Blog Archives
The RMN lab offers a PhD opportunity on the development of real-time quantitative MRI for muscles involved in respiration, swallowing and eye movements
PhD opportunity at the Nuclear Magnetic Resonance Laboratory at Institute of Myology. Development of real-time quantitative MRI for muscles involved in respiration, swallowing and eye movements Keywords: Muscle MRI, real-time MRI, undersampled reconstruction, non-Cartesian MRI acquisition ➣ Context Quantitative MRI (qMRI) is a well-established tool for the in vivo characterization and longitudinal monitoring of skeletal … [Read more]
The RMN lab offers a PhD opportunity on Low Field MR-Fingerprinting for respiratory assessment
PhD opportunity at the Nuclear Magnetic Resonance Laboratory at Institute of Myology. Low Field MR-Fingerprinting for respiratory assessment Keywords: Low-field MRI, sequence development, undersampled reconstruction and optimization, AI-based denoising, respiratory function. ➣ Context Pulmonary and muscle tissues involved in the respiratory function can be affected in various diseases (COPD, neuromuscular diseases, CoViD…). Quantitative MRI has … [Read more]
A revision of the classification of congenital myopathies in the light of recent discoveries
The team at the Créteil Neuromuscular Disease Reference Centre takes stock of congenital myopathies in the light of the recent exponential increase in knowledge in this field: in addition to the histological criteria which largely contributed to their original descriptions, genetics has enabled new entities to be discovered and their contours to be better defined, … [Read more]
M&M’s – Muscle Monday Seminar – 12 May – Remi Mounier (France)
Metabolic regulations of adult muscle stem cell fate Monday 12 May 2025 – 12h00-13h00 Remi Mounier (NeuroMyoGène, Lyon, France) More information on the presentation and the speaker On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr M&M’s seminar organised by the Center of Research in Myology, at the Institute of Myology.
Immune-mediated necrotising myopathy in children, a Chinese picture
A study conducted by a hospital in Beijing (China) has refined our knowledge of the phenotype of immune-mediated necrotising myopathy in paediatrics: 55 of the 116 children and adolescents followed up for myositis by this centre between 2012 and 2024 had immune-mediated necrotising myopathy, a much higher proportion (47.4%) than expected, but one that would … [Read more]
ERN EURO-NMD webinar, 15 May: Dr. Teresinha Evangelista (France)
FSHD webinar series – Episode 2: “International Clinical Care Guidelines” Thursday 15 May 2025 – 16:00 – 17:00 Paris time Dr. Teresinha Evangelista (Institute of Myology & Pitié Salpêtrière Hospital – AP-HP, Paris, France) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
ERN EURO-NMD webinar, 8 May: Prof. Emiliano Giardina (Italy)
FSHD webinar series – Episode 1: “Genetic Diagnosis” Thursday 8 May 2025 – 16:00 – 17:00 Paris time Prof. Emiliano Giardina (University of Rome Tor Vergata, Italy) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
Long-term data on the evolution of patients with congenital myopathy
The Centre de référence des maladies neuromusculaires of the Institute of Myology conducted a single-centre observational study of 142 adult patients with congenital myopathy followed up between 1996 and 2019, for a median duration of 8 years. Congenital myopathies with cores linked to the RYR1 gene and centronuclear myopathies linked to the DNM2 gene were … [Read more]
Positive results with gene therapy in a monkey model of DMD
A Chinese team has developed a rhesus monkey model of Duchenne muscular dystrophy, enabling it to evaluate a new gene therapy, with encouraging results. The DMDEx50 animal model has mutations in exon 50 of the DMD gene. A single-vector gene therapy called MyoAAV/Cas12iMax/sgRNA3Ex51 targeting exon 51 of the DMD gene was developed using Cas12iMax technology … [Read more]
Overexpressing utrophin in DMD: a new therapeutic approach in the spotlight
Chinese researchers have revived a therapeutic technique designed to over-express utrophin, an endogenous protein very similar to dystrophin: they used a genome-editing approach in several models (cellular and animal) of Duchenne muscular dystrophy (DMD) combined with a Myo-AAV muscle-specific viral vector (to obtain MyoAAV-UA). after administration, robust and long-lasting overexpression of utrophin was obtained in … [Read more]
