Blog Archives
Institute seminar – 12 june – Bertrand Fontaine et Laure Strochlic (France)
Neuromuscular connectivity in health and diseases Monday 12 June 2017 – 10:00-11:00 Bertrand Fontaine et Laure Strochlic (Team GENE‐PHYS ‐ Neurogenetics and physiology, ICM, Paris) Host : Gillian Butler-Browne Amphithéâtre E Faculté de Médecine 105, Bd de l’Hôpital 75013 Paris metro St. Marcel
SMA: European marketing authorisation for Spinraza™ (nusinersen)
Spinraza™ (nusinersen), the first and only treatment for spinal muscular atrophy (SMA), is now available in Europe. Biogen has just announced that it has obtained marketing authorisation for Spinraza™ (nusinersen) in Europe. This is the first drug for the treatment of SMA. Now, every European country will have to evaluate the value of this drug … [Read more]
Release of the latest newsletter from the Institute
Welcome to the 62nd edition of our newsletter! This issue brings you, amongst others, news about Myobank, the Biological Resource Center of the Institute of Myology, which evolves in response to the demands of a team from the Myology Research Center. On 23-24 June, the AFM-Telethon’s Days for Families will take place at … [Read more]
The AFM-Telethon Days for Families at the Parc Floral, Paris, 23-24 June
On 23-24 June, the annual large gathering of the association, its supporters and staff will take place at the Parc Floral, Paris. This privileged moment allows everyone to meet in a festive setting. Members of the Scientific Council, and staff of research institutes: physicians, researchers, coordinators, students, among others, join the families during this great … [Read more]
Myobank-AFM broadens its scope
Myobank-AFM, the biological resource center of the Institute of Myology, has evolved to meet the demands of a team from the Institute’s Myology Research Center. Until now, biological material has been collected in France, stored and exported at the request of French and international research teams working on neuromuscular diseases. To respond to a specific … [Read more]
Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies
Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive diseases that affect dystrophin production resulting in compromised muscle function across multiple systems. The International Classification of Functioning, Disability and Health provides a systematic classification scheme from which body functions affected by a dystrophinopathy can be identified and used to examine … [Read more]
Gait analysis in GRMD dogs using linear discriminant analysis
Accelerometric analysis of gait abnormalities in golden retriever muscular dystrophy (GRMD) dogs is of limited sensitivity, and produces highly complex data. The use of discriminant analysis may enable simpler and more sensitive evaluation of treatment benefits in this important preclinical model. Here, the authors describe a new method of 3D accelerometric gait analysis using linear … [Read more]
Institute seminar – 29 May – Rémi Mounier (France)
Cell- and non-cell-autonomous metabolic regulations of muscle stem cell fateband skeletal muscle homeostasis Monday 29 May 2017 – 12:00-13:00 Rémi Mounier (Institut NeuroMyogène, CNRS UMR 5310 – INSERM U1217 – Université de Lyon, France) Host : Fabien Le Grand Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro … [Read more]
OPMD: efficacy of dual gene therapy in mice
A team supported by the AFM-Telethon has provided proof-of-concept for the efficacy of a dual gene therapy approach in a mouse model OPMD. Oculopharyngeal muscular dystrophy (OPMD) is due to an abnormal increase in the number of repetitions of a GCG triplet in the PABPN1 gene that disrupts the functioning of the muscle cell. Usually, … [Read more]
Identification of novel gene that causes autosomal dominant distal hereditary motor neuropathy
Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterised by distal limb muscle weakness and atrophy. Although at least 15 genes have been implicated in distal hereditary motor neuropathy, the genetic causes remain elusive in many families. To identify an additional causal gene for distal hereditary motor neuropathy, the authors performed … [Read more]
