Búsqueda | Biblioteca Virtual en Salud

1.

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

Aneichyk, Tatsiana; Hendriks, William T; Yadav, Rachita; Shin, David; Gao, Dadi; Vaine, Christine A; Collins, Ryan L; Domingo, Aloysius; Currall, Benjamin; Stortchevoi, Alexei; Multhaupt-Buell, Trisha; Penney, Ellen B; Cruz, Lilian; Dhakal, Jyotsna; Brand, Harrison; Hanscom, Carrie; Antolik, Caroline; Dy, Marisela; Ragavendran, Ashok; Underwood, Jason; Cantsilieris, Stuart; Munson, Katherine M; Eichler, Evan E; Acuña, Patrick; Go, Criscely; Jamora, R Dominic G; Rosales, Raymond L; Church, Deanna M; Williams, Stephen R; Garcia, Sarah; Klein, Christine; Müller, Ulrich; Wilhelmsen, Kirk C; Timmers, H T Marc; Sapir, Yechiam; Wainger, Brian J; Henderson, Daniel; Ito, Naoto; Weisenfeld, Neil; Jaffe, David; Sharma, Nutan; Breakefield, Xandra O; Ozelius, Laurie J; Bragg, D Cristopher; Talkowski, Michael E.

Cell ; 172(5): 897-909.e21, 2018 02 22.

Artículo Inglés | MEDLINE | ID: mdl-29474918

2.

Multiomics analysis identifies novel facilitators of human dopaminergic neuron differentiation.

Gomez Ramos, Borja; Ohnmacht, Jochen; de Lange, Nikola; Valceschini, Elena; Ginolhac, Aurélien; Catillon, Marie; Ferrante, Daniele; Rakovic, Aleksandar; Halder, Rashi; Massart, François; Arena, Giuseppe; Antony, Paul; Bolognin, Silvia; Klein, Christine; Krause, Roland; Schulz, Marcel H; Sauter, Thomas; Krüger, Rejko; Sinkkonen, Lasse.

EMBO Rep ; 25(1): 254-285, 2024 Jan.

Artículo Inglés | MEDLINE | ID: mdl-38177910

3.

Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease.

Arena, Giuseppe; Landoulsi, Zied; Grossmann, Dajana; Payne, Thomas; Vitali, Armelle; Delcambre, Sylvie; Baron, Alexandre; Antony, Paul; Boussaad, Ibrahim; Bobbili, Dheeraj Reddy; Sreelatha, Ashwin Ashok Kumar; Pavelka, Lukas; J Diederich, Nico; Klein, Christine; Seibler, Philip; Glaab, Enrico; Foltynie, Thomas; Bandmann, Oliver; Sharma, Manu; Krüger, Rejko; May, Patrick; Grünewald, Anne.

Ann Neurol ; 2024 May 20.

Artículo Inglés | MEDLINE | ID: mdl-38767023

4.

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

Kluge, Annika; Borsche, Max; Streubel-Gallasch, Linn; Gül, Tugçe; Schaake, Susen; Balck, Alexander; Prasuhn, Jannik; Campbell, Philip; Morris, Huw R; Schapira, Anthony H; Lohmann, Katja; Brüggemann, Norbert; Rakovic, Aleksandar; Seibler, Philip; Basak, A Nazli; Berg, Daniela; Klein, Christine.

Ann Neurol ; 95(6): 1173-1177, 2024 Jun.

Artículo Inglés | MEDLINE | ID: mdl-38546204

5.

Exercise therapy for chronic symptomatic peripheral artery disease.

Mazzolai, Lucia; Belch, Jill; Venermo, Maarit; Aboyans, Victor; Brodmann, Marianne; Bura-Rivière, Alessandra; Debus, Sebastien; Espinola-Klein, Christine; Harwood, Amy E; Hawley, John A; Lanzi, Stefano; Madaric, Juraj; Mahé, Guillaume; Malatesta, Davide; Schlager, Oliver; Schmidt-Trucksäss, Arno; Seenan, Chris; Sillesen, Henrik; Tew, Garry A; Visonà, Adriana.

Eur Heart J ; 45(15): 1303-1321, 2024 Apr 14.

Artículo Inglés | MEDLINE | ID: mdl-38461405

6.

DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.

Diaw, Sokhna Haissatou; Delcambre, Sylvie; Much, Christoph; Ott, Fabian; Kostic, Vladimir S; Gajos, Agata; Münchau, Alexander; Zittel, Simone; Busch, Hauke; Grünewald, Anne; Klein, Christine; Lohmann, Katja.

Neurogenetics ; 25(2): 141-147, 2024 Apr.

Artículo Inglés | MEDLINE | ID: mdl-38498291

7.

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

Hanssen, Henrike; Diesta, Cid C E; Heldmann, Marcus; Dy, Jackson; Tantianpact, Jeffrey; Steinhardt, Julia; Sauza, Rosanna; Manalo, Hans T S; Sprenger, Andreas; Reyes, Charles Jourdan; Tuazon, Raphael; Laabs, Björn-Hergen; Domingo, Aloysius; Rosales, Raymond L; Klein, Christine; Münte, Thomas F; Westenberger, Ana; Oropilla, Jean Q; Brüggemann, Norbert.

Ann Neurol ; 93(5): 999-1011, 2023 05.

Artículo Inglés | MEDLINE | ID: mdl-36646669

8.

Rethinking Movement Disorders.

Münchau, Alexander; Klein, Christine; Beste, Christian.

Mov Disord ; 39(3): 472-484, 2024 Mar.

Artículo Inglés | MEDLINE | ID: mdl-38196315

9.

Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis.

Saffie Awad, Paula; Teixeira-Dos-Santos, Daniel; Santos-Lobato, Bruno Lopes; Camargos, Sarah; Cornejo-Olivas, Mario; de Mello Rieder, Carlos Roberto; Mata, Ignacio F; Chaná-Cuevas, Pedro; Klein, Christine; Schumacher Schuh, Artur F.

Mov Disord ; 39(1): 6-16, 2024 Jan.

Artículo Inglés | MEDLINE | ID: mdl-37921246

10.

ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series.

Milovanovic, Andona; Westenberger, Ana; Stankovic, Iva; Tamas, Olivera; Brankovic, Marija; Marjanovic, Ana; Laabs, Björn-Hergen; Brand, Max; Rajalingam, Rajasumi; Marras, Connie; Lohmann, Katja; Brankovic, Vesna; Novakovic, Ivana; Petrovic, Igor; Svetel, Marina; Klein, Christine; Kostic, Vladimir S; Dragasevic-Miskovic, Natasa.

Mov Disord ; 39(5): 887-892, 2024 May.

Artículo Inglés | MEDLINE | ID: mdl-38469933

11.

Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism.

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.

Mov Disord ; 2024 Apr 14.

Artículo Inglés | MEDLINE | ID: mdl-38616406

12.

Transitioning from Subtyping to Precision Medicine in Parkinson's Disease: A Purpose-Driven Approach.

Marras, Connie; Fereshtehnejad, Seyed-Mohammad; Berg, Daniela; Bohnen, Nicolaas I; Dujardin, Kathy; Erro, Roberto; Espay, Alberto J; Halliday, Glenda; Van Hilten, Jacobus J; Hu, Michele T; Jeon, Beomseok; Klein, Christine; Leentjens, Albert F G; Mollenhauer, Brit; Postuma, Ronald B; Rodríguez-Violante, Mayela; Simuni, Tanya; Weintraub, Daniel; Lawton, Michael; Mestre, Tiago A.

Mov Disord ; 39(3): 462-471, 2024 Mar.

Artículo Inglés | MEDLINE | ID: mdl-38243775

13.

Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.

Thomsen, Mirja; Marth, Katrin; Loens, Sebastian; Everding, Judith; Junker, Johanna; Borngräber, Friederike; Ott, Fabian; Jesús, Silvia; Gelderblom, Mathias; Odorfer, Thorsten; Kuhlenbäumer, Gregor; Kim, Han-Joon; Schaeffer, Eva; Becktepe, Jos; Kasten, Meike; Brüggemann, Norbert; Pfister, Robert; Kollewe, Katja; Krauss, Joachim K; Lohmann, Ebba; Hinrichs, Frauke; Berg, Daniela; Jeon, Beomseok; Busch, Hauke; Altenmüller, Eckart; Mir, Pablo; Kamm, Christoph; Volkmann, Jens; Zittel, Simone; Ferbert, Andreas; Zeuner, Kirsten E; Rolfs, Arndt; Bauer, Peter; Kühn, Andrea A; Bäumer, Tobias; Klein, Christine; Lohmann, Katja.

Mov Disord ; 39(3): 526-538, 2024 Mar.

Artículo Inglés | MEDLINE | ID: mdl-38214203

14.

Exercise Therapy for Chronic Symptomatic Peripheral Artery Disease: A Clinical Consensus Document of the European Society of Cardiology Working Group on Aorta and Peripheral Vascular Diseases in Collaboration With the European Society of Vascular Medicine and the European Society for Vascular Surgery.

Mazzolai, Lucia; Belch, Jill; Venermo, Maarit; Aboyans, Victor; Brodmann, Marianne; Bura-Rivière, Alessandra; Debus, Sebastien; Espinola-Klein, Christine; Harwood, Amy E; Hawley, John A; Lanzi, Stefano; Madaric, Juraj; Mahé, Guillaume; Malatesta, Davide; Schlager, Oliver; Schmidt-Trucksäss, Arno; Seenan, Chris; Sillesen, Henrik; Tew, Garry A; Visonà, Adriana.

Eur J Vasc Endovasc Surg ; 2024 Feb 16.

Artículo Inglés | MEDLINE | ID: mdl-38467522

15.

Estimates of protection levels against SARS-CoV-2 infection and severe COVID-19 in Germany before the 2022/2023 winter season: the IMMUNEBRIDGE project.

Lange, Berit; Jaeger, Veronika K; Harries, Manuela; Rücker, Viktoria; Streeck, Hendrik; Blaschke, Sabine; Petersmann, Astrid; Toepfner, Nicole; Nauck, Matthias; Hassenstein, Max J; Dreier, Maren; von Holt, Isabell; Budde, Axel; Bartz, Antonia; Ortmann, Julia; Kurosinski, Marc-André; Berner, Reinhard; Borsche, Max; Brandhorst, Gunnar; Brinkmann, Melanie; Budde, Kathrin; Deckena, Marek; Engels, Geraldine; Fenzlaff, Marc; Härtel, Christoph; Hovardovska, Olga; Katalinic, Alexander; Kehl, Katja; Kohls, Mirjam; Krüger, Stefan; Lieb, Wolfgang; Meyer-Schlinkmann, Kristin M; Pischon, Tobias; Rosenkranz, Daniel; Rübsamen, Nicole; Rupp, Jan; Schäfer, Christian; Schattschneider, Mario; Schlegtendal, Anne; Schlinkert, Simon; Schmidbauer, Lena; Schulze-Wundling, Kai; Störk, Stefan; Tiemann, Carsten; Völzke, Henry; Winter, Theresa; Klein, Christine; Liese, Johannes; Brinkmann, Folke; Ottensmeyer, Patrick F.

Infection ; 52(1): 139-153, 2024 Feb.

Artículo Inglés | MEDLINE | ID: mdl-37530919

16.

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

Trinh, Joanne; Lüth, Theresa; Schaake, Susen; Laabs, Björn-Hergen; Schlüter, Kathleen; Laß, 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.

Brain ; 146(3): 1075-1082, 2023 03 01.

Artículo Inglés | MEDLINE | ID: mdl-35481544

17.

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

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; Kostic, Vladimir; Lang, Anthony E; Brüggemann, Norbert; Pramstaller, Peter P; Pichler, Irene; Rajput, Alex; Hattori, Nobutaka; Farrer, Matthew J; Lohmann, Katja; Weissensteiner, Hansi; May, Patrick; Klein, Christine; Grünewald, Anne.

Brain ; 146(7): 2753-2765, 2023 07 03.

Artículo Inglés | MEDLINE | ID: mdl-36478228

18.

Parkin and PINK1 mitigate STING-induced inflammation.

Sliter, Danielle A; Martinez, Jennifer; Hao, Ling; Chen, Xi; Sun, Nuo; Fischer, Tara D; Burman, Jonathon L; Li, Yan; Zhang, Zhe; Narendra, Derek P; Cai, Huaibin; Borsche, Max; Klein, Christine; Youle, Richard J.

Nature ; 561(7722): 258-262, 2018 09.

Artículo Inglés | MEDLINE | ID: mdl-30135585

19.

MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.

Shafique, Anum; Arif, Beenish; Chu, Mary Lynn; Moran, Ellen; Hussain, Tooba; Zamora, Francisca Millan; Wohler, Elizabeth; Sobreira, Nara; Klein, Christine; Lohmann, Katja; Naz, Sadaf.

J Med Genet ; 60(4): 352-358, 2023 04.

Artículo Inglés | MEDLINE | ID: mdl-36002240

20.

Ceramide accumulation induces mitophagy and impairs ß-oxidation in PINK1 deficiency.

Vos, Melissa; Dulovic-Mahlow, Marija; Mandik, Frida; Frese, Lisa; Kanana, Yuliia; Haissatou Diaw, Sokhna; Depperschmidt, Julia; Böhm, Claudia; Rohr, Jonas; Lohnau, Thora; König, Inke R; Klein, Christine.

Proc Natl Acad Sci U S A ; 118(43)2021 10 26.

Artículo Inglés | MEDLINE | ID: mdl-34686591

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