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Haluk Topaloğlu

1994–2025 年に発表

100
論文数
18,554
被引用数
75
h 指数
99
i10 指数

被引用数

Haluk Topaloğlu の年別被引用数1972 年: 被引用 1 件1994 年: 被引用 1 件1995 年: 被引用 10 件1996 年: 被引用 27 件1997 年: 被引用 34 件1998 年: 被引用 32 件1999 年: 被引用 32 件2000 年: 被引用 34 件2001 年: 被引用 47 件2002 年: 被引用 85 件2003 年: 被引用 112 件2004 年: 被引用 89 件2005 年: 被引用 88 件2006 年: 被引用 110 件2007 年: 被引用 71 件2008 年: 被引用 97 件2009 年: 被引用 127 件2010 年: 被引用 74 件2011 年: 被引用 111 件2012 年: 被引用 92 件2013 年: 被引用 124 件2014 年: 被引用 131 件2015 年: 被引用 143 件2016 年: 被引用 128 件2017 年: 被引用 124 件2018 年: 被引用 175 件2019 年: 被引用 583 件2020 年: 被引用 694 件2021 年: 被引用 658 件2022 年: 被引用 478 件2023 年: 被引用 348 件2024 年: 被引用 675 件2025 年: 被引用 203 件2026 年: 被引用 8 件1973〜1993 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 1,839 件、この内訳の 22.7%イギリス: 引用元論文 804 件、この内訳の 10%イタリア: 引用元論文 596 件、この内訳の 7.4%ドイツ: 引用元論文 577 件、この内訳の 7.1%フランス: 引用元論文 414 件、この内訳の 5.1%カナダ: 引用元論文 390 件、この内訳の 4.8%中国: 引用元論文 310 件、この内訳の 3.9%オランダ: 引用元論文 310 件、この内訳の 3.8%オーストラリア: 引用元論文 261 件、この内訳の 3.2%日本: 引用元論文 261 件、この内訳の 3.2%スペイン: 引用元論文 250 件、この内訳の 3.1%ベルギー: 引用元論文 186 件、この内訳の 2.3%
0%22.7%その他 23.4%

機関

分野

  • Biochemistry, Genetics and Molecular Biology49.4%
  • Medicine40%
  • Neuroscience6.9%
  • Nursing1.7%
  • Immunology and Microbiology0.8%
  • Agricultural and Biological Sciences0.3%
  • その他0.9%

トピック

  • Neurogenetic and Muscular Disorders Research9.2%
  • Muscle Physiology and Disorders8.8%
  • RNA modifications and cancer3.7%
  • Cardiomyopathy and Myosin Studies3.4%
  • RNA Research and Splicing2.7%
  • Mitochondrial Function and Pathology2.6%
  • その他69.6%

共著者

全論文

検索で開く
  1. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

    著者: Richard S. Finkel, Eugenio Mercuri, Basil T. Darras, Anne M. Connolly, Nancy L. Kuntz, Janbernd Kirschner, Claudia A. Chiriboga, Kayoko Saito, Laurent Servais, Eduardo F. Tizzano, Haluk Topaloğlu, M. Tulinius, Jacqueline Montes, Allan M. Glanzman, Kathie M. Bishop, Zhensbao Zhong, Sarah Gheuens, C. Frank Bennett, Eugene Schneider, Wildon Farwell, Darryl C. De Vivo - New England Journal of Medicine 2017 被引用: 2,272

  2. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

    著者: Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena Mazzone, Michael G. Vitale, Brian D. Snyder, Susana Quijano‐Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen, Francesco Muntoni, Brunhilde Wirth, Francesco Danilo Tiziano, Janbernd Kirschner, Eduardo F. Tizzano, Haluk Topaloğlu, Kathy Swoboda, Nigel G. Laing, Saito Kayoko, Thomas W. Prior, Wendy K. Chung, Shou‐Mei Wu, Jacqueline Montes, Elena Mazzone, Marion Main, Caron Coleman, Richard Gee, Allan M. Glanzman, Anna‐Karin Kroksmark, Kristin J. Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Michael G. Vitale, Brian D. Snyder, Susana Quijano-Roy, Jean Dubousset, David M. Farrington, Jack Flynn, Matthew A. Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin D. Roye, Paul D. Sponseller, Muharrem Yazici, Rebecca Hurst, Enrico Bertini, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas O. Crawford, Kevin D. Foust, Barbara Kyle, Lance H. Rodan, Helen Roper, Erin Seffrood, Kathryn J. Swoboda, Agnieszka Szlagatys‐Sidorkiewicz - Neuromuscular Disorders 2017 被引用: 1,043

  3. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

    著者: Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda, Wuh‐Liang Hwu, Thomas O. Crawford, Richard S. Finkel, Janbernd Kirschner, Nancy L. Kuntz, Julie Parsons, Monique M. Ryan, Russell J. Butterfield, Haluk Topaloğlu, Tawfeg Ben‐Omran, Valeria Sansone, Yuh‐Jyh Jong, Francy Shu, John F. Staropoli, Douglas A. Kerr, Alfred Sandrock, Christopher Stebbins, Marco Petrillo, Gabriel Braley, Kristina Johnson, Richard Foster, Sarah Gheuens, Ishir Bhan, Sandra P. Reyna, Stephanie Fradette, Wildon Farwell - Neuromuscular Disorders 2019 被引用: 626

  4. The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

    著者: Catherine L. Bladen, David Salgado, Soledad Monges, María Eugenia Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Anna J. Roy, Teodora Chamova, Velina Guergueltcheva, H.S. Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C. Walter, Olivia Schreiber‐Katz, Veronika Karcagi, Marta Garami, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, En Kimura, Zaïda Koeks, J.C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Łusakowska, Anna Kostera‐Pruszczyk, Janusz Zimowski, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milić Rašić, Dina Vojinović, Manuel Posada de la Paz, Clemens Bloetzer, P.Y. Jeannet, Franziska Joncourt, Jordi Díaz‐Manera, Eduard Gallardo, Ayşen Karaduman, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy Shatillo, Ann Martin, Holly L. Peay, M. Bellgard, Janbernd Kirschner, Kevin M. Flanigan, Volker Straub, Kate Bushby, Jan J.G.M. Verschuuren, Annemieke Aartsma‐Rus, Christophe Béroud, Hanns Lochmüller - Human Mutation 2015 被引用: 744

  5. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision

    著者: Peter Van den Bergh, Pieter A. van Doorn, Robert D. M. Hadden, Bert Avau, Patrik Vankrunkelsven, Jeffrey A. Allen, Shahram Attarian, Patricia H. Blomkwist‐Markens, David R. Cornblath, Filip Eftimov, H. Stephan Goedee, Thomas Harbo, Satoshi Kuwabara, Richard A. Lewis, Michael P. Lunn, Eduardo Nobile‐Orazio, Luís Querol, Yusuf A. Rajabally, Claudia Sommer, Haluk Topaloğlu - European Journal of Neurology 2021 被引用: 494

  6. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of theNURTUREstudy

    著者: Thomas O. Crawford, Kathryn J. Swoboda, Darryl C. De Vivo, Enrico Bertini, Wuh‐Liang Hwu, Richard S. Finkel, Janbernd Kirschner, Nancy L. Kuntz, Aledie Navas-Nazario, Julie Parsons, Astrid Pechmann, Monique M. Ryan, Russell J. Butterfield, Haluk Topaloğlu, Tawfeg Ben‐Omran, Valeria Sansone, Yuh‐Jyh Jong, Francy Shu, Cong Zhu, Stephanie Raynaud, Tiffany R. Lago, Angela D. Paradis, Richard Foster, Russell L. Chin, Zdenek Berger, the NURTURE Study Group - Muscle & Nerve 2023 被引用: 107

  7. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

    著者: Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barišić, Fahad A. Bashiri, Lailá Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Ćatibušić, H.S. Chan, Yin‐Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle A. Farrar, Duma Filip, Nathalie Goemans, Kokou Mensah Guinhouya, Jana Haberlová, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanović Radović, David Jacquier, Alusine Jalloh, Maria Jędrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin D. Kernohan, Janbernd Kirschner, Barbara Klink, Sherry Kodsy, Ange-Éric Kouame-Assouan, Ružica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh J. McMillan, Sandra Lucía Restrepo Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Séraphin Nguefack, Kafula Lisa Nkole, Gina O’Grady, Declan O’Rourke, Maryam Oskoui, Flávia Piazzon, Dimitri Poddighe, Audronė Prasauskienė, Juan Carlos Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Chandra Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangaré, Mary Schroth, L. V. Shalkevich, Andriy Shatillo, Renu Suthar, Léna Szabó, Nana Nino Tatishvili, Mériem Tazir, Eduardo F. Tizzano, Haluk Topaloğlu, M. Tulinius, Ludo van der Pol, Gabriel Vázquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo M. Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba - Neuromuscular Disorders 2021 被引用: 172

  8. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

    著者: Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S. Finkel, Kevin M. Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kamińska, Janbernd Kirschner, Francesco Muntoni, A. Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B. Shieh, H. Lee Sweeney, Haluk Topaloğlu, M. Tulinius, Juan J. Vílchez, Thomas Voït, Brenda Wong, Gary Elfring, Hans Kröger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Ferreira de Souza, Robert J. Spiegel, Stuart W. Peltz, Eugenio Mercuri, Lindsay N. Alfano, Michelle Eagle, M. James, Linda Lowes, Anna Mayhew, Elena Mazzone, Leslie Nelson, Kristy Rose, Hoda Abdel‐Hamid, Susan Apkon, Richard J. Barohn, Enrico Bertini, Clemens Bloetzer, Lausanne Canton de Vaud, Russell J. Butterfield, B. Chabrol, Jong‐Hee Chae, Daehak-ro Jongno-gu, Giacomi Pietro Comi, Basil T. Darras, Jahannaz Dastgir, Isabelle Desguerre, Raúl G. Escobar, Erika Finanger, Michela Guglieri, Imelda Hughes, Susan T. Iannaccone, Kristi Jones, Peter Karachunski, Martin Kudr, Timothy Lotze, Jean K. Mah, Katherine D. Mathews, Yoram Nevo, Julie Parsons, Yann Péréon, Alexandra Prufer de Queiroz Campos Araújo, J. Ben Renfroe, Maria Bernadete Dutra de Resende, Monique M. Ryan, Kathryn Selby, Gihan Tennekoon, Giuseppe Vita - The Lancet 2017 被引用: 455

  9. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

    著者: Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. M. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloğlu, Ivo Barić, Elke Holinski‐Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A. M. Morris, Grace Vassallo, Gráinne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez‐Koref, Robert McFarland, Rita Horváth, Patrick F. Chinnery - JAMA 2014 被引用: 365

  10. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

    著者: Ingo Kurth, Torsten Pamminger, J. Christopher Hennings, Désirée Soehendra, Antje K. Huebner, Annelies Rotthier, Jonathan Baets, Jan Senderek, Haluk Topaloğlu, Sandra A. Farrell, Gudrun Nürnberg, Peter Nürnberg, Peter De Jonghe, Andreas Gal, Christoph Kaether, Vincent Timmerman, Christian A. Hübner - Nature Genetics 2009 被引用: 256

  11. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

    著者: Zaïda Koeks, Catherine L. Bladen, David Salgado, Erik W. van Zwet, Oksana Pogoryelova, Grace McMacken, Soledad Monges, María Eugenia Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, M. Bellgard, Anna J. Roy, Teodora Chamova, Velina Guergueltcheva, H.S. Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C. Walter, Olivia Schreiber‐Katz, Veronika Karcagi, Marta Garami, Ágnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, Alessandra Ferlini, En Kimura, J.C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Łusakowska, Anna Kostera‐Pruszczyk, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milić Rašić, Dina Vojinović, Manuel Posada de la Paz, Clemens Bloetzer, Andrea Klein, Jordi Díaz‐Manera, Eduard Gallardo, Aynur Ayşe Karaduman, Tunca Oznur, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy Shatillo, Ann Martin, Holly L. Peay, Janbernd Kirschner, Kevin M. Flanigan, Volker Straub, Kate Bushby, Christophe Béroud, Jan J.G.M. Verschuuren, Hanns Lochmüller - Journal of Neuromuscular Diseases 2017 被引用: 182

  12. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

    著者: Pascale Bomont, L Cavalier, F Blondeau, Christiane Ben Hamida, Samir Belal, Mériem Tazir, Ercan Demir, Haluk Topaloğlu, Rudolf Korinthenberg, Beyhan Tüysüz, P. Landrieu, Fayçal Hentati, Michel Koenig - Nature Genetics 2000 被引用: 413

  13. Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

    著者: Lucas T. Jae, Matthijs Raaben, Moniek Riemersma, Ellen van Beusekom, Vincent A. Blomen, Arno Velds, Ron Kerkhoven, Jan E. Carette, Haluk Topaloğlu, Peter Meinecke, Marja W. Wessels, Dirk J. Lefeber, Sean P. J. Whelan, Hans van Bokhoven, Thijn R. Brummelkamp - Science 2013 被引用: 282

  14. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

    著者: Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero, Signe Mosegaard, Veronika Boczonadi, Lavinija Mataković, Alice Veauville‐Merllié, Caterina Terrile, Thomas Schwarzmayr, Tobias B. Haack, Mari Auranen, Piero Leone, Michele Galluccio, Apolline Imbard, Purificacion Gutierrez-Ríos, Johan Palmfeldt, Elisabeth Graf, Christine Vianey‐Saban, Marcus Oppenheim, Manuel Schiff, Samia Pichard, Odile Rigal, Angela Pyle, Patrick F. Chinnery, Vassiliki Konstantopoulou, Dorothea Möslinger, René G. Feichtinger, Beril Talim, Haluk Topaloğlu, Turgay Coşkun, Şafak Güçer, Annalisa Botta, Elena Pegoraro, Adriana Malena, Lodovica Vergani, Daniela Mazzà, Marcella Zollino, Daniele Ghezzi, Cécile Acquaviva, Tiina Tyni, Avihu Boneh, Thomas Meitinger, Tim M. Strom, Niels Gregersen, Johannes A. Mayr, Rita Horváth, Maria Barile, Holger Prokisch - The American Journal of Human Genetics 2016 被引用: 149

  15. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

    著者: Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard, Martin Brockington, Susana Quijano Roy, Luciano Merlini, Norma B. Romero, B. Estournet, Isabelle Desguerre, Denys Chaigne, Francesco Muntoni, Haluk Topaloğlu, Pascale Guicheney - Nature Genetics 2001 被引用: 365

  16. Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

    著者: Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari, Emily J. Todd, Pauliina Vornanen, Kyle S. Yau, Yukiko Hayashi, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Hitoshi Osaka, Sumimasa Yamashita, Takashi Ohya, Yuko Sakamoto, Eriko Koshimizu, Shintaro Imamura, Michiaki Yamashita, Kazuhiro Ogata, Masaaki Shiina, Robert J. Bryson‐Richardson, Raquel Vaz, Ö. Ceyhan, Catherine A. Brownstein, Lindsay C. Swanson, Sophie Monnot, Norma B. Romero, Helge Amthor, Nina Kresoje, Padma Sivadorai, Cathy Kiraly‐Borri, Göknur Haliloğlu, Beril Talim, Diclehan Orhan, Gülsev Kale, Adrian Charles, Victoria A. Fabian, Mark R. Davis, Martin Lammens, Caroline A. Sewry, Adnan Manzur, Francesco Muntoni, Nigel F. Clarke, Kathryn N. North, Enrico Bertini, Yoram Nevo, E Willichowski, Inger Elisabeth Silberg, Haluk Topaloğlu, Alan H. Beggs, Richard J. N. Allcock, Ichizo Nishino, Carina Wallgren‐Pettersson, Naomichi Matsumoto, Nigel G. Laing - The American Journal of Human Genetics 2013 被引用: 224

  17. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

    著者: Onur Emre Onat, Süleyman Gülsüner, Kaya Bilgüvar, A. Nazlı Başak, Haluk Topaloğlu, Meli̇ha Tan, Üner Tan, Murat Günel, Tayfun Özçelık - European Journal of Human Genetics 2012 被引用: 137

  18. European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome

    著者: Pieter A. van Doorn, Peter Van den Bergh, Robert D. M. Hadden, Bert Avau, Patrik Vankrunkelsven, Shahram Attarian, Patricia H. Blomkwist‐Markens, David R. Cornblath, H. Stephan Goedee, Thomas Harbo, Bart C. Jacobs, Susumu Kusunoki, Helmar C. Lehmann, Richard A. Lewis, Michael P. Lunn, Eduardo Nobile‐Orazio, Luís Querol, Yusuf A. Rajabally, Thirugnanam Umapathi, Haluk Topaloğlu, Hugh J. Willison - European Journal of Neurology 2023 被引用: 194

  19. The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy

    著者: Rocío N. Villar‐Quiles, Maja von der Hagen, Corinne Métay, Victoria González, Sandra Donkervoort, Enrico Bertini, Claudia Castiglioni, Denys Chaigne, Jaume Colomer, María L. Cuadrado, Marianne de Visser, Isabelle Desguerre, B. Eymard, Nathalie Goemans, Angela M. Kaindl, Emmanuelle Lagrue, Jürg Lütschg, Edoardo Malfatti, M. Mayer, Luciano Merlini, David Orlikowski, Ulrike Reuner, Mustafa A. Salih, Beate Schlotter‐Weigel, Mechthild Stoetter, Volker Straub, Haluk Topaloğlu, J. Andoni Urtizberea, Anneke J. van der Kooi, Ekkehard Wilichowski, Norma B. Romero, Michel Fardeau, Carsten G. Bönnemann, B. Estournet, Pascale Richard, Susana Quijano‐Roy, Ulrike Schara, Ana Ferreiro - Neurology 2020 被引用: 73

  20. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

    著者: Klaus Gempel, Haluk Topaloğlu, Beril Talim, Peter Schneiderat, Benedikt Schoser, Volkmar Hans, Beatrix Pálmafy, Gülsev Kale, Ayşegül Tokatlı, Catarina M. Quinzii, Michio Hirano, Ali Naini, Salvatore DiMauro, Holger Prokisch, Hanns Lochmüller, Rita Horváth - Brain 2007 被引用: 319

  21. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

    著者: Claire Chauveau, Carsten G. Bönnemann, Cédric Julien, Ay Lin Kho, Harold G. Marks, Beril Talim, Philippe Maury, M. C. Arne-Bes, Emmanuelle Uro‐Coste, Alexander Alexandrovich, Anna Vihola, Sebastian Schäfer, Beat A. Kaufmann, Līvija Medne, Norbert Hübner, A. Reghan Foley, Mariarita Santi, Bjarne Udd, Haluk Topaloğlu, Steven A. Moore, Michael Gotthardt, Mark E. Samuels, Mathias Gautel, Ana Ferreiro - Human Molecular Genetics 2013 被引用: 191

  22. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

    著者: Katja Grohmann, Raymonda Varon, Piroschka Stolz, Markus Schuelke, Catrin Janetzki, Enrico Bertini, Kate Bushby, Francesco Muntoni, Robert Ouvrier, Lionel Van Maldergem, Nathalie Goemans, Hanns Lochmüller, S Eichholz, Coleen Adams, Friedrich Bosch, Padraic J. Grattan‐Smith, Carmen Navarro, Heidemarie Neitzel, Tilman Polster, Haluk Topaloğlu, Christina Steglich, Ulf P. Guenther, Klaus Zerres, Sabine Rudnik‐Schöneborn, Christoph Hübner - Annals of Neurology 2003 被引用: 172

  23. A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

    著者: Satomi Mitsuhashi, Aya Ohkuma, Beril Talim, Minako Karahashi, Tomoko Koumura, Chieko Aoyama, Mana Kurihara, Rosaline C. M. Quinlivan, Caroline A. Sewry, Hiroaki Mitsuhashi, Kanako Goto, Burcu Tahire Köksal, Gülsev Kale, Kazutaka Ikeda, Ryo Taguchi, S. Noguchi, Yukiko Hayashi, Ikuya Nonaka, Roger B. Sher, Hiroyuki Sugimoto, Yasuhito Nakagawa, Gregory A. Cox, Haluk Topaloğlu, Ichizo Nishino - The American Journal of Human Genetics 2011 被引用: 143

  24. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

    著者: Gina O’Grady, Heather Best, Tamar E. Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osório Lopes Abath Neto, R. Bryan Sutton, Biljana Ilkovski, Norma B. Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B. Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A. Ruparelia, Thierry Maisonobe, Anthony Peduto, Stephen Reddel, Monkol Lek, Taru Tukiainen, Beryl B. Cummings, Himanshu Joshi, Juliette Nectoux, Susan Brammah, Jean‐François Deleuze, Viola Oorschot Ing, Georg Ramm, Didem Ardıçlı, Kristen J. Nowak, Beril Talim, Haluk Topaloğlu, Nigel G. Laing, Kathryn N. North, Daniel G. MacArthur, Sylvie Friant, Nigel F. Clarke, Robert J. Bryson‐Richardson, Carsten G. Bönnemann, Jocelyn Laporte, Sandra T. Cooper - The American Journal of Human Genetics 2016 被引用: 106