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Characterisation of PABPN1 aggregates in OPMD – Interview with Capucine Trollet

The results of an international study conducted by the Institute’s Capucine Trollet and Vincent Mouly team have just been published in Acta Neuropathologica. The article relates to the characterisation of PABPN1 aggregates performed on a unique series of 90 muscle biopsies from OPMD patients, collected from clinicians in France, Canada, the Netherlands and Israel, and on … [Read more]

Experts from the Institute at WMS 2022

The 27th World Muscle Society International Congress (WMS) will be held from October 11 to 15, 2022 in Halifax, Canada, as well as in a virtual version on the congress platform. International muscle experts will gather to discuss basic research, clinical trials and therapeutic advances in neuromuscular diseases. Researchers and clinicians from the Institute will be present, both … [Read more]

ERN EURO-NMD webinar, Oct. 13th : Robert Pangalila (The Netherlands)

Quality of life in Neuromuscular Disease Thursday October 13th, 2022 – 16:00-17:00 (Paris time) Robert Pangalila (Rijndam Rehabilitation Clinic and Erasmus University Medical Centre, The Netherlands)    Please register here to attend the webinar   Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN.

A tool to evaluate cardiac risk in patients with mitochondrial disease – Interview with Karim Wahbi

Prof. Karim Wahbi, a cardiologist, has just published the results of an international study that he coordinated with his “Registries and databases” team at the Institute. The article relates to the prediction of cardiac consequences (complications) in adult patients with mitochondrial diseases*. What is the background to your conduct of this work? We have been … [Read more]

One word to describe the congress “Myology 2022”

Intriguing, friendly, fast-paced, cross-disciplinary… it’s not easy to sum up the 7th edition of the Myology Congress organized by the AFM-Telethon in a single word. Discover the answers of the researchers who took up the challenge! Myology 2022 is over! During 4 days, researchers, clinicians and experts in myology were able to exchange on the … [Read more]

ERN EURO-NMD webinar, Sept. 22nd : Prof. Costanza Lamperti (Italy)

Mitochondrial Genetics Thursday September 22nd, 2022 – 16:00-17:00 (Paris time) Prof. Costanza Lamperti (lstituto Neurologico C.Besta, Milan, Italy)   Please register here to attend the webinar   Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN.

Myology 2022: opening session

On Monday, September 12, took place the opening session of the 7th edition of the international congress Myology 2022 was held with Laurence Tiennot-Herment, president of AFM-Telethon, and the co-presidents of the event, Elisabeth McNally, a specialist in cardiac muscle, and Shahragim Tajbakhsh, a specialist in muscle biology.  

ACTA1 gene-related nemaline myopathies: an international study to clarify phenotypes

Pathological variants of the ACTA1 gene are responsible for half of the cases of nemaline myopathy (also known as rod myopathy). An international collaboration coordinated by the Institute of Myology of Paris collected data on ten new cases of this myopathy. The phenotype was globally very severe with an early onset and a high lethality. … [Read more]

Foundation of Myology : call for scientific applications

  Join the future Foundation to better understand and treat the muscle in every condition.   Why a Foundation of Myology? Myology has grown in France, notably through the creation of the Institute of Myology, the establishment of regional myology centers, the creation of the Filnemus health networks and the French Myology Society, all of which … [Read more]

DM1: RNA toxicity alters astrocyte morphology, adhesion and migration – Interview with Mario Gomes-Pereira

Mario Gomes-Pereira and his team* have just published a paper in Nature Communications** on the toxicity of mutant RNA that alters the morphology, adhesion and migration of astrocytes in mice and humans with myotonic dystrophy type 1 (DM1). Interview with Mario Gomes-Pereira.   What is the background to this work? DM1 is a neuromuscular disease … [Read more]