czarina E.;
- Pearson, Christopher E.;
- König, Inke R.;
- Brüggemann, Norbert;
- Klein, Christine;
- Westenberger, Ana;
- Trinh, Joanne
Publication type:
Article
The New p.F1700L LRRK2 Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity.
Published in:
Movement Disorders, 2023, v. 38, n. 6, p. 1105, doi. 10.1002/mds.29385
By:
- Borsche, Max;
- Pratuseviciute, Neringa;
- Schaake, Susen;
- Hinrichs, Frauke;
- Morel, Gabriel;
- Uter, Jan;
- Lohmann, Katja;
- Klein, Christine;
- Alessi, Dario R.;
- Hagenah, Johann;
- Sammler, Esther
Publication type:
Article
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Published in:
Movement Disorders, 2023, v. 38, n. 2, p. 286, doi. 10.1002/mds.29288
By:
- Vollstedt, Eva‐Juliane;
- Schaake, Susen;
- Lohmann, Katja;
- Padmanabhan, Shalini;
- Brice, Alexis;
- Lesage, Suzanne;
- Tesson, Christelle;
- Vidailhet, Marie;
- Wurster, Isabel;
- Hentati, Faycel;
- Mirelman, Anat;
- Giladi, Nir;
- Marder, Karen;
- Waters, Cheryl;
- Fahn, Stanley;
- Kasten, Meike;
- Brüggemann, Norbert;
- Borsche, Max;
- Foroud, Tatiana;
- Tolosa, Eduardo
Publication type:
Article
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study.
Published in:
Movement Disorders, 2022, v. 37, n. 12, p. 2427, doi. 10.1002/mds.29221
By:
- Rosenbohm, Angela;
- Pott, Hendrik;
- Thomsen, Mirja;
- Rafehi, Haloom;
- Kaya, Sabine;
- Szymczak, Silke;
- Volk, Alexander E.;
- Mueller, Kathrin;
- Silveira, Isabel;
- Weishaupt, Jochen H.;
- Tönnies, Holger;
- Seibler, Philip;
- Zschiedrich, Katja;
- Schaake, Susen;
- Westenberger, Ana;
- Zühlke, Christine;
- Depienne, Christel;
- Trinh, Joanne;
- Ludolph, Albert C.;
- Klein, Christine
Publication type:
Article
Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
Published in:
Movement Disorders, 2021, v. 36, n. 11, p. 2468, doi. 10.1002/mds.28753
By:
- Balck, Alexander;
- Schaake, Susen;
- Kuhnke, Neele Sophie;
- Domingo, Aloysius;
- Madoev, Harutyun;
- Margolesky, Jason;
- Dobricic, Valerija;
- Alvarez‐Fischer, Daniel;
- Laabs, Björn‐Hergen;
- Kasten, Meike;
- Luo, Wei;
- Nicolas, Gael;
- Marras, Connie;
- Lohmann, Katja;
- Klein, Christine;
- Westenberger, Ana
Publication type:
Article
Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Published in:
Movement Disorders, 2021, v. 36, n. 7, p. 1499, doi. 10.1002/mds.28517
By:
- Wittke, Christina;
- Petkovic, Sonja;
- Dobricic, Valerija;
- Schaake, Susen;
- Arzberger, Thomas;
- Compta, Yaroslau;
- Englund, Elisabet;
- Ferguson, Leslie W.;
- Gelpi, Ellen;
- Roeber, Sigrun;
- Giese, Armin;
- Grossman, Murray;
- Irwin, David J.;
- Meissner, Wassilios G.;
- Nilsson, Christer;
- Pantelyat, Alexander;
- Rajput, Alex;
- Swieten, John C.;
- Troakes, Claire;
- Respondek, Gesine
Publication type:
Article
Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Published in:
Movement Disorders, 2021, v. 36, n. 5, p. 1086, doi. 10.1002/mds.28485
By:
- Lange, Lara M.;
- Junker, Johanna;
- Loens, Sebastian;
- Baumann, Hauke;
- Olschewski, Luisa;
- Schaake, Susen;
- Madoev, Harutyun;
- Petkovic, Sonja;
- Kuhnke, Neele;
- Kasten, Meike;
- Westenberger, Ana;
- Domingo, Aloysius;
- Marras, Connie;
- König, Inke R.;
- Camargos, Sarah;
- Ozelius, Laurie J.;
- Klein, Christine;
- Lohmann, Katja
Publication type:
Article
DNA Methylation as a Potential Molecular Mechanism in X‐linked Dystonia‐Parkinsonism.
Published in:
Movement Disorders, 2020, v. 35, n. 12, p. 2220, doi. 10.1002/mds.28239
By:
- Krause, Christin;
- Schaake, Susen;
- Grütz, Karen;
- Sievert, Helen;
- Reyes, Charles Jourdan;
- König, Inke R.;
- Laabs, Björn‐Hergen;
- Jamora, Roland Dominic;
- Rosales, Raymond L.;
- Diesta, Cid Czarina E.;
- Pozojevic, Jelena;
- Gemoll, Timo;
- Westenberger, Ana;
- Kaiser, Frank J.;
- Klein, Christine;
- Kirchner, Henriette
Publication type:
Article
Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.887644
By:
- Lüth, Theresa;
- Schaake, Susen;
- Grünewald, Anne;
- May, Patrick;
- Trinh, Joanne;
- Weissensteiner, Hansi
Publication type:
Article
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Published in:
Genes, 2022, v. 13, n. 1, p. 126, doi. 10.3390/genes13010126
By:
- Lüth, Theresa;
- Laβ, Joshua;
- Schaake, Susen;
- Wohlers, Inken;
- Pozojevic, Jelena;
- Jamora, Roland Dominic G.;
- Rosales, Raymond L.;
- Brüggemann, Norbert;
- Saranza, Gerard;
- Diesta, Cid Czarina E.;
- Schlüter, Kathleen;
- Tse, Ronnie;
- Reyes, Charles Jourdan;
- Brand, Max;
- Busch, Hauke;
- Klein, Christine;
- Westenberger, Ana;
- Trinh, Joanne
Publication type:
Article
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Published in:
Genes, 2017, v. 8, n. 10, p. 276, doi. 10.3390/genes8100276
By:
- Hebert, Eva;
- Borngräber, Friederike;
- Schmidt, Alexander;
- Rakovic, Aleksandar;
- Brænne, Ingrid;
- Weissbach, Anne;
- Hampf, Jennie;
- Vollstedt, Eva-Juliane;
- Größer, Leopold;
- Schaake, Susen;
- Müller, Michaela;
- Manzoor, Humera;
- Jabusch, Hans-Christian;
- Alvarez-Fischer, Daniel;
- Kasten, Meike;
- Kostic, Vladimir S.;
- Gasser, Thomas;
- Zeuner, Kirsten E.;
- Han-Joon Kim;
- Beomseok Jeon
Publication type:
Article
Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review.
Published in:
2018
By:
- Trinh, Joanne;
- Zeldenrust, Florentine M.J.;
- Huang, Jana;
- Kasten, Meike;
- Schaake, Susen;
- Petkovic, Sonja;
- Madoev, Harutyun;
- Grünewald, Anne;
- Almuammar, Shahad;
- König, Inke R.;
- Lill, Christina M.;
- Lohmann, Katja;
- Klein, Christine;
- Marras, Connie
Publication type:
journal article
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.
Published in:
2018
By:
- Kasten, Meike;
- Hartmann, Corinna;
- Hampf, Jennie;
- Schaake, Susen;
- Westenberger, Ana;
- Vollstedt, Eva‐Juliane;
- Balck, Alexander;
- Domingo, Aloysius;
- Vulinovic, Franca;
- Dulovic, Marija;
- Zorn, Ingo;
- Madoev, Harutyun;
- Zehnle, Hanna;
- Lembeck, Christina M.;
- Schawe, Leopold;
- Reginold, Jennifer;
- Huang, Jana;
- König, Inke R.;
- Bertram, Lars;
- Marras, Connie
Publication type:
journal article
Mutations in TUBB4A and spastic paraplegia.
Published in:
2015
By:
- Kumar, Kishore R.;
- Vulinovic, Franca;
- Lohmann, Katja;
- Park, Jin‐Sung;
- Schaake, Susen;
- Sue, Carolyn M.;
- Klein, Christine
Publication type:
commentary

Found: 31