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New Publication: Analysis of the functional capacity outcome measures for myotonic dystrophy
…outcomes: 6-minute walk test, 30 seconds sit and stand test, timed 10 m walk test, timed 10 m walk/run test, and nine-hole peg test. This, however, required a large-scale investigation.…
Read MoreClinical research
…Jessica MacGregor for adults. If you are a pharmaceutical company interested in Ottawa as a participating centre for your study, please contact Dr Lochmüller directly. For general inquiries about the…
Read MoreNew publication: CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
…transmission failure in utero, resulting in fewer or no fetal movements and multiple joint contractures, or a prenatal myasthenic syndrome. After a certain stage in development, the gamma subunit is…
Read MoreLochmüller Lab hosts information session on clinical research for FSHD
…an information session on clinical research into this genetic neuromuscular condition. In recent years, advances in the understanding of the molecular mechanisms behind FSHD have resulted in a number of…
Read MoreNew publication: Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome
Our new publication by Thompson et al on the treatments available for the congenital myasthenic syndromes (CMS) and the development of a “treatabolome” to improve the accessibility of information on…
Read MoreThe Lochmüller Lab on Lockdown
…and have assembled face-shields which are currently being used by hospital staff. More information about the sewhelpful project can be found at: https://cheofoundation*]}*.com/sewhelpful/ and information on how to 3D print…
Read MoreTherapy development
…to identify which drugs impact the pathways we are interested in. Once we have identified a list of potential compounds, we can test these in our animal and human models…
Read More8.8 million euros for accelerated drug repurposing for rare neurological disorders
…Amsterdam UMC adds: “In addition, it will have a huge impact on the care of patients with rare neurological disorders, for example, by accelerating drug availability for these debilitating conditions.”…
Read MoreLatest Issue of the Journal of Neuromuscular Diseases Now Available – July 2021
…items comprised of research articles, meeting reports and reviews, many of them open access, and is now available online. The JND is dedicated to providing an open forum for…
Read MoreTeam members
…Idoux Romane Idoux completed her PhD in 2022 at the NeuroMyoGene Institute in Lyon (France). Romane is interested in fundamental research on rare neuromuscular disorders, and has joined the Lochmüller…
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