Volker Straub
Active 1988–2025
- 234
- Papers
- 27,817
- Citations
- 99
- h-index
- 217
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Biochemistry, Genetics and Molecular Biology65.6%
- Medicine25.5%
- Neuroscience4.3%
- Nursing1%
- Computer Science0.7%
- Immunology and Microbiology0.5%
- Other2.4%
Topics
- Muscle Physiology and Disorders14.4%
- Neurogenetic and Muscular Disorders Research4.8%
- Cardiomyopathy and Myosin Studies4.7%
- Genetic Neurodegenerative Diseases3.3%
- RNA Research and Splicing2.4%
- Genomics and Rare Diseases2.3%
- Other68.1%
Coauthors
- Francesco Muntoni55
- Kate Bushby47
- Michela Guglieri45
- Ana Töpf35
- Hanns Lochmüller35
- Eugenio Mercuri26
- Jordi Díaz‐Manera25
- Michelle Eagle23
- Anna Mayhew22
- Thomas Voit20
- Rita Barresi17
- John Vissing16
- K. Bushby16
- M. James15
- Maggie C. Walter15
- Pierre G. Carlier15
- Benedikt Schoser14
- Caroline A. Sewry14
- Heinz Jungbluth14
- E. Niks13
- Giorgio Tasca13
- Sandra Donkervoort13
- Laurent Servais12
- Tanya Stojkovic12
All papers
- The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Authors: 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 cited by 744
- Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
Authors: Eugenio Mercuri, Francesco Muntoni, Giovanni Baranello, Riccardo Masson, Odile Boespflug‐Tanguy, Claudio Bruno, Stefania Corti, Aurore Daron, Nicolas Deconinck, Laurent Servais, Volker Straub, Haojun Ouyang, Deepa H. Chand, Sitra Tauscher‐Wisniewski, Nuno Mendonça, Arseniy Lavrov, Andrea Seferian, S. De Lucia, Shotaro Tachibana, A. Jollet, S. Mouffak, Marina Pedemonte, Noemi Brolatti, Simone Morando, Arnaud Vanlander, Elke De Vos, Valentine Tahon, Alessandra Govoni, Francesca Magri, Giacomo P. Comi, Michaela Foà, Valeria Parente, L. Buscemi, Fabian Dal Farra, Olga Schneider, Anovick Jonas, A.C. Defeldre, Emanuela Pagliano, Riccardo Zanin, Maria Teresa Arnoldi, Veronica Schembri, M. Del Sole, Anna Mandelli, Maria Carmela Pera, Laura Antonaci, Giorgia Coratti, Rita De Sanctis, Marika Pane, Mariacristina Scoto, Katie Groves, Lisa Edel, François Abel, H. van Ruiten, R. Muni Lofra, E. T. Thompson - The Lancet Neurology 2021 cited by 256
- Global synergistic actions to improve brain health for human development
Authors: Mayowa Owolabi, Matilde Leonardi, Claudio L. Bassetti, Joke Jaarsma, Tadeusz Hawrot, Akintomiwa Makanjuola, Rajinder K. Dhamija, Wuwei Feng, Volker Straub, Jennifer Camaradou, David W. Dodick, Rosita Sunna, Bindu Menon, Claire Wright, Chris Lynch, Antonella Santuccione Chadha, Maria Teresa Ferretti, Anna Dé, Coriene E. Catsman‐Berrevoets, Muthoni Gichu, Cristina Tassorelli, David Oliver, Walter Paulus, Ramla K. Mohammed, Augustina Charway‐Felli, Kevin Rostásy, Valery L. Feigin, Audrey Craven, Elizabeth Cunningham, Orla Galvin, Alexandra Heumber Perry, Ericka L. Fink, Peer Baneke, Anne Helme, Joanna Laurson-Doube, Marco T. Medina, Juan David Roa, Birgit Högl, Allan O’Bryan, Claudia Trenkwalder, Jo M. Wilmshurst, Rufus Akinyemi, Joseph Yaria, David C. Good, Volker Hoemberg, Paul Boon, Samuel Wiebe, J. Helen Cross, Magali Haas, Inez Jabalpurwala, Marijeta Mojasevic, Mónica Di Luca, Paola Barbarino, Stéphanie Clarke, Sameer M. Zuberi, Paul Olowoyo, Ayomide Owolabi, Nelson M. Oyesiku, Pia C. Sundgren, Bo Norrving, Surjo R. Soekadar, Pieter A. van Doorn, Richard Lewis, Tom Solomon, Franco Servadei - Nature Reviews Neurology 2023 cited by 113
- Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
Authors: Diane E. Frank, Frederick J. Schnell, Cody Akana, Saleh El-Husayni, Cody A. Desjardins, Jennifer E. Morgan, Jay S. Charleston, Valentina Sardone, Joana Domingos, George Dickson, Volker Straub, Michela Guglieri, Eugenio Mercuri, Laurent Servais, Francesco Muntoni, on behalf of the SKIP-NMD Study Group - Neurology 2020 cited by 325
- The Human Phenotype Ontology in 2017
Authors: Sebastian Köhler, Nicole A. Vasilevsky, Mark Engelstad, Erin Foster, Julie A. McMurry, Ségolène Aymé, Gareth Baynam, Susan M. Bello, Cornelius F. Boerkoel, Kym M. Boycott, Michael Brudno, Orion J. Buske, Patrick F. Chinnery, Valentina Cipriani, Laureen E. Connell, Hugh J. S. Dawkins, Laura E. DeMare, Andrew Devereau, Bert B. A. de Vries, Helen V. Firth, Kathleen Freson, Daniel Greene, Ada Hamosh, Ingo Helbig, Courtney Hum, Johanna Jähn, Roger James, Roland Krause, Stanley J. F. Laulederkind, Hanns Lochmüller, Gholson J. Lyon, Soichi Ogishima, Annie Olry, Willem H. Ouwehand, Nikolas Pontikos, Ana Rath, Franz Schaefer, Richard H. Scott, Michael Segal, Panagiotis I. Sergouniotis, Richard Sever, Cynthia L. Smith, Volker Straub, Rachel Thompson, Catherine Turner, Ernest Turro, Marijcke W. M. Veltman, Tom Vulliamy, Jing Yu, Julie von Ziegenweidt, Andreas Zankl, Stephan Züchner, Tomasz Zemojtel, Julius O. B. Jacobsen, Tudor Groza, Damian Smedley, Christopher J. Mungall, Melissa A. Haendel, Peter N. Robinson - Nucleic Acids Research, Nucleic Acids Res. 2016 cited by 801
- Genome Sequencing for Diagnosing Rare Diseases
Authors: Monica H. Wojcik, Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win, Susan M. White, Ben Weisburd, Dagmar Wieczorek, Leigh B. Waddell, Jeffrey M. Verboon, Grace E. VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L. Stenton, Hana Snow, Moriel Singer‐Berk, Josh Silver, Shirlee Shril, Eleanor G. Seaby, Ronen Schneider, Vijay G. Sankaran, Alba Sanchis-Juan, Kathryn A. Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A. Pierce, Emily Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei‐Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O’Leary, Emily O’Heir, Chantal F. Morel, Andreas Merkenschlager, Rhett G. Marchant, Brian Mangilog, Jill A. Madden, Daniel G. MacArthur, Alysia Kern Lovgren, Jordan Lerner‐Ellis, Jasmine Lin, Nigel G. Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia K. Goodrich, Joseph G. Gleeson, Roula Ghaoui, Casie A. Genetti, Janina Gburek‐Augustat, Hanna T. Gazda, Vijay Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T. Cooper, Wendy K. Chung, John Christodoulou, Katherine R. Chao, Liam D. Cato, Kinga M. Bujakowska, Samantha J. Bryen, Harrison Brand, Carsten G. Bönnemann, Alan H. Beggs, Samantha Baxter, Tobias Bartolomaeus, Pankaj B. Agrawal, Michael E. Talkowski, Christina Austin‐Tse, Rami Abou Jamra, Heidi L. Rehm, Anne O’Donnell‐Luria - New England Journal of Medicine 2024 cited by 184
- Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy
Authors: Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlová, Volker Straub, L. Mengle-Gaw, Benjamin D. Schwartz, Amy D. Harper, Perry B. Shieh, Liesbeth De Waele, Diana Castro, Michelle Yang, Monique M. Ryan, Craig M. McDonald, M. Tulinius, Richard Webster, Hugh J. McMillan, Nancy L. Kuntz, Vashmi K. Rao, Giovanni Baranello, Stefan Spinty, Anne‐Marie Childs, Annie M. Sbrocchi, Kathryn Selby, Migvis Monduy, Yoram Nevo, Juan J. Vílchez, Andres Nascimento-Osorio, E. Niks, Imelda J. M. de Groot, Marina Katsalouli, M. James, Johannes van den Anker, Jesse M. Damsker, Alexandra Ahmet, Leanne M. Ward, Mark Jaros, Phil Shale, Utkarsh J. Dang, Eric P. Hoffman - JAMA Neurology 2022 cited by 130
- 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
- Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
Authors: Payam Mohassel, Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta, A. Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R. Nickolls, Naemeh Pourshafie, Sarah Neuhaus, Dimah Saade, Andrea Gangfuß, Heike Kölbel, Zoe Piccus, Claire E. Le Pichon, Chiara Fiorillo, Cindy V. Ly, Ana Töpf, Lauren Brady, Sabine Specht, Aliza Zidell, Hélio Pedro, Eric Mittelmann, Florian P. Thomas, Katherine R. Chao, Chamindra G. Konersman, Megan T. Cho, Tracy Brandt, Volker Straub, Anne M. Connolly, Ulrike Schara, Andreas Roos, Mark A. Tarnopolsky, Ahmet Höke, Robert H. Brown, Chia‐Hsueh Lee, Thorsten Hornemann, Teresa Dunn, Carsten G. Bönnemann - Nature Medicine 2021 cited by 152
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Authors: Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A.C. ’t Hoen, Antonio Vitobello, Julia M. Schulze‐Hentrich, Olaf Rieß, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloès, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris A. Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltrán, Holm Graeßner, T. Haack, Birte Zurek, Kornelia Ellwanger, German Demidov, Marc Sturm, Christoph Keßler, Melanie Wayand, Carlo Wilke, Andreas Traschütz, Lüdger Schöls, Holger Hengel, Peter Heutink, Han G. Brunner, Hans Scheffer, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldız, Tjitske Kleefstra, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Volker Straub, C. Marini Bettolo, Sabine Specht, Jill Clayton‐Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltrán, Marta Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvò, Carles García, Marcos Fernandez-Callejo, Carles Hernandéz-Ferrer, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros‐Facer, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem and 123 more - European Journal of Human Genetics 2021 cited by 103
- Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy
Authors: Michela Guglieri, Kate Bushby, Michael McDermott, P. Morehart, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Chris Speed, Jennifer Wilkinson, Janbernd Kirschner, Wendy King, Michelle Eagle, Mary W. Brown, Tracey Willis, Robert C. Griggs, FOR-DMD Investigators of the Muscle Study Group, Volker Straub, Henriette van Ruiten, Anne‐Marie Childs, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Lorenzo Maggi, Giovanni Baranello, Russell J. Butterfield, Iain Horrocks, Helen Roper, Z. Alhaswani, Kevin M. Flanigan, Nancy L. Kuntz, Adnan Manzur, Basil T. Darras, Peter B. Kang, Leslie Morrison, Monika Krzesniak‐Swinarska, Jean K. Mah, Tiziana Mongini, Federica Ricci, Maja von der Hagen, Richard S. Finkel, Kathleen O’Reardon, Matthew Wicklund, Ashutosh Kumar, Craig M. McDonald, Jay J. Han, Nanette C. Joyce, Erik Henricson, Ulrike Schara‐Schmidt, Andrea Gangfuß, Ekkehard Wilichowski, Richard J. Barohn, Jeffrey Statland, Craig Campbell, Giuseppe Vita, Gian Luca Vita, James F. Howard, Imelda Hughes, Hugh J. McMillan, Elena Pegoraro, Luca Bello, W. Bryan Burnette, Mathula Thangarajh, Taeun Chang - JAMA 2022 cited by 123
- Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial
Authors: Laurent Servais, Eugenio Mercuri, Volker Straub, Michela Guglieri, Andreea Seferian, Mariacristina Scoto, Daniela Leone, E. Koenig, Navid Khan, A. Dugar, Xiaodong Wang, Baoguang Han, Dan Wang, Francesco Muntoni, on behalf of the SKIP-NMD Study Group, Chiara Brusa, Laura Antonaci, Claudia Brogna, Laura Merli, Mauro Monforte, Giulia Norcia, Marika Pane, Gloria Ferrantini, George Dickson, Jennifer E. Morgan, Valentina Sardone, Cody Akana, Jay S. Charleston, Cody A. Desjardins, Saleh El-Husayni, Diane E. Frank, Frederick J. Schnell - Nucleic Acid Therapeutics 2021 cited by 126
- Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy
Authors: Jean K. Mah, Paula R. Clemens, Michela Guglieri, Edward C. Smith, Richard S. Finkel, M. Tulinius, Yoram Nevo, Monique M. Ryan, Richard Webster, Diana Castro, Nancy L. Kuntz, Craig M. McDonald, Jesse M. Damsker, Benjamin D. Schwartz, L. Mengle-Gaw, Stefan A. Jackowski, Georgia Stimpson, Deborah Ridout, Vandana Ayyar Gupta, Giovanni Baranello, Adnan Y. Manzur, Francesco Muntoni, Heather Gordish‐Dressman, Mika Leinonen, Leanne M. Ward, Eric P. Hoffman, Utkarsh J. Dang, NorthStar UK Network and CINRG DNHS Investigators, Francesco Muntoni, Adnan Manzur, Giovanni Baranello, S. Robb, Rosaline C. M. Quinlivan, Anna Sárközy, Pinki Munot, Marion Main, Lianne Abbot, Volker Straub, Michela Guglieri, Chiara Bertolli, Anna Mayhew, Robert Muni‐Lofra, M. James, Jassi Sodhi, Deepak Parasuraman, Z. Alhaswani, Heather McMurchie, Rosanna Rabb, Anne‐Marie Childs, Karen Pysden, Lindsey Pallant, Tiffany Small, Stefan Spinty, R Madhu, Alison Shillington, Sarah Gregson, Elizabeth Wraige, Heinz Jungbluth, Vasantha Gowda, Jennie Sheehan, Imelda Hughes, Sinead Warner, Emily Davies, Tracey Willis, R. Kulshrestha, N. Emery, Kate Strachan, Min Ong, Kay White, Kate Skone, Frances Gibbon, Bethan Parsons, Anirban Majumdar, Kayal Vijaykumar, Faye Mason, Claire Frimpong-Ansah, Karen Naismith, Julie Burslem, Iain Horrocks, Marina Di Marco, Sarah M. Brown, Sarah Williamson, Kirstie Spencer, Gabby Chow, Christian de Goede, Andrea Selley, Neil Thomas, Marjorie Illingworth, Michelle Greary, Jenni Palmer, Cathy White, Kate Greenfield, Grainne Nic Fhirleinn, Melanie Douglas, Sandya Tiraputhi, Nahin Hussain, Yvonne Julien, Gautam Ambegaonkar, Deepa Krishnakumar, Jacqui Taylor and 43 more - JAMA Network Open 2022 cited by 88
- 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
- Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
Authors: Sebahattin Çirak, Virginia Arechavala‐Gomeza, Michela Guglieri, Lucy Feng, Silvia Torelli, Karen Anthony, Stephen Abbs, Maria Elena Garralda, John Bourke, Dominic J. Wells, George Dickson, Matthew J. A. Wood, Steve D. Wilton, Volker Straub, Ryszard Kole, Stephen B. Shrewsbury, Caroline A. Sewry, Jennifer E. Morgan, Kate Bushby, Francesco Muntoni - The Lancet 2011 cited by 862
- Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy
Authors: Utkarsh J. Dang, Jesse M. Damsker, Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlová, Volker Straub, L. Mengle-Gaw, Benjamin D. Schwartz, Amy Harper, Perry B. Shieh, Liesbeth De Waele, Diana Castro, Michele Yang, Monique M. Ryan, Craig M. McDonald, M. Tulinius, Richard Webster, Hugh J. McMillan, Nancy L. Kuntz, Vamshi K. Rao, Giovanni Baranello, Stefan Spinty, Anne‐Marie Childs, Annie M. Sbrocchi, Kathryn Selby, Migvis Monduy, Yoram Nevo, Juan J. Vílchez, Andres Nascimento-Osorio, E. Niks, Imelda J. M. de Groot, Marina Katsalouli, John N. van den Anker, Leanne M. Ward, Mika Leinonen, Andrea L. D'Alessandro, Eric P. Hoffman - Neurology 2024 cited by 70
- Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
Authors: Valeria Ricotti, Deborah Ridout, E. Scott, Rosaline C. M. Quinlivan, S. Robb, Adnan Y. Manzur, Francesco Muntoni, Adnan Manzur, Francesco Muntoni, S. Robb, Rosaline C. M. Quinlivan, Valeria Ricotti, Marion Main, Kate Bushby, Volker Straub, Anna Sárközy, Michela Guglieri, E. Strehle, Michelle Eagle, Anna Mayhew, Helen Roper, Heather McMurchie, Anne‐Marie Childs, Karen Pysden, Lindsey Pallant, Stefan Spinty, Guy Peachey, Alison Shillington, Elizabeth Wraige, Heinz Jungbluth, Jennie Sheehan, Robert C. Spahr, Imelda Hughes, Eric D. Bateman, Christopher J Cammiss, Tracey Willis, Lesley J. Groves, N. Emery, Peter Baxter, M. Senior, Louise Hartley, Bruce Parsons, Anirban Majumdar, Lucy Jenkins, Karen Naismith, A. Keddie, Iain Horrocks, Marina Di Marco, Gabby Chow, Aisha Miah, Christian de Goede, Nick Thomas, Michelle Geary, Jenni Palmer, Charles I. White, Kate Greenfield, E. Scott - Journal of Neurology Neurosurgery & Psychiatry 2012 cited by 260
- 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
Authors: Volker Straub, Alexander P. Murphy, Bjarne Udd, C. Angelini, Ségolène Aymé, Carsten Bönneman, Marianne de Visser, Ada Hamosh, Laura Jacobs, Nina Khizanishvili, Madelon Kroneman, Pascal Laflorêt, A. St. J. Murphy, Vincenzo Nigro, Laura Rufibach, Anna Sárközy, Shaun Swanepoel, Ivan Torrente, Bjarne Udd, Andoni Urtizberea, John Vissing, Maggie C. Walter - Neuromuscular Disorders 2018 cited by 384
- 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
- A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy
Authors: Kathryn R. Wagner, James L. Fleckenstein, Anthony A. Amato, Richard J. Barohn, K. Bushby, Diana M. Escolar, Kevin M. Flanigan, Alan Pestronk, Rabi Tawil, Gil I. Wolfe, Michelle Eagle, Julaine Florence, Wendy King, Shree Pandya, Volker Straub, Paul Juneau, Kathleen N. Meyers, Cristina Csimma, Tracey Araujo, Robert H. Allen, Stephanie A. Parsons, John M. Wozney, Edward R. LaVallie, Jerry R. Mendell - Annals of Neurology 2008 cited by 468
- Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease
Authors: Mazen M. Dimachkie, Richard J. Barohn, Barry J. Byrne, Özlem Göker-Alpan, Priya S. Kishnani, Shafeeq Ladha, Pascal Laforêt, Eugen Mengel, Loren Peña, Sabrina Sacconi, Volker Straub, Jaya Trivedi, Philip Van Damme, Ans T. van der Ploeg, John Vissing, Peter Young, Kristina An Haack, Meredith C. Foster, Jane M. Gilbert, P. Miossec, Olivier Vitse, Tianyue Zhou, Benedikt Schoser, on behalf of the NEO-EXT investigators - Neurology 2022 cited by 46
- The burden of Duchenne muscular dystrophy
Authors: Erik Landfeldt, Peter Lindgren, Christopher F. Bell, Claude Schmitt, Michela Guglieri, Volker Straub, Hanns Lochmüller, K. Bushby - Neurology 2014 cited by 228
- Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
Authors: Loren Peña, Richard J. Barohn, Barry J. Byrne, Claude Desnuelle, Özlem Göker-Alpan, Shafeeq Ladha, Pascal Laforêt, Eugen Mengel, Alan Pestronk, Jean Pouget, Benedikt Schoser, Volker Straub, Jaya Trivedi, Philip Van Damme, John Vissing, Peter Young, Katherine Kacena, Raheel Shafi, Beth L. Thurberg, Kerry Culm-Merdek, Ans T. van der Ploeg - Neuromuscular Disorders 2018 cited by 90
- Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Authors: 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 cited by 182
