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John W. Day

1984–2026 年に発表

別表記
John W Day
106
論文数
23,877
被引用数
74
h 指数
99
i10 指数

被引用数

John W. Day の年別被引用数1969 年: 被引用 1 件1986 年: 被引用 1 件1989 年: 被引用 1 件1990 年: 被引用 1 件1991 年: 被引用 2 件1992 年: 被引用 2 件1993 年: 被引用 3 件1995 年: 被引用 6 件1996 年: 被引用 2 件1997 年: 被引用 5 件1998 年: 被引用 10 件1999 年: 被引用 17 件2000 年: 被引用 53 件2001 年: 被引用 33 件2002 年: 被引用 43 件2003 年: 被引用 66 件2004 年: 被引用 84 件2005 年: 被引用 60 件2006 年: 被引用 98 件2007 年: 被引用 89 件2008 年: 被引用 65 件2009 年: 被引用 70 件2010 年: 被引用 105 件2011 年: 被引用 88 件2012 年: 被引用 98 件2013 年: 被引用 90 件2014 年: 被引用 103 件2015 年: 被引用 114 件2016 年: 被引用 82 件2017 年: 被引用 139 件2018 年: 被引用 184 件2019 年: 被引用 518 件2020 年: 被引用 606 件2021 年: 被引用 657 件2022 年: 被引用 586 件2023 年: 被引用 463 件2024 年: 被引用 801 件2025 年: 被引用 303 件2026 年: 被引用 14 件1970〜1985 年は被引用が無いため表示していません1987〜1988 年は被引用が無いため表示していません1994 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 1,936 件、この内訳の 28%イギリス: 引用元論文 629 件、この内訳の 9.1%イタリア: 引用元論文 479 件、この内訳の 6.9%ドイツ: 引用元論文 399 件、この内訳の 5.8%中国: 引用元論文 350 件、この内訳の 5.1%フランス: 引用元論文 346 件、この内訳の 5%カナダ: 引用元論文 290 件、この内訳の 4.2%オランダ: 引用元論文 255 件、この内訳の 3.7%オーストラリア: 引用元論文 219 件、この内訳の 3.2%スペイン: 引用元論文 197 件、この内訳の 2.8%日本: 引用元論文 187 件、この内訳の 2.7%ベルギー: 引用元論文 165 件、この内訳の 2.4%
0%28%その他 21.1%

機関

分野

  • Biochemistry, Genetics and Molecular Biology33.9%
  • Medicine31.3%
  • Neuroscience17.6%
  • Environmental Science10.5%
  • Earth and Planetary Sciences2.7%
  • Engineering1.1%
  • その他2.9%

トピック

  • Neurogenetic and Muscular Disorders Research9.4%
  • Muscle Physiology and Disorders7.8%
  • Genetic Neurodegenerative Diseases6.8%
  • RNA Research and Splicing4.1%
  • RNA modifications and cancer4%
  • Mitochondrial Function and Pathology3.3%
  • その他64.6%

共著者

全論文

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

    著者: Eugenio Mercuri, Basil T. Darras, Claudia A. Chiriboga, John W. Day, Craig Campbell, Anne M. Connolly, Susan T. Iannaccone, Janbernd Kirschner, Nancy L. Kuntz, Kayoko Saito, Perry B. Shieh, M. Tulinius, Elena Mazzone, Jacqueline Montes, Kathie M. Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C. Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C. De Vivo, Richard S. Finkel - New England Journal of Medicine 2018 被引用: 1,424

  2. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

    著者: John W Day, Richard S. Finkel, Claudia A. Chiriboga, Anne M. Connolly, Thomas O. Crawford, Basil T. Darras, Susan T. Iannaccone, Nancy L. Kuntz, Loren D.M. Peña, Perry B. Shieh, Edward C. Smith, Jennifer M. Kwon, Craig M. Zaidman, Meredith Schultz, Douglas E. Feltner, Sitra Tauscher‐Wisniewski, Haojun Ouyang, Deepa H. Chand, Douglas M. Sproule, Thomas A. Macek, Jerry R. Mendell - The Lancet Neurology 2021 被引用: 480

  3. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

    著者: Richard S. Finkel, Claudia A. Chiriboga, Jiri Vajsar, John W Day, Jacqueline Montes, Darryl C. De Vivo, Mason Yamashita, Frank Rigo, Gene Hung, Eugene Schneider, Daniel A Norris, Shuting Xia, C. Frank Bennett, Kathie M. Bishop - The Lancet 2016 被引用: 1,016

  4. Risdiplam in Type 1 Spinal Muscular Atrophy

    著者: Giovanni Baranello, Basil T. Darras, John W. Day, Nicolas Deconinck, Andrea Klein, Riccardo Masson, Eugenio Mercuri, Kristy Rose, Muna El-Khairi, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, R. Scalco, Timothy J. Seabrook, Paulo Fontoura, Laurent Servais - New England Journal of Medicine 2021 被引用: 419

  5. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

    著者: Craig M. McDonald, Erik Henricson, Richard T. Abresch, Tina Duong, Nanette C. Joyce, Fengming Hu, Paula R. Clemens, Eric P. Hoffman, Avital Cnaan, Heather Gordish‐Dressman, Vijay Vishwanathan, S. Chidambaranathan, W. Douglas Biggar, Laura McAdam, Jean K. Mah, M. Tulinius, Avital Cnaan, Lauren P. Morgenroth, Robert T. Leshner, Carolina Tesi Rocha, Mathula Thangarajh, Tina Duong, Andrew J. Kornberg, Monique M. Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R. Clemens, Hoda Abdel‐Hamid, Anne M. Connolly, Alan Pestronk, Jean Teasley, Tulio E. Bertorin, Richard Webster, Hanna Kolski, Nancy L. Kuntz, Sherilyn W. Driscoll, John B. Bodensteiner, Jose Carlo, Ksenija Gorni, Timothy Lotze, John W. Day, Peter Karachunski, Erik Henricson, Richard T. Abresch, Nanette C. Joyce, Craig M. McDonald - The Lancet 2017 被引用: 475

  6. Revised upper limb module for spinal muscular atrophy: Development of a new module

    著者: Elena Mazzone, Anna Mayhew, Jacqueline Montes, Danielle Ramsey, Lavinia Fanelli, Sally Dunaway Young, Rachel Salazar, Roberto De Sanctis, Amy Pasternak, Allan M. Glanzman, Giorgia Coratti, Matthew Civitello, Nicola Forcina, Richard Gee, Tina Duong, Marika Pane, Mariacristina Scoto, Maria Carmela Pera, Sonia Messina, Gihan Tennekoon, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard S. Finkel, Francesco Muntoni, Eugenio Mercuri - Muscle & Nerve 2016 被引用: 362

  7. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

    著者: Eugenio Mercuri, Nicolas Deconinck, Elena Mazzone, A. Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug‐Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera‐Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, R. Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline C. M. Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, O. Schneider, Nicolas Deconinck, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Nathalie Goemans, Ingele Casteels, Liesbeth De Waele, Irina Balikova, Cathérine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, M. van den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araújo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Júlia Dutra Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy L. McDonald, Cheryl Scholtes, Jean K. Mah, Maria Sframeli, Angela W. Chiu, Jane Hagel, Maryam Oskoui, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stéphanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Qian Chen, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jing Wen, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barišić, Martina Galiot Delić, Petra Kristina Ivkić, Nenad Vukojević, Ivana Kern, B Najdanović, Marin Skugor ほか 237 名 - The Lancet Neurology 2021 被引用: 214

  8. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

    著者: Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, António Toscano, Ans T. van der Ploeg, Kenneth I. Berger, Paula R. Clemens, Yin‐Hsiu Chien, John W Day, С. Н. Иллариошкин, Mark Roberts, Shahram Attarian, João Borges, Francoise Bouhour, Young‐Chul Choi, Sevim Erdem‐Özdamar, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Kristina An Haack, Christopher Hug, Olivier Huynh‐Ba, Judith Johnson, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser, Anthony Béhin, Matthias Boentert, Gérson Carvalho, Nizar Chahin, Joel Charrow, Patrick Deegan, Hacer Durmuş Tekçe, Fanny Duval, Angela Genge, Ludwig Gutmann, Robert D. Henderson, Julia B. Hennermann, Tarekegn Hiwot, Derralynn Hughes, Amel Karaa, Chafic Karam, Alexandra Kautzky‐Willer, Hirofumi Komaki, Pascal Laforêt, Nicola Longo, Vĕra Malinová, Ricardo Maré, Clarisa Maxit, Eugen Mengel, Maurizio Moggio, Mária Judit Molnár, Tiziana Mongini, Aleksandra Nadaj‐Pakleza, A. Nascimento Osorio, Jean‐Baptiste Noury, Acary Souza Bullé Oliveira, Yeşim Parman, Loren Peña, Gauthier Remiche, Monica Sciacco, Perry B. Shieh, Cheryl J. Smith, Thomas M. Stulnig, Frédéric Taithe, Céline Tard, Mark A. Tarnopolsky, Matthias Vorgerd, Chester B. Whitley, Peter Young, Jorge Alonso‐Pérez, Patricia Altemus, Anne-Catherine Aubé-Nathier, Jennifer Avelar, Carrie Bailey, Can Ebru Bekircan‐Kurt, Jenny Billy, Silvia Boschi, Kathryn E. Brown, Laura Carrera‐García, Lauren Chase, Hamilton Cirne, Loïc Danjoux, Jean‐Baptiste Davion, Stephanie DeArmey, E. Yu. Fedotova, Eve Gandolfo, Zoltán Grosz, Dewi Guellec, Anne-Katrin Guettsches, Michela Guglieri, Erin Hatcher, Sina Helms, Miriam Hufgard‐Leitner, S. A. Klyushnikov, Jacqui Langton, Lenka Linková ほか 35 名 - The Lancet Neurology 2021 被引用: 184

  9. Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study

    著者: Richard S. Finkel, Claudia A. Chiriboga, Jiri Vajsar, John W Day, Jacqueline Montes, Darryl C. De Vivo, Kathie M. Bishop, Richard Foster, Yingying Liu, Daniela Ramirez‐Schrempp, Eugene Schneider, C. Frank Bennett, Janice Wong, Wildon Farwell - The Lancet Child & Adolescent Health 2021 被引用: 104

  10. A review of emerging organic contaminants (EOCs), antibiotic resistant bacteria (ARB), and antibiotic resistance genes (ARGs) in the environment: Increasing removal with wetlands and reducing environmental impacts

    著者: Joan Garcı́a, María Jesús García-Galán, John W. Day, Raj Boopathy, John R. White, Scott Wallace, Rachael G. Hunter - Bioresource Technology 2020 被引用: 394

  11. Advances and limitations for the treatment of spinal muscular atrophy

    著者: John W. Day, Kelly Howell, Amy Place, Kimberly Long, José Rosselló, Nathalie Kertesz, George G. Nomikos - BMC Pediatrics 2022 被引用: 123

  12. Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy

    著者: John W. Day, Jerry R. Mendell, Eugenio Mercuri, Richard S. Finkel, Kevin A. Strauss, A. de Kleyn, Sitra Tauscher‐Wisniewski, F Tukov, Sandra P. Reyna, Deepa H. Chand - Drug Safety 2021 被引用: 119

  13. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

    著者: Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, Laurent Servais, Hui Xiong, Edmar Zanoteli, Giovanni Baranello, Claudio Bruno, John W Day, Nicolas Deconinck, Andrea Klein, Eugenio Mercuri, D. Vlodavets, Yi Wang, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Birgit Jaber, Heidemarie Kletzl, Εleni Gaki, Paulo Fontoura, Basil T. Darras, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline C. M. Quinlivan, Marianne Gerber, Omar Khwaja, R. Scalco, Timothy J. Seabrook, Armin Koch, Irina Balikova, Inge Joniau, Geraldine Accou, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Rodrigo de Holanda Mendonça, Ciro Matsui, Ana Letícia Fornazieri Darcie, Cleide Machado, Maria Kiyoko Oyamada, Joyce Martini, Graziela Jorge Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Chaoping Hu, Xiaomei Zhu, Qian Chen, Li Shen, Hui Li, Yiyun Shi, Shuizhen Zhou, Ying Xiao, Zhenxuan Zhou, Sujuan Wang, Tian Sang, Cuijie Wei, Hui Dong, Yiwen Cao, Jing Wen, Wenzhu Li, Lun Qin, Nina Barišić, Ivan Celovec, Martina Galiot Delić, Petra Kristina Ivkić, Nenad Vukojević, Ivana Kern, B Najdanović, Marin Skugor, Josipa Tomas, Odile Boespflug‐Tanguy, Silvana De Lucia, Andrea Seferian, Emmanuel Barreau, Nabila Mnafek, Helene Peche, Allison Grange, Diem Trang Nguyen, Darko Milaščević, Shotaro Tachibana, Emanuela Pagliano, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, M. E. F Viganó, Claudia Dosi, Riccardo Zanin, Veronica Schembri, Noemi Brolatti, Giuseppe Rao, Elisa Tassara, Simone Morando, Paola Tacchetti, Marina Pedemonte, Enrico Priolo, Lorenza Sposetti ほか 72 名 - The Lancet Neurology 2022 被引用: 104

  14. Revised upper limb module for spinal muscular atrophy: 12 month changes

    著者: Maria Carmela Pera, Giorgia Coratti, Elena Mazzone, Jacqueline Montes, Mariacristina Scoto, Roberto De Sanctis, Marion Main, Anna Mayhew, R. Muni Lofra, Sally Dunaway Young, Allan M. Glanzman, Tina Duong, Amy Pasternak, Danielle Ramsey, Basil T. Darras, John W. Day, Richard S. Finkel, Darryl C. De Vivo, Maria Pia Sormani, Francesca Bovis, Volker Straub, Francesco Muntoni, Marika Pane, Eugenio Mercuri - Muscle & Nerve 2019 被引用: 150

  15. Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)

    著者: Richard S. Finkel, Basil T. Darras, Jerry R. Mendell, John W. Day, Nancy L. Kuntz, Anne M. Connolly, Craig M. Zaidman, Thomas O. Crawford, Russell J. Butterfield, Perry B. Shieh, Gihan Tennekoon, John F. Brandsema, Susan T. Iannaccone, John M. Shoffner, Sarah Kavanagh, Thomas A. Macek, Sitra Tauscher‐Wisniewski - Journal of Neuromuscular Diseases 2023 被引用: 63

  16. Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

    著者: Laurent Servais, John W. Day, Darryl C. De Vivo, Janbernd Kirschner, Eugenio Mercuri, Francesco Muntoni, Crystal M. Proud, Perry B. Shieh, Eduardo F. Tizzano, Susana Quijano‐Roy, Isabelle Desguerre, Kayoko Saito, Eric Faulkner, K. Benguerba, Dheeraj Raju, Nicole LaMarca, Rui Sun, Frederick A. Anderson, Richard S. Finkel - Journal of Neuromuscular Diseases 2024 被引用: 65

  17. Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

    著者: Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault-Carpentier, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John W. Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, François Deryckère, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Émilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang‐Yung Lee, Maurice S. Swanson, Adolfo López de Munaín, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric T. Wang, Thomas Zimmer, Denis Furling, Masanori Takahashi, Nicolas Charlet‐Berguerand - Nature Communications 2016 被引用: 207

  18. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

    著者: Jacqueline Glascock, Jacinda B. Sampson, Anne M. Connolly, Basil T. Darras, John W. Day, Richard S. Finkel, R. Rodney Howell, K. Klinger, Nancy L. Kuntz, Thomas W. Prior, Perry B. Shieh, Thomas O. Crawford, Douglas A. Kerr, Jill Jarecki - Journal of Neuromuscular Diseases 2020 被引用: 137

  19. Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

    著者: Christina L. Liquori, K. Ricker, Melinda L. Moseley, Jennifer F. Jacobsen, Wolfram Kreß, Susan L. Naylor, John W. Day, Laura P.W. Ranum - Science 2001 被引用: 1,233

  20. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

    著者: Menelaos Pipis, Shawna Feely, James M. Polke, Mariola Skorupinska, Laura Pérez, Rosemary Shy, Matilde Laurá, Jasper M. Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujović, Thomas E. Lloyd, Gyula Acsádi, Sabrina W Yum, Richard A. Lewis, Richard S. Finkel, David N. Herrmann, John W Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horváth, Nicholas E. Johnson, Stephan Züchner, Davide Pareyson, Steven S. Scherer, Alexander M. Rossor, Michael E. Shy, Mary M. Reilly, Silvia Baratta, Paula Bray, Daniela Calabrese, Kayla Cornett, Gabrielle Donlevy, Katy Eichinger, Maria Foscan, S. Genitrini, Natalie Grant, Tara Jones, Diana Lee, Brett A. McCray, Stefania Magri, Manoj P. Menezes, Krista Mullen, Tina Nanji, Sara Nuzzo, Emanuela Pagliano, Roy Poh, Eun Hye Park, Sadaf Saba, Paola Saveri, Carly E. Siskind, Janet E. Sowden, Charlotte J. Sumner, Simone Thomas - Brain 2020 被引用: 92

  21. Nusinersen Treatment in Adults With Spinal Muscular Atrophy

    著者: Tina Duong, Connie Wolford, Michael McDermott, Chelsea E. Macpherson, Amy Pasternak, Allan M. Glanzman, William B. Martens, Elizabeth Kichula, Basil T. Darras, Darryl C. De Vivo, Zarazuela Zolkipli‐Cunningham, Richard S. Finkel, Michael Zeineh, Max Wintermark, Jacinda B. Sampson, Katharine A. Hagerman, Sally Dunaway Young, John W. Day - Neurology Clinical Practice 2021 被引用: 76

  22. Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks

    著者: Priya S. Kishnani, Jordi Díaz‐Manera, António Toscano, Paula R. Clemens, Shafeeq Ladha, Kenneth I. Berger, Hani Kushlaf, Volker Straub, Gérson Carvalho, Tahseen Mozaffar, Mark Roberts, Shahram Attarian, Yin‐Hsiu Chien, Young‐Chul Choi, John W. Day, Sevim Erdem‐Özdamar, С. Н. Иллариошкин, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Ans T. van der Ploeg, Kristina An Haack, Olivier Huynh‐Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser, COMET Investigator Group, Anthony Béhin, Matthias Boentert, Gérson Carvalho, Nizar Chahin, Joel Charrow, Patrick Deegan, Hacer Durmuş Tekçe, Fanny Duval, Angela Genge, Ludwig Gutmann, Robert D. Henderson, Julia B. Hennermann, Tarekegn Hiwot, Derralynn Hughes, Amel Karaa, Chafic Karam, Alexandra Kautzky‐Willer, Hirofumi Komaki, Pascal Laforêt, Nicola Longo, Vĕra Malinová, Ricardo Maré, Clarisa Maxit, Eugen Mengel, Maurizio Moggio, Mária Judit Molnár, Tiziana Mongini, Aleksandra Nadaj‐Pakleza, A. Nascimento Osorio, Jean‐Baptiste Noury, Acary Souza Bullé Oliveira, Yeşim Parman, Loren Peña, Gauthier Remiche, Monica Sciacco, Perry B. Shieh, Cheryl J. Smith, Thomas M. Stulnig, Frédéric Taithe, Céline Tard, Mark A. Tarnopolsky, Matthias Vorgerd, Chester B. Whitley, Peter Young, Jorge Alonso‐Pérez, Patricia Altemus, Anne-Catherine Aubé-Nathier, Jennifer Avelar, Carrie Bailey, Can Ebru Bekircan‐Kurt, Jenny Billy, Silvia Boschi, Kathryn E. Brown, Laura Carrera‐García, Lauren Chase, Hamilton Cirne, Loïc Danjoux, Jean‐Baptiste Davion, Stephanie DeArmey, E. Yu. Fedotova, Eve Gandolfo, Zoltán Grosz, Dewi Guellec, Anne-Katrin Guettsches, Michela Guglieri, Erin Hatcher, Sina Helms, Miriam Hufgard‐Leitner, S. A. Klyushnikov, Jacqui Langton, Lenka Linková, Nicolas Mavroudakis ほか 34 名 - JAMA Neurology 2023 被引用: 55

  23. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

    著者: Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Eduard Gappmaier, Michael Howard, Jacinda B. Sampson, Jerry R. Mendell, Cheryl Wall, Wendy King, Alan Pestronk, Julaine Florence, Anne M. Connolly, Katherine D. Mathews, Carrie Stephan, Karla S. Laubenthal, Brenda Wong, P. Morehart, Amy Meyer, Richard S. Finkel, Carsten G. Bönnemann, Līvija Medne, John W. Day, Joline Dalton, Marcia K. Margolis, Veronica J. Hinton, Robert B. Weiss - Human Mutation 2009 被引用: 314

  24. Ambulatory function in spinal muscular atrophy: Age-related patterns of progression

    著者: Jacqueline Montes, Michael McDermott, Elizabeth Mirek, Elena Mazzone, Marion Main, Allan M. Glanzman, Tina Duong, Sally Dunaway Young, Rachel Salazar, Amy Pasternak, Richard Gee, Roberto De Sanctis, Giorgia Coratti, Nicola Forcina, Lavinia Fanelli, Danielle Ramsey, Evelin Milev, Matthew Civitello, Marika Pane, Maria Carmela Pera, Mariacristina Scoto, John W. Day, Gihan Tennekoon, Richard S. Finkel, Basil T. Darras, Francesco Muntoni, Darryl C. De Vivo, Eugenio Mercuri - PLoS ONE 2018 被引用: 124