日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

整合长读长纳米孔测序技术以精确解析肌张力障碍中的基因组变异

Sorrentino, Ugo; Pavlov, Martin; Mirza-Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M; Wagner, Matias; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne; Di Fonzo, Alessio; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra; Tautanova, Raushana; Lösecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael

The Diverse Neuromuscular Spectrum of VPS13A Disease

VPS13A疾病的多样化神经肌肉谱

Buchberger, Anne; Riedel, Evamaria; Hackenberg, Marie; Mensch, Alexander; Beck-Woedl, Stefanie; Park, Joohyun; Haack, Tobias B; Haslinger, Bernhard; Kirschke, Jan; Prokisch, Holger; Hermann, Andreas; Mawrin, Christian; Danek, Adrian; Schoser, Benedikt; Peikert, Kevin; Deschauer, Marcus; Cordts, Isabell

Association of DNA methylation with hypertension and blood pressure: a 7-year longitudinal study from KORA F4/FF4

DNA甲基化与高血压和血压的关联:一项来自KORA F4/FF4的7年纵向研究

Lai, Liye; Jong, Angelina Shin Yee; Delerue, Thomas; Lin, Jiesheng; Thorand, Barbara; Heier, Margit; Prokisch, Holger; Farzeen, Aiman; Winkelmann, Juliane; Thiering, Elisabeth; Gieger, Christian; Peters, Annette; Waldenberger, Melanie

Single cell spatial transcriptomics integration deciphers the morphological heterogeneity of atherosclerotic carotid arteries

单细胞空间转录组学整合揭示动脉粥样硬化颈动脉的形态异质性

Pauli, Jessica; Garger, Daniel; Peymani, Fatemeh; Wettich, Justus; Sachs, Nadja; Wirth, Johannes; Steiger, Katja; Hillig, Christina; Zhang, Hanrui; Tabas, Ira; Tall, Alan; Li, Mingyao; Reilly, Muredach P; Branzan, Daniela; Prokisch, Holger; Menden, Michael P; Maegdefessel, Lars

Plasma versus serum: which is better for proteomic blood biomarker analysis? Evaluation of the novel NULISA platform

血浆与血清:哪种更适合蛋白质组学血液生物标志物分析?新型NULISA平台的评估

Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger; Song, Yeunjoo E; Wang, Ping; Laux, Renee A; Fuzzell, Sarada L; Hochstetler, Sherri D; Miskimen, Kristy L; Lynn, Audrey; Wang, Weihuan; Liu, Yining; Moore, Noel C; Gulyayev, Alex V; Dorfsman, Daniel A; Caywood, Laura J; Clouse, Jason E; Herington, Sharlene D; Prough, Michael B; Slifer, Susan H; Adams, Larry D; Whitehead, Patrice G; Vance, Jeffery M; Cuccaro, Michael L; Ogrocki, Paula K; Lerner, Alan J; Pericak‐Vance, Margaret; Scott, William K; Bush, William S; Haines, Jonathan L; Griswold, Anthony J; Akinyemi, Rufus O; Rajabli, Farid; Ayele, Biniyam A; Coker, Motunrayo; Scott, Kyle M; Akinwande, Kazeem; Adams, Larry D; Diala, Samuel; Whitehead, Patrice G; McCauley, Jacob L; Ogunronbi, Mayowa; Hamilton‐Nelson, Kara L; Damasceno, Albertino; Zaman, Andrew F; Zewde, Yared Z; NJAMNSHI, Alfred Kongnyu; Caban‐Holt, Allison M; Ndetei, David; Sarfo, Fred Stephen; Akinyemi, Joshua O; Blanton, Susan H; Akpalu, Albert; Cuccaro, Michael L; Wahab, Kolawole; Gugssa, Seid Ali; McInerney, Katalina F; Obiako, Reginald; Baiyewu, Olusegun; Walker, Richard; Mena, Pedro R; Okubadejo, Njideka U; Martinez, Izri M; Kunkle, Brian W; Paddick, Stella‐Maria; Kalaria, Raj; Ogunniyi, Adesola; Vance, Jeffery M; Reitz, Christiane; Seshadri, Sudha; Guerchet, Maëlenn; Tosto, Giuseppe; Williams, Scott M; Bush, William S; Haines, Jonathan L; Byrd, Goldie S; Pericak‐Vance, Margaret; Farinas, Marissa F; Chen, Yijun; Zeng, Xuemei; Nafash, Michel N; Gogola, Alexandra; Kofler, Julia K; Tudorascu, Dana L; Shaaban, C Elizabeth; Lingler, Jennifer H; Pascoal, Tharick A; Klunk, William E; Villemagne, Victor L; Berman, Sarah B; Sweet, Robert; Kamboh, M Ilyas; Ikonomovic, Milos D; Snitz, Beth E; Cohen, Ann D; Lopez, Oscar L; Karikari, Thomas K

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Longitudinal association between DNA methylation and type 2 diabetes: findings from the KORA F4/FF4 study

DNA甲基化与2型糖尿病的纵向关联:KORA F4/FF4研究的发现

Lai, Liye; Juntilla, Dave Laurence; Del C Gomez-Alonso, Monica; Grallert, Harald; Thorand, Barbara; Farzeen, Aiman; Rathmann, Wolfgang; Winkelmann, Juliane; Prokisch, Holger; Gieger, Christian; Herder, Christian; Peters, Annette; Waldenberger, Melanie

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome

FASTKD5基因的双等位基因突变与细胞色素c氧化酶缺乏症以及早发型或晚发型莱氏综合征相关。

Antonicka, Hana; Weraarpachai, Woranontee; Szigety, Katherine M; Kopajtich, Robert; Gibson, James B; Van Hove, Johan L K; Friederich, Marisa W; Lopriore, Piervito; Neuhofer, Christiane; Van Hove, Roxanne A; Cole, Michel A; Reisdorph, Richard; Peterson, James T; Dempsey, Katherine J; Ganetzky, Rebecca D; Mancuso, Michelangelo; Prokisch, Holger; Shoubridge, Eric A

Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes

苍白球的放电模式揭示了不同遗传性肌张力障碍综合征中趋同的神经动力学

Kaymak, Ahmet; Colucci, Fabiana; Ahmadipour, Mahboubeh; Andreasi, Nico Golfrè; Rinaldo, Sara; Israel, Zvi; Arkadir, David; Telese, Roberta; Levi, Vincenzo; Zorzi, Giovanna; Carpaneto, Jacopo; Carecchio, Miryam; Prokisch, Holger; Zech, Michael; Garavaglia, Barbara; Bergman, Hagai; Eleopra, Roberto; Mazzoni, Alberto; Romito, Luigi M

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

扩大与线粒体腺苷三磷酸合成酶缺陷相关的运动障碍的等位基因和临床异质性

Harrer Philip, Krygier Magdalena, Krenn Martin, Kittke Volker, Danis Martin, Krastev Georgi, Saparov Alice, Pichon Virginie, Malbos Marlène, Scherer Clarisse, Dzinovic Ivana, Skorvanek Matej, Kopajtich Robert, Prokisch Holger, Silvaieh Sara, Grisold Anna, Mazurkiewicz-Bełdzińska Maria, de Sainte Agathe Jean-Madeleine, Winkelmann Juliane, Necpal Jan, Jech Robert, Zech Michael