ScholarIQanswers from OpenAlex
Neurogenetic and Muscular Disorders Research
TopicLeading institutions, researchers & key papers
Neurogenetic and Muscular Disorders Research is a topic indexed in ScholarIQ from OpenAlex.
What is known about Neurogenetic and Muscular Disorders Research?
ScholarIQrecord summary
This cluster of papers focuses on the gene therapy, molecular genetics, and clinical management of Spinal Muscular Atrophy (SMA). It covers topics such as SMN1 and SMN2 genes, Nusinersen treatment, antisense oligonucleotide therapies, motor neuron pathology, and the role of survival motor neuron protein in SMA. The cluster also discusses potential therapeutic strategies, including gene replacement therapy and the use of small molecules to modulate SMN expression.
How many works does Neurogenetic and Muscular Disorders Research have?
ScholarIQindexed works
Neurogenetic and Muscular Disorders Research has 299 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.
What is the OpenAlex record for Neurogenetic and Muscular Disorders Research?
ScholarIQopenalex
The OpenAlex for Neurogenetic and Muscular Disorders Research is on the source record.
What are the most-cited papers on Neurogenetic and Muscular Disorders Research?
ScholarIQmost cited works
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
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
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
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
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
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
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
Ingrid E.C. Verhaart, Agata Robertson, Ian Wilson, Annemieke Aartsma‐Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Richard S. Finkel, Eugenio Mercuri, Oscar H. Meyer, Anita K. Simonds, Mary Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena Mazzone, Michael G. Vitale, Brian D. Snyder, Susana Quijano‐Roy, Enrico Bertini, Rebecca Hurst Davis, Ying Qian, Thomas Sejersen
Where is Neurogenetic and Muscular Disorders Research research published, and who funds it?
ScholarIQvenues & funding sources
TOP JOURNALS
TOP FUNDERS
National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
Funder breakdown is a member featureSign up free to unlock
How much of the research on Neurogenetic and Muscular Disorders Research is open access?
ScholarIQopen access share
87%OPEN ACCESS