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New publication: Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1
…system as well as the muscle. Our new paper in collaboration with colleagues in Germany looks into the question of biomarkers for this multisystemic disorder. “Periostin as a blood biomarker…
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 MoreDiagnostics and gene discovery
…we are including more undiagnosed families in gene discovery research, applying the latest techniques and working in collaboration with major sequencing centres in Canada and Europe and with important international…
Read MoreSally Spendiff
…research team. A senior postdoctoral researcher with experience in Canada and the UK, Sally joined Hanns soon after his appointment in Ottawa and is overseeing the lab setup and expansion.…
Read MoreMeet the lab’s two new members
…cell cycle progression, in adult neural stem cell quiescence and activation. Daniel looks forward to applying his accumulated technical knowledge to support ongoing research projects in Dr. Lochmüller’s lab. …
Read MoreAstrid Eisenkölbl
Dr. Astrid Eisenkölbl is a pediatric neurologist with specialization in neuromuscular medicine at the Department for Paediatric and Adolescent Medicine at the Kepler University Hospital in Linz, Austria….
Read MoreNew Publication: MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses
…the actin-associated protein, Vinculin. MACF1 plays an important role in maintaining synaptic differentiation and efficient synaptic transmission in mice, and variants in MACF1 are associated with congenital myasthenia in humans….
Read MoreRomane 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 Lab…
Read MoreWe’re recruiting!
Join us in a great team in a friendly and welcoming city! Positions will be available for MSc and PhD studentships, postdoctoral fellows and research associates (lab-based and clinical) -…
Read MoreLatest edition of the Journal of Neuromuscular Diseases now online – Apr 2020
…registry of patients with genetically confirmed spinal muscular atrophy – Rationale and study design Improved criteria for the classification of titin variants in inherited skeletal myopathies Characterizing enrollment in observational…
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