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Hanns Lochmüller is awarded prestigious Tier 1 Canada Research Chair in neuromuscular genomics and health
…chairholders achieve research excellence, improve Canada’s depth of knowledge and quality of life, strengthen the country’s international competitiveness, and train the next generation of highly skilled researchers through student supervision,…
Read MoreDr. Andreas Roos wins Emerging Myologist of the Year Prize at WMS 2023
We are excited to congratulate Dr. Andreas Roos on winning the World Muscle Society’s (WMS) President’s Prize for Emerging Myologist of the Year! This award (formerly the President’s Prize for…
Read MoreRicardo Carmona
…handling, and protocol & force script optimization. As a research technician, he is thrilled to be a part of the lab and helping to conduct research on rare neuromuscular disorders…
Read MoreAwards success for Lochmüller Lab researchers
…awarded a three-year postdoctoral fellowship from the Canadian Institutes for Health Research (CIHR). Rachel’s research project, Solving unsolved neuromuscular diseases: harnessing the power of phenotype and data integration strategies to…
Read MoreDrs Hanns Lochmüller and Mireille Khacho New Leaders of University of Ottawa Eric Poulin Centre for Neuromuscular Disease
…uOttawa Brain and Mind Research Institute (uOBMRI)! Drs. Hanns Lochmüller and Mireille Khacho have been appointed as the new leaders for the Eric Poulin Centre for Neuromuscular Disease (CNMD). …
Read MoreDiseases of interest
…compromised function of the neuromuscular junction (NMJ). The first identified mutations were in genes encoding subunits of the acetylcholine receptors (AChRs), and these remain the most common subtypes of CMS…
Read MoreNew Publication: COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
…in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild weakness, hemiparetic gait, pyramidal findings, and seizures, whereas their intellectual and…
Read MoreRD-Connect webinars on data submission and analysis
…Solve-RD beneficiaries, associated partners and networks: PhenoTips & data submission to GPAP We will show how you can create PhenoTips entries and explain the different steps to submit your data…
Read MoreNew publication: De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure
…and lid muscles, and life threatening events with respiratory failure due to severe apnoea and thorax rigidity. The boy dramatically improved in both respiratory and motor function under carbamazepine therapy….
Read MoreAnu Mary Varghese
Anu is a post-doctoral fellow working on gene therapy for congenital myasthenic syndromes (CMS) and on biomarkers for myotonic dystrophy type 1 (DM1)….
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