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Myotonic dystrophy
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults. It is a complex, multi-systemic and progressive disorder that leads to severe fatigue, substantial physical…
Read MoreInvitation to submit to special issues of the Journal of Neuromuscular Diseases
…check out the information on the JND website and contact the guest editors via the editorial office. This issue is guest edited by Jyoti Jaiswal and Kanneboyina Nagaraju and the…
Read MoreKiran Polavarapu
Kiran completed his PhD in 2019 at the National Institute of Mental Health and Neurosciences (NIMHANS) in India. His PhD work involved developing next generation sequencing (NGS)-based tests for detection…
Read MoreNew publication: quality of life of patients with SMA: a systematic review
…a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality. Methods We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000…
Read MoreRachel Thompson
…platform. She is a postdoctoral fellow in the Lochmüller Lab with a research interest in the use of data integration methods for medical genomics and precision medicine in neuromuscular diseases….
Read MoreFormer members
…a Research Coordinator, working on several neuromuscular disease clinical trials for Dr. Lochmüller. Read More Miriam Maisababi Miriam received a BSc Hons. in Biology (Concentration Physiology) in 2021 from Carleton…
Read MoreGood things come in 3s: New publications arising from EU funded collaborations on biomarker research and discovery
…central features of BMD and DMD, with DMD demonstrating further dysregulation in extracellular matrix composition. Is available open access on the Journal of Cachexia, Sarcopenia and Muscle website. Spitali et…
Read MoreLatest edition of the Journal of Neuromuscular Diseases now online – Nov 2019
…defects in inherited neuropathies, and a comprehensive review of dog models for neuromuscular disease. Read it below: Journal of Neuromuscular Diseases: Volume 6, issue 4 *Hanns is joint editor…
Read MoreLab Members Receive Research Poster Awards at National and International Conferences
…There, our fellows had a chance to meet and network with trainees and senior clinicians and researchers from the neuromuscular community, and attend the rich program of clinical practice and…
Read MoreNew publications on neuromuscular transmission defects: international collaboration helps find answers
…and cost per hospitalization between $2550 and $164,730. Costs varied considerably by patient characteristics, type of therapy and need for hospitalization. However, the current body of literature of costs of…
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