Neurogenetic and Muscular Disorders Research

TopicLeading institutions, researchers & key papers

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.

299

Works

IDs:OpenAlex

How has Neurogenetic and Muscular Disorders Research's publication output changed over time?

ScholarIQpublication output · 2002–2022

Output grew100% over the shown period — from 1 works in 2002 to 2 in 2022.

200220062012201420172018201920202022

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

New England Journal of Medicine. 20172,312 CitationsOPEN ACCESS

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

New England Journal of Medicine. 20181,443 CitationsOPEN ACCESS

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

S50004817. 20171,058 CitationsOPEN ACCESS

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

Orphanet Journal of Rare Diseases. 2017730 CitationsOPEN ACCESS

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

S50004817. 2017681 CitationsOPEN ACCESS