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Markus Schuelke

1998–2025 年に発表

78
論文数
20,486
被引用数
54
h 指数
72
i10 指数

被引用数

Markus Schuelke の年別被引用数1978 年: 被引用 1 件1984 年: 被引用 1 件1987 年: 被引用 2 件1990 年: 被引用 1 件1998 年: 被引用 3 件1999 年: 被引用 8 件2000 年: 被引用 7 件2001 年: 被引用 30 件2002 年: 被引用 10 件2003 年: 被引用 27 件2004 年: 被引用 37 件2005 年: 被引用 40 件2006 年: 被引用 52 件2007 年: 被引用 75 件2008 年: 被引用 92 件2009 年: 被引用 93 件2010 年: 被引用 122 件2011 年: 被引用 176 件2012 年: 被引用 179 件2013 年: 被引用 189 件2014 年: 被引用 204 件2015 年: 被引用 229 件2016 年: 被引用 223 件2017 年: 被引用 155 件2018 年: 被引用 161 件2019 年: 被引用 646 件2020 年: 被引用 648 件2021 年: 被引用 582 件2022 年: 被引用 392 件2023 年: 被引用 220 件2024 年: 被引用 458 件2025 年: 被引用 163 件2026 年: 被引用 4 件1979〜1983 年は被引用が無いため表示していません1985〜1986 年は被引用が無いため表示していません1988〜1989 年は被引用が無いため表示していません1991〜1997 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 1,990 件、この内訳の 20%ドイツ: 引用元論文 862 件、この内訳の 8.7%イギリス: 引用元論文 768 件、この内訳の 7.7%中国: 引用元論文 621 件、この内訳の 6.3%イタリア: 引用元論文 501 件、この内訳の 5%フランス: 引用元論文 499 件、この内訳の 5%カナダ: 引用元論文 382 件、この内訳の 3.8%オランダ: 引用元論文 327 件、この内訳の 3.3%オーストラリア: 引用元論文 319 件、この内訳の 3.2%スペイン: 引用元論文 310 件、この内訳の 3.1%日本: 引用元論文 294 件、この内訳の 3%ベルギー: 引用元論文 178 件、この内訳の 1.8%
0%20%その他 29.1%

機関

分野

  • Biochemistry, Genetics and Molecular Biology59.6%
  • Medicine25.7%
  • Neuroscience7.3%
  • Agricultural and Biological Sciences2.9%
  • Immunology and Microbiology1.8%
  • Environmental Science0.9%
  • その他1.8%

トピック

  • Genomics and Rare Diseases4.3%
  • Mitochondrial Function and Pathology4.3%
  • Muscle Physiology and Disorders3.5%
  • RNA modifications and cancer2.3%
  • Metabolism and Genetic Disorders2.3%
  • Genetics and Neurodevelopmental Disorders1.7%
  • その他81.6%

共著者

全論文

検索で開く
  1. MutationTaster2: mutation prediction for the deep-sequencing age

    著者: Jana Marie Schwarz, D.N. Cooper, Markus Schuelke, Dominik Seelow - Nature Methods 2014 被引用: 3,790

  2. MutationTaster evaluates disease-causing potential of sequence alterations

    著者: Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow - Nature Methods 2010 被引用: 3,063

  3. MutationTaster2021

    著者: Robin Steinhaus, Sebastian Proft, Markus Schuelke, David N. Cooper, Jana Marie Schwarz, Dominik Seelow - Nucleic Acids Research, Nucleic Acids Res. 2021 被引用: 329

  4. Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

    著者: Gizem Inak, Agnieszka Rybak‐Wolf, Paweł Lisowski, Tancredi Massimo Pentimalli, René Jüttner, Petar Glažar, Karan Uppal, Emanuela Bottani, Dario Brunetti, Christopher Secker, Annika Zink, David Meierhofer, Marie‐Thérèse Henke, Monishita Dey, Ummi Ciptasari, Barbara Mlody, Tobias Hahn, Maria Berruezo-Llacuna, Nikos Karaiskos, Michela Di Virgilio, Johannes A. Mayr, Saskia B. Wortmann, Josef Priller, Michael Gotthardt, Dean P. Jones, Ertan Mayatepek, Werner Stenzel, Sebastian Diecke, Ralf Kühn, Erich E. Wanker, Nikolaus Rajewsky, Markus Schuelke, Alessandro Prigione - Nature Communications 2021 被引用: 137

  5. Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child

    著者: Markus Schuelke, Kathryn R. Wagner, Leslie E. Stolz, Christoph Hübner, T Riebel, Wolfgang Kömen, Thomas Braun, James F. Tobin, Se‐Jin Lee - New England Journal of Medicine 2004 被引用: 1,383

  6. An economic method for the fluorescent labeling of PCR fragments

    著者: Markus Schuelke - Nature Biotechnology 2000 被引用: 3,616

  7. Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders

    著者: Carmen Lorenz, Pierre Lesimple, Raul Bukowiecki, Annika Zink, Gizem Inak, Barbara Mlody, Manvendra Singh, Marcus Semtner, Nancy Mah, Karine Auré, Megan Leong, Oleksandr Zabiegalov, Ekaterini Maria Lyras, Vanessa Pfiffer, Beatrix Fauler, Jenny Eichhorst, Burkhard Wiesner, Norbert Huebner, Josef Priller, Thorsten Mielke, David Meierhofer, Zsuzsanna Izsvák, Jochen C. Meier, Frédéric Bouillaud, James Adjaye, Markus Schuelke, Erich E. Wanker, Anne Lombès, Alessandro Prigione - Cell stem cell 2017 被引用: 171

  8. Transparent Danionella translucida as a genetically tractable vertebrate brain model

    著者: Lisanne Schulze, Jörg Henninger, Mykola Kadobianskyi, Thomas Chaigne, Ana I. Faustino, Nahid Hakiy, Shahad Albadri, Markus Schuelke, Leonard Maler, Filippo Del Bene, Benjamin Judkewitz - Nature Methods 2018 被引用: 107

  9. Lack of myostatin results in excessive muscle growth but impaired force generation

    著者: Helge Amthor, Raymond Macharia, Roberto Navarrete, Markus Schuelke, S. Brown, Anthony Otto, Thomas Voit, Francesco Muntoni, Gerta Vrbovà, Terence A. Partridge, Peter S. Zammit, L. Bünger, Ketan Patel - National Academy of Sciences, Proceedings of the National Academy of Sciences 2007 被引用: 409

  10. Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

    著者: Katja Grohmann, Markus Schuelke, Alexander Diers, Katrin Hoffmann, Barbara Lucke, Coleen Adams, Enrico Bertini, Hajnalka Leonhardt-Horti, Francesco Muntoni, Robert Ouvrier, Arne Pfeufer, Rainer Rossi, Lionel Van Maldergem, Jo M. Wilmshurst, Thomas F. Wienker, Michael Sendtner, Sabine Rudnik‐Schöneborn, Klaus Zerres, Christoph Hübner - Nature Genetics 2001 被引用: 344

  11. Complement deposition at the neuromuscular junction in seronegative myasthenia gravis

    著者: Sarah Hoffmann, Lutz Harms, Markus Schuelke, Jens‐Carsten Rückert, Hans‐Hilmar Goebel, Werner Stenzel, Andreas Meisel - Acta Neuropathologica 2020 被引用: 49

  12. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

    著者: Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A. Mayr, Ulrike Herberg, Julia B. Hennermann, Thomas Klopstock, Klaus A. Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F. Hoffmann, Markéta Tesařová, Hana Hansíková, J Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M. Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch - Journal of Medical Genetics 2012 被引用: 185

  13. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

    著者: Ulf‐Peter Guenther, Lusy Handoko, Bernhard Laggerbauer, Sibylle Jablonka, Ashwin Chari, Mona Alzheimer, Jürgen Ohmer, Oliver Plöttner, Niels H. Gehring, Albert Sickmann, Katja von Au, Markus Schuelke, Utz Fischer - Human Molecular Genetics 2009 被引用: 131

  14. Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

    著者: Luís C. López, Markus Schuelke, Catarina M. Quinzii, Tomotake Kanki, Richard J. Rodenburg, Ali Naini, Salvatore DiMauro, Michio Hirano - The American Journal of Human Genetics 2006 被引用: 394

  15. Variants in CPA1 are strongly associated with early onset chronic pancreatitis

    著者: Heiko Witt, Sebastian Beer, Jonas Rosendahl, Jian‐Min Chen, Giriraj R. Chandak, Atsushi Masamune, Melinda Bence, Richárd Szmola, Grzegorz Oracz, Milan Maçek, Eesh Bhatia, Sandra Steigenberger, Denise Lasher, Florence Bühler, Catherine Delaporte, Johanna Tebbing, Maren Ludwig, Claudia Pilsak, Karolin Saum, Peter Bugert, Emmanuelle Masson, Sumit Paliwal, Seema Bhaskar, Agnieszka Sobczyńska‐Tomaszewska, Daniel Bąk, Ivan Balaščák, Gourdas Choudhuri, D. Nageshwar Reddy, G.V. Rao, Varghese Thomas, Kiyoshi Kume, Eriko Nakano, Yoichi Kakuta, Tooru Shimosegawa, Łukasz Durko, András Szabó, Andrea Schnúr, Péter Hegyi, Zoltán Rakonczay, Roland H. Pfützer, Alexander Schneider, David A. Groneberg, Markus Braun, Hartmut Schmidt, Ulrike Witt, Helmut Frieß, Hana Algül, Olfert Landt, Markus Schuelke, Renate Krüger, Bertram Wiedenmann, Frank Schmidt, Klaus‐Peter Zimmer, Péter Kovács, Michael Stümvoll, Matthias Blüher, Thomas Müller, Andreas Janecke, Niels Teich, Robert Grützmann, Hans-Ulrich Schulz, Joachim Mössner, Volker Keim, Matthias Löhr, Claude Férec, Miklós Sahin‐Tóth - Nature Genetics 2013 被引用: 302

  16. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

    著者: Veronika Boczonadi, Juliane Müller, Angela Pyle, Jennifer Munkley, Talya Dor, Jade Quartararo, Ileana Ferrero, Veronika Karcagi, Michele Giunta, Tuomo Polvikoski, Daniel Birchall, Agota Princzinger, Yuval Cinnamon, Susanne Lützkendorf, Henriett Pikó, Mojgan Reza, Laura V. Flórez, Mauro Santibanez‐Koref, Helen Griffin, Markus Schuelke, Orly Elpeleg, Luba Kalaydjieva, Hanns Lochmüller, David J. Elliott, Patrick F. Chinnery, Simon Edvardson, Rita Horváth - Nature Communications 2014 被引用: 158

  17. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

    著者: Christopher A. Powell, Robert Kopajtich, Aaron R. D’Souza, Joanna Rorbach, Laura S. Kremer, Ralf A. Husain, Cristina Dallabona, Claudia Donnini, Charlotte L. Alston, Helen Griffin, Angela Pyle, Patrick F. Chinnery, Tim M. Strom, Thomas Meitinger, Richard J. Rodenburg, Gudrun Schottmann, Markus Schuelke, Nadine Romain, Ronald G. Haller, Ileana Ferrero, Tobias B. Haack, Robert W. Taylor, Holger Prokisch, Michal Minczuk - The American Journal of Human Genetics 2015 被引用: 104

  18. Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body Myositis

    著者: Felix Kleefeld, Akinori Uruha, Anne Schänzer, Anna Nishimura, Andreas Roos, Udo Schneider, Hans H. Goebel, Markus Schuelke, Katrin Hahn, Corinna Preuße, Werner Stenzel - Neurology 2022 被引用: 44

  19. Defining the ATPome reveals cross-optimization of metabolic pathways

    著者: Neal K. Bennett, Mai K. Nguyen, Maxwell A. Darch, Hiroki J. Nakaoka, Derek Cousineau, Johanna ten Hoeve, Thomas G. Graeber, Markus Schuelke, Emin Maltepe, Martin Kampmann, Bryce A. Mendelsohn, Jean L. Nakamura, Ken Nakamura - Nature Communications 2020 被引用: 39

  20. Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

    著者: Anna Rajab, Volker Straub, Liza McCann, Dominik Seelow, Raymonda Varon, Rita Barresi, Anne Schulze, Barbara Lucke, Susanne Lützkendorf, Mohsen Karbasiyan, Sebastian Bachmann, Simone Spuler, Markus Schuelke - PLoS Genetics 2010 被引用: 238

  21. Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

    著者: Luís C. López, Catarina M. Quinzii, Estela Área-Gómez, Ali Naini, Shamima Rahman, Markus Schuelke, Leonardo Salviati, Salvatore DiMauro, Michio Hirano - PLoS ONE 2010 被引用: 123

  22. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    著者: Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A. Botía, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcová, SYNAPS Study Group, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrottı, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, James E. Rothman, Dimitri M. Kullmann, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Shen‐Yang Lim, Mohd. Farooq Shaikh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves Dauvilliers, Carlo Minetti, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Menelaos Pipis, Conceição Bettencourt, Simon Rinaldi, Laurence E. Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale de Lonlay, Vincent Cantagrel, M. Aguennouz, M. El Khorassani, Miriam Schmidts, Fowzan S. Alkuraya, Simon Edvardson, Maria Nolano, Jérôme Devaux, Henry Houlden - Brain 2019 被引用: 69

  23. HomozygosityMapper - an interactive approach to homozygosity mapping

    著者: Dominik Seelow, Markus Schuelke, Friedhelm Hildebrandt, Peter Nürnberg - Nucleic Acids Research, Nucleic Acids Res. 2009 被引用: 375

  24. Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria

    著者: Oliver Kann, Christine Huchzermeyer, Richard J. Kovacs, S Wirtz, Markus Schuelke - Brain 2010 被引用: 185