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New publication: 237th ENMC international workshop: GNE myopathy – current and future research
…pathways studies Initial Standards of care (SOC) document for GNE myopathy patients Recommended items for data collection in patient registries Recommended format for reporting new variants in the GNE gene…
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…childhood-onset neurological disease Lochmüller Lab Members Published as Authors in Nature Communications Study: TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Jun 16 Lochmüller Lab hosts information session on…
Read MoreFoundation grant success for the Lochmüller Lab!
We are thrilled to announce that our Foundation Grant application on Precision Health for Neuromuscular Diseases (NMD) has been funded in the Canadian Institute for Health Research’s 2018 – 2019…
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…
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…website, for instance which pages visitors go to most often, and if they get error messages from web pages. These cookies don’t collect information that identifies a visitor. All information…
Read MoreGrants and funders
…Interconnectome. The New Frontiers in Research Fund and European Commission supports the Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular diseases by exploiting SIMilarities in clinical and molecular PATHology…
Read MoreNew publication: A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
…CMS experts to classify the individual CMS types as a foundation for their use in computer-based diagnostic and decision-support systems in which it is important to differentiate individual entities, for…
Read MoreCHEO Registers Tenth Patient in AMO Reach CDM Clinical Trial
…available to them and shows the international community that this part of Canada is one of the best in the world to run clinical trials in this rare condition.” Dr….
Read MoreNew publication: Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study
…the drug also results in mild improvement in motor and respiratory function in adult patients. Given that the usual course of the disease in adults is a gradual decline in…
Read MoreNew Clinical Trial Opportunities for Children and Adults in Ottawa
…protein levels in muscle tissue following multiple intravenous (IV) doses of DYNE-251 in participants with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping. A Study Of PGN-EDO51 In Participants…
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