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John W. Day

Active 1984–2026

Also published as
John W Day
106
Papers
23,877
Citations
74
h-index
99
i10-index

Citations

Citations per year for John W. Day1969: 1 citations1986: 1 citations1989: 1 citations1990: 1 citations1991: 2 citations1992: 2 citations1993: 3 citations1995: 6 citations1996: 2 citations1997: 5 citations1998: 10 citations1999: 17 citations2000: 53 citations2001: 33 citations2002: 43 citations2003: 66 citations2004: 84 citations2005: 60 citations2006: 98 citations2007: 89 citations2008: 65 citations2009: 70 citations2010: 105 citations2011: 88 citations2012: 98 citations2013: 90 citations2014: 103 citations2015: 114 citations2016: 82 citations2017: 139 citations2018: 184 citations2019: 518 citations2020: 606 citations2021: 657 citations2022: 586 citations2023: 463 citations2024: 801 citations2025: 303 citations2026: 14 citations1970–1985: no citations, so these years are not shown1987–1988: no citations, so these years are not shown1994: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 1,936 citing papers, 28% of this breakdownUnited Kingdom: 629 citing papers, 9.1% of this breakdownItaly: 479 citing papers, 6.9% of this breakdownGermany: 399 citing papers, 5.8% of this breakdownChina: 350 citing papers, 5.1% of this breakdownFrance: 346 citing papers, 5% of this breakdownCanada: 290 citing papers, 4.2% of this breakdownNetherlands: 255 citing papers, 3.7% of this breakdownAustralia: 219 citing papers, 3.2% of this breakdownSpain: 197 citing papers, 2.8% of this breakdownJapan: 187 citing papers, 2.7% of this breakdownBelgium: 165 citing papers, 2.4% of this breakdown
0%28%Other 21.1%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology33.9%
  • Medicine31.3%
  • Neuroscience17.6%
  • Environmental Science10.5%
  • Earth and Planetary Sciences2.7%
  • Engineering1.1%
  • Other2.9%

Topics

  • 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%
  • Other64.6%

Coauthors

All papers

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  1. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

    Authors: 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 cited by 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

    Authors: 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 cited by 480

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

    Authors: 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 cited by 1,016

  4. Risdiplam in Type 1 Spinal Muscular Atrophy

    Authors: 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 cited by 419

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

    Authors: 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 cited by 475

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

    Authors: 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 cited by 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

    Authors: 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 and 237 more - The Lancet Neurology 2021 cited by 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

    Authors: 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 and 35 more - The Lancet Neurology 2021 cited by 184

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

    Authors: 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 cited by 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

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

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

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

  12. Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy

    Authors: 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 cited by 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

    Authors: 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 and 72 more - The Lancet Neurology 2022 cited by 104

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

    Authors: 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 cited by 150

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

    Authors: 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 cited by 63

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

    Authors: 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 cited by 65

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

    Authors: 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 cited by 207

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

    Authors: 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 cited by 137

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

    Authors: 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 cited by 1,233

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

    Authors: 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 cited by 92

  21. Nusinersen Treatment in Adults With Spinal Muscular Atrophy

    Authors: 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 cited by 76

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

    Authors: 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 and 34 more - JAMA Neurology 2023 cited by 55

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

    Authors: 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 cited by 314

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

    Authors: 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 cited by 124