نتائج بحث المؤلف :: APM

1

SIRT6 is a key regulator of mitochondrial function in the brain حسب Dmitrii Smirnov, Ekaterina Eremenko, Daniel Stein, Shai Kaluski, Weronika Jasińska, Claudia Cosentino, Bárbara Martínez-Pastor, Yariv Brotman, Raúl Mostoslavsky, Ekaterina Khrameeva, Debra Toiber

منشور في 2023

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Artigo

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2

Heterozygous <i>BRCA1</i> and <i>BRCA2</i> and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer حسب Christian P. Kratz, Dmitrii Smirnov, Robert J. Autry, Natalie Jäger, Sebastian M. Waszak, Anika Großhennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M. Pfister, Holger Prokisch, Tim Ripperger, David Malkin

منشور في 2022

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Revisão

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3

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders حسب Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton, Stefan Loipfinger, Chen Meng, Ines F. Scheller, Peter Freisinger, Robert Baski, Riccardo Berutti, Jürgen Behr, Martina Bucher, Felix Distelmaier, Elisabeth Graf, Mirjana Gušić, Maja Hempel, Lea Kulterer, Johannes A. Mayr, Thomas Meitinger, Christian Mertes, Metodi D. Metodiev, Agnieszka Nadel, Alessia Nasca, Akira Ohtake, Yasushi Okazaki, Rikke Katrine Jentoft Olsen, Dorota Piekutowska‐Abramczuk, Agnès Rötig, René Santer, Detlev Schindler, Abdelhamid Slama, Christian Staufner, Tim M. Strom, Patrick Verloo, Jürgen‐Christoph von Kleist-Retzow, Saskia B. Wortmann, Vicente A. Yépez, Costanza Lamperti, Daniele Ghezzi, Kei Murayama, Christina Ludwig, Julien Gagneur, Holger Prokisch

منشور في 2021

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Pré-impressão

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4

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy حسب Serena J. Aleo, Valentina Del Dotto, Martina Romagnoli, Claudio Fiorini, Giada Capirossi, Camille Peron, Alessandra Maresca, Leonardo Caporali, Mariantonietta Capristo, Concetta Valentina Tropeano, Claudia Zanna, Fred N. Ross‐Cisneros, Alfredo A. Sadun, Maria Gemma Pignataro, Carla Giordano, Chiara Fasano, Andrea Cavaliere, Anna Maria Porcelli, Gaia Tioli, Francesco Musiani, Alessia Catania, Costanza Lamperti, Stefania Bianchi Marzoli, A. De Negri, Maria Lucia Cascavilla, Marco Battista, Piero Barboni, Michele Carbonelli, Giulia Amore, Chiara La Morgia, Dmitrii Smirnov, Catalina Vasilescu, Aiman Farzeen, Beryll Blickhaeuser, Holger Prokisch, Claudia Priglinger, Bettina von Livonius, Claudia B. Catarino, Thomas Klopstock, Valeria Tiranti, Valério Carelli, Anna Ghelli

منشور في 2024

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Artigo

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5

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia حسب Michael Zech, Ivana Dzinovic, Matěj Škorvánek, Philip Harrer, Ján Necpál, Robert Kopajtich, Volker Kittke, Erik Tilch, Chen Zhao, Eugenia Tsoma, Ugo Sorrentino, Elisabetta Indelicato, A. Stehr, Alice Saparov, Lucia Abela, Miriam Adamovičová, Alexandra Afenjar, Birgit Assmann, Janette Baloghová, Matthias Baumann, Riccardo Berutti, Zuzana Brežná, Melanie Brugger, Theresa Brunet, Benjamin Cogné, Isabel Colangelo, Erin Conboy, Ertan Mayatepek, Matthias Eckenweiler, Barbara Garavaglia, Arie Geerlof, Elisabeth Graf, Annette Hackenberg, Denisa Harvanová, Bernhard Haslinger, Petra Havránková, Georg F. Hoffmann, Wibke G. Janzarik, Boris Keren, Miriam Kolníková, Konstantinos Kolokotronis, Zuzana Košutzká, Anne Koy, Martin Krenn, Magdalena Krygier, Katarína Kušíková, Oliver Maier, Thomas Meitinger, Christian Mertes, Ivan Milenković, Edoardo Monfrini, André Mourão, Thomas Musacchio, Mathilde Nizon, Miriam Ostrožovičová, Martin Pavlov, Iva Příhodová, Irena Rektorová, Luigi Romito, Barbora Rybanska, Ariane Sadr‐Nabavi, Susanne Schwenger, Ali Shoeibi, Alexandra Sitzberger, Dmitrii Smirnov, Jana Svantnerova, Raushana Tautanova, Sandra P. Toelle, Olga Ulmanová, Francesco Vetrini, Katharina Vill, Matias Wagner, David Weise, Giovanna Zorzi, Alessio Di Fonzo, Konrad Oexle, Steffen Berweck, Volker Mall, Sylvia Boesch, Barbara Schormair, Holger Prokisch, Robert Jech, H. Mann

منشور في 2025

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Artigo

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6

Genetic landscape of pediatric acute liver failure of indeterminate origin حسب Dominic Lenz, Lea D. Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, Riccardo Berutti, Rüdiger Adam, Denise Aldrian, Ivo Barić, Ulrich Baumann, Neslihan Ekşi Bozbulut, Melanie Brugger, Theresa Brunet, Philip Bufler, Birutė Burnytė, Pier Luigi Calvo, Ellen Crushell, Buket Dalgıç, Anibh M. Das, Antal Dezsöfi, Felix Distelmaier, Alexander Fichtner, Peter Freisinger, Sven F. Garbade, Harald Gaspar, Louise Goujon, Nedim Hadžić, Steffen Hartleif, Bianca Hegen, Maja Hempel, Stephan Henning, André Hoerning, Roderick H.J. Houwen, Joanne Hughes, Raffaele Iorio, Katarzyna Iwanicka‐Pronicka, Martin Jankofsky, Norman Junge, Ino Kanavaki, Aydan Kansu, Sonja Kaspar, Simone Kathemann, Deidre Kelly, Ceyda Tuna Kırşaçlıoğlu, Birgit Knoppke, Martina Kohl, Heike Kölbel, Stefan Kölker, Vassiliki Konstantopoulou, Tatiana Krylova, Zarife Kuloğlu, Alice Kuster, Martin W. Laaß, Elke Lainka, Eberhard Lurz, Hanna Mandel, Katharina Mayerhanser, Johannes A. Mayr, Patrick McKiernan, Patricia McClean, Valérie A. McLin, Karine Mention, Hanna Müller, Laurent Pasquier, Martin Pavlov, Natalia L. Pechatnikova, Bianca Peters, Danijela Petković Ramadža, Dorota Piekutowska‐Abramczuk, Denisa Pilic, Sanjay Rajwal, Nathalie Rock, Agnès Roetig, René Santer, Wilfried Schenk, Наталя Семенова, Christiane Sokollik, Ekkehard Sturm, Robert W. Taylor, Eva Tschiedel, Vaidotas Urbonas, Roser Urreizti, Jan Vermehren, Jerry Vockley, Georg-Friedrich Vogel, Matias Wagner, Wendy van der Woerd, Saskia B. Wortmann, Ekaterina Zakharova, Georg F. Hoffmann, Thomas Meitinger, Kei Murayama, Christian Staufner, Holger Prokisch

منشور في 2023

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Artigo

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