Blog Archives
The Institute of Myology is recruiting a Radiographer (M/F)
Situé à Paris au cœur du plus grand centre hospitalier européen, la Pitié-Salpêtrière, l’Institut de Myologie est né en 1996 sous l’impulsion d’une association de malades et parents de malades, l’AFM- Téléthon. Son objectif : favoriser l’existence, la reconnaissance et l’essor de la myologie en tant que discipline clinique et scientifique à part entière. L’Institut … [Read more]
The most frequent abnormalities of the SMN1 gene would concern exons 3 or 6 of the SMN1 gene in Brazil
Data from the literature have established the cause of SMA: 95% of people have a homozygous loss of SMN1 (no copy of the SMN1 gene) and 5% a heterozygous loss of SMN1 (absence of the SMN1 gene on one of the chromosomes and mutation on the other). A retrospective study was carried out in Brazil on … [Read more]
M&M’s – Muscle Monday Seminar – 25 jan – Mario Amendola, PhD (France)
Ex vivo editing of human hematopoietic stem cells for erythroid expression of therapeutic proteins Monday 25 January 2021 – 12:00-13:00 Mario Amendola, PhD (Therapeutic genome editing’ group,UMRS951, Evry, France) Hosted by : Maria-Grazia Biferi On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar of Mario … [Read more]
Validation of a new approach for the non-invasive assessment of muscle volume – Interview with D. Bachasson and J.-Y. Hogrel
The Institute of Myology teams have just published, in the Journal of Cachexia, Sarcopenia and Muscle, the results of a study demonstrating the significant potential of a non-invasive method to measure muscle volume. Interview with Damien Bachasson and Jean-Yves Hogrel, of the Institute of Myology’s Neuromuscular Physiology and Evaluation Laboratory. What is the overall context of … [Read more]
Ophthalmologic monitoring is no longer compulsory for people with SMA treated with risdiplam (Evrysdi®)
Risdiplam (or Evrysdi®) obtained marketing authorization in the United States last August for patients with SMA from 2 months old. Under review by the European regulatory authorities, it is still evaluated by several clinical trials conducted in type II or III SMA (NCT02908685), type I SMA (NCT02913482), in patients aged 6 months to 60 years … [Read more]
The global quantification of muscle in MRI is more interesting than an analytical approach by muscle to judge the evolution of many neuromuscular pathologies
Muscle imaging technologies have become more sophisticated over the years. Among them, magnetic resonance imaging (MRI) plays a role not only in establishing the diagnosis of a good number of acquired or hereditary neuromuscular diseases but also in the evolutionary monitoring of the patient, whether in an individual setting or in a therapeutic protocol. The … [Read more]
M&M’s – Muscle Monday Seminar – 18 Jan – Céline Colnot (France)
Role of skeletal muscle mesenchymal progenitors in bone regeneration Monday 18th January 2021 – 12:00-13:00 Céline Colnot, PhD. (Institut Henri Mondor de Recherche Biomédicale, Créteil, France) Hosted by Capucine Trollet On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar of Céline Colnot
2021: life, let’s put some muscle into it, together
Dear patients and families, Dear donors, Dear partners, We wish you a very happy New Year and excellent health. We hope this New Year brings you the energy for renewal needed to accomplish the projects close to your heart, and we hope these projects are numerous and inspiring! We warmly thank all the … [Read more]
The Institute of Myology is recruiting a Bio-informatic engineer – Projet manager (M/F)
Located in Paris at the heart of the largest European hospital, Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. Its goal: Promote Myology and have it accepted as a standalone clinical and scientific discipline. The Institute of Myology coordinates around the patient, medical care, basic research, applied research, clinical … [Read more]
Retinal thickness in OCT, a potential biomarker of MELAS syndrome
MELAS syndrome, for Mitochondrial myopathy Encephalopathy Lactic Acidosis Stroke-like, is a rare disease. It can occur as myopathy, encephalopathy, lactic acidosis and acute neurological features like pseudo-cerebrovascular accidents. It is a mitochondrial myopathy, caused by mutations in mitochondrial DNA. It can cause visual disturbances, in particular by cortical damage. A team of Japanese ophthalmologists conducted … [Read more]
