ϟ

Here's what the top research published in 2022 has to say about neuromuscular disease

Top 25 most cited journal articles on the topic of neuromuscular disease

Neuromuscular disease refers to a group of disorders that affect the muscles and/or nerves that control them. These disorders can cause weakness, muscle wasting, and loss of muscle function. Some examples of neuromuscular diseases include:

  • Muscular dystrophy: a group of inherited genetic disorders that cause muscle weakness and wasting.
  • Myasthenia gravis: an autoimmune disorder that causes weakness in the muscles that control movement.
  • ALS (Amyotrophic lateral sclerosis): a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord.
  • Myopathies: a group of conditions that cause muscle weakness and wasting due to problems with muscle tissue itself.
  • Neuropathies: a group of conditions that cause weakness, numbness, and pain due to damage to nerves.

Symptoms of neuromuscular disease vary depending on the specific condition and can range from mild muscle weakness to severe and disabling muscle weakness, as well as muscle cramps, spasms, twitching and fatigue. Some neuromuscular diseases can also affect other organs, such as the heart and lungs, and may cause difficulty breathing or swallowing.

The treatment for neuromuscular disease depends on the specific condition, but may include medications, physical therapy, and/or surgery. In some cases, there is no cure, and the focus of treatment is to manage symptoms and slow the progression of the disease.

It's important to work with a healthcare professional who specializes in neuromuscular disease to determine the best course of treatment for you.

DOI: 10.1126/science.abl4290
2022
Cited 56 times
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function
Gökcen Eraslan, Eugene Drokhlyansky, Shankara Anand, Evgenij Fiskin, Ayshwarya Subramanian, Michal Slyper, Jiali Wang, Nicholas Van Wittenberghe, John M Rouhana, Julia Waldman, Orr Ashenberg, Monkol Lek, Danielle Dionne, Thet Su Win, Michael S. Cuoco, Olena Kuksenko, Alexander M. Tsankov, Philip A. Branton, Jamie L. Marshall, Anna Greka, Gad Getz, Ayellet V. Segrè, François Aguet, Orit Rozenblatt-Rosen, Kristin G. Ardlie, Aviv Regev
Biology
Cell type
Gene
DOI: 10.1016/s1474-4422(21)00465-8
2022
Cited 29 times
Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis
Stephen A Goutman, Orla Hardiman, Ammar Al-Chalabi, Adriano Chió, Masha G Savelieff, Matthew C Kiernan, Eva L Feldman
Amyotrophic lateral sclerosis
Medicine
Disease
DOI: 10.1016/s1474-4422(21)00462-2
2022
Cited 19 times
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci
Trinucleotide repeat expansion
Hereditary spastic paraplegia
Spinocerebellar ataxia
DOI: 10.1016/j.bspc.2021.103161
2022
Cited 17 times
A hybrid deep transfer learning-based approach for Parkinson's disease classification in surface electromyography signals
Khosro Rezaee, Somayeh Savarkar, Xiaofeng Yu, Jingyu Zhang
Artificial intelligence
Discriminative model
Computer science
DOI: 10.1038/s41586-022-04410-z
2022
Cited 15 times
Early prediction of preeclampsia in pregnancy with cell-free RNA
Mira N. Moufarrej, Sevahn K Vorperian, Ronald J. Wong, Ana A. Campos, Cecele C. Quaintance, Rene V. Sit, Michelle Tan, Angela M. Detweiler, Honey Mekonen, Norma Neff, Courtney Baruch-Gravett, James A Litch, Maurice L. Druzin, Virginia D. Winn, Gary M. Shaw, David K. Stevenson, Stephen R. Quake
Preeclampsia
Pregnancy
Gestation
DOI: 10.1126/sciadv.abm5386
2022
Cited 15 times
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, James Ferguson, Sandy S. Pineda, Carolin K Scriba, Michel Tchan, Andrew J. Martin, Karl Ng, Andrea Cortese, Henry Houlden, Carol Dobson-Stone, Lauren Fitzpatrick, Glenda M. Halliday, Gianina Ravenscroft, Mark M. Davis, Nigel G. Laing, Avi Fellner, Marina L. Kennerson, Kishore R. Kumar, Ira W. Deveson
Nanopore sequencing
Computational biology
Genotyping
DOI: 10.1016/s1474-4422(21)00463-4
2022
Cited 14 times
Advances and ongoing research in the treatment of autoimmune neuromuscular junction disorders
Jan JGM Verschuuren, Jacqueline Palace, Hiroyuki Murai, Martijn R Tannemaat, Henry J Kaminski, Vera Bril
Medicine
Myasthenia gravis
Neuromuscular junction
DOI: 10.1177/2192568220953811
2022
Cited 12 times
Outcomes of Degenerative Cervical Myelopathy From The Perspective of Persons Living With the Condition: Findings of a Semistructured Interview Process With Partnered Internet Survey
Benjamin Davies, Colin Fraser Munro, Danyal Z Khan, Siobhan Mairead Fitzpatrick, Bryn Hilton, Oliver D. Mowforth, Angus G K McNair, Iwan Sadler, Mark R. N. Kotter
Medicine
Focus group
Myelopathy
DOI: 10.1016/s1474-4422(21)00297-0
2022
Cited 11 times
Epidemiology, diagnostics, and biomarkers of autoimmune neuromuscular junction disorders
Anna Rostedt Punga, Paul Maddison, Jeannine M Heckmann, Jeffrey T Guptill, Amelia Evoli
Myasthenia gravis
Medicine
Thymoma
DOI: 10.1093/brain/awac006
2022
Cited 11 times
Gene variant effects across sodium channelopathies predict function and guide precision therapy
Andreas Brunklaus, Tony Feng, Tobias Brünger, Eduardo Perez-Palma, Henrike Heyne, Emma Matthews, Christopher Semsarian, Joseph D. Symonds, Sameer M Zuberi, Dennis Lal, Stephanie Schorge
Sodium channel
Missense mutation
Phenotype
DOI: 10.1073/pnas.2108672119
2022
Cited 11 times
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study
Ruth Chia, Sara Saez-Atienzar, Natalie A. Murphy, Adriano Chiò, Cornelis Blauwendraat, Ricardo H. Roda, Pentti J. Tienari, Henry J. Kaminski, Roberta Ricciardi, Melania Guida, Anna De Rosa, Loredana Petrucci, Amelia Evoli, Carlo Provenzano, Daniel B. Drachman, Bryan J. Traynor, null
Myasthenia gravis
Genome-wide association study
Acetylcholine receptor
DOI: 10.1016/j.cell.2022.04.031
2022
Cited 10 times
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy
Luciano E. Marasco, Gwendal Dujardin, Rui Sousa-Luís, Ying Hsiu Liu, Jose N. Stigliano, Tomoki Nomakuchi, Nick J. Proudfoot, Adrian R. Krainer, Alberto R. Kornblihtt
SMN1
Spinal muscular atrophy
Biology
DOI: 10.1016/j.expneurol.2021.113891
2022
Cited 10 times
Therapeutic acute intermittent hypoxia: A translational roadmap for spinal cord injury and neuromuscular disease
Alicia K. Vose, Joseph F. Welch, Jayakrishnan Nair, Erica A. Dale, Emily J. Fox, Gillian D. Muir, Randy D. Trumbower, Gordon S. Mitchell
Spinal cord injury
Medicine
Clinical trial
DOI: 10.1002/jcla.24403
2022
Cited 10 times
Neurological manifestations in patients with COVID‐19: A systematic review and meta‐analysis
Marzie Mahdizade Ari, Mohamad Hosein Mohamadi, Negar Shadab Mehr, Sajjad Abbasimoghaddam, Amirhosein Shekartabar, Mohsen Heidary, Saeed Khoshnood
Medicine
Meta-analysis
MEDLINE
DOI: 10.1177/2192568220975365
2022
Cited 10 times
Average Lumbar Hounsfield Units Predicts Osteoporosis-Related Complications Following Lumbar Spine Fusion
Jeffery D. St. Jeor, Taylor J. Jackson, Ashley Xiong, Brett A. Freedman, Arjun S. Sebastian, Bradford L. Currier, Jeremy L. Fogelson, Mohamad Bydon, Ahmad Nassr, Benjamin D. Elder
Medicine
Hounsfield scale
Osteoporosis
DOI: 10.1016/s1474-4422(21)00357-4
2022
Cited 9 times
Advances in the understanding of disease mechanisms of autoimmune neuromuscular junction disorders
Maartje G Huijbers, Alexander Marx, Jaap J Plomp, Rozen Le Panse, William D Phillips
Neuromuscular junction
Medicine
Weakness
DOI: 10.1016/j.celrep.2021.110231
2022
Cited 8 times
Stride-level analysis of mouse open field behavior using deep-learning-based pose estimation
Keith Sheppard, Justin Gardin, Gautam Sabnis, Asaf Peer, Megan Darrell, Sean P. Deats, Brian Q Geuther, Cathleen M. Lutz, Vivek A. Kumar
Gait
STRIDE
Gait analysis
DOI: 10.1183/16000617.0208-2021
2022
Cited 8 times
Clinical significance and applications of oscillometry
David A. Kaminsky, Shannon J. Simpson, Kenneth I. Berger, Peter Calverley, Pedro Lopes de Melo, Ronald Dandurand, Raffaele Dellaca, Claude S. Farah, Ramon Farré, Graham L. Hall, Iulia Ioan, Charles G. Irvin, David W. Kaczka, Gregory G. King, Hajime Kurosawa, Enrico Lombardi, Geoffrey N. Maksym, François Marchal, Ellie Oostveen, Beno W. Oppenheimer, Paul D. Robinson, Maarten van den Berge, Cindy Thamrin
Medicine
Intensive care medicine
Spirometry
DOI: 10.3390/molecules27123878
2022
Cited 8 times
Activation of IGF-1/GLP-1 Signalling via 4-Hydroxyisoleucine Prevents Motor Neuron Impairments in Experimental ALS-Rats Exposed to Methylmercury-Induced Neurotoxicity
Ambika Shandilya, Sidharth Mehan, Sumit Kumar, Pranshul Sethi, Acharan Narula, Abdulrahman Alshammari, Metab Alharbi, Abdullah F. Alasmari
Neuroprotection
Neurotoxicity
Excitotoxicity
DOI: 10.1016/j.bspc.2021.103037
2022
Cited 7 times
Neuromuscular disorders detection through time-frequency analysis and classification of multi-muscular EMG signals using Hilbert-Huang transform
Jonathan R. Torres-Castillo, Carlos Omar López-López, Miguel A. Padilla-Castañeda
Hilbert–Huang transform
Pattern recognition (psychology)
Artificial intelligence
DOI: 10.1002/jcsm.12945
2022
Cited 7 times
Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles
Laura Le Gall, William J Duddy, Cecile Martinat, Virginie Mariot, Owen Connolly, Vanessa Milla, Ekene Anakor, Zamalou G Ouandaogo, Stephanie Millecamps, Jeanne Lainé, Udaya Geetha Vijayakumar, Susan Knoblach, Cedric Raoul, Olivier Lucas, Jean Philippe Loeffler, Peter Bede, Anthony Behin, Helene Blasco, Gaelle Bruneteau, Maria Del Mar Amador, David Devos, Alexandre Henriques, Adele Hesters, Lucette Lacomblez, Pascal Laforet, Timothee Langlet, Pascal Leblanc, Nadine Le Forestier, Thierry Maisonobe, Vincent Meininger, Laura Robelin, Francois Salachas, Tanya Stojkovic, Giorgia Querin, Julie Dumonceaux, Gillian Butler Browne, Jose-Luis González De Aguilar, Stephanie Duguez, Pierre Francois Pradat
Amyotrophic lateral sclerosis
Myogenesis
Immunostaining
DOI: 10.1016/j.jelekin.2019.05.014
2022
Cited 7 times
Experimentally quantifying the feasible torque space of the human shoulder
Emma M. Baillargeon, Daniel Ludvig, M. Hongchul Sohn, Constantine P Nicolozakes, Amee L. Seitz, Eric J. Perreault
Rotator cuff
Torque
Repeatability
DOI: 10.1136/jnnp-2021-328665
2022
Cited 7 times
Eculizumab versus rituximab in generalised myasthenia gravis
Christopher Nelke, Christina B Schroeter, Frauke Stascheit, Marc Pawlitzki, Liesa Regner-Nelke, Niklas Huntemann, Ercan Arat, Menekse Öztürk, Nico Melzer, Philipp Mergenthaler, Asmae Gassa, Henning Stetefeld, Michael Schroeter, Benjamin Berger, Andreas Totzeck, Tim Hagenacker, Stefanie Schreiber, Stefan Vielhaber, Hans-Peter Hartung, Andreas Meisel, Heinz Wiendl, Sven G Meuth, Tobias Ruck
Eculizumab
Rituximab
Medicine
DOI: 10.1080/15476286.2022.2066334
2022
Cited 7 times
Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases
Anja Holm, Stine N. Hansen, Henrik Klitgaard, Sakari Kauppinen
Amyotrophic lateral sclerosis
Riluzole
Small interfering RNA
DOI: 10.1093/nar/gkac018
2022
Cited 6 times
Control of backbone chemistry and chirality boost oligonucleotide splice switching activity
Pachamuthu Kandasamy, Graham McClorey, Mamoru Shimizu, Nayantara Kothari, Rowshon Alam, Naoki Iwamoto, Jayakanthan Kumarasamy, Gopal R Bommineni, Adam Bezigian, Onanong Chivatakarn, David C D Butler, Michael Byrne, Katarzyna Chwalenia, Kay E Davies, Jigar S. Desai, Juili Dilip Shelke, Ann F Durbin, Ruth Ellerington, Ben Edwards, Jack Godfrey, Andrew Hoss, Fangjun Liu, Kenneth Longo, Genliang Lu, Subramanian Marappan, Jacopo Oieni, Ik-Hyeon Paik, Erin Purcell Estabrook, Chikdu Shivalila, Maeve Tischbein, Tomomi Kawamoto, Pasquale Striano, Joana Rajão-Saraiva, Snehlata Tripathi, Hailin Yang, Yuan Yin, Xiansi Zhao, Cong Zhou, Jason Zhang, Luciano Apponi, Matthew J A Wood, Chandra Vargeese
Oligonucleotide
Duchenne muscular dystrophy
Biology