📕 New publication from Dr. Eduardo Estephan with Dr. Hanns Lochmuller (lead investigator) Lochmüller Lab as a co-author. 🔬 Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis 🔗 pubmed.ncbi.nlm.nih.gov/34749429/ #neuromuscular #research

Congratulation Caroline le Dour for this beatiful talk 👏🏻👏🏻👏🏻👏🏻#JSFM@Caroline le Dour # institut de myologie

This brief report summarizes the experience of patients with CMS and a confirmed history of COVID-19 infection - no indications of an increased risk of severe disease were found. 🔍You can read more here: bit.ly/3D06a9H #openaccess #nmd #cms Nuffield Department of Clinical Neurosciences MRC WIMM

On the 60th anniversary of the discovery of the satellite cell, this review from King's College London highlights breakthroughs in muscle stem cell research Check it out here: bit.ly/3FeESyo And remember, for December, all articles in this special issue are #openaccess!

Next up from our special issue - Early changes in #skeletalmuscle pathology in a mouse model of #CMT1A, showing muscle atrophy could occur before the extrajunctional expression of AChR Full report here: bit.ly/3FEZi3O #myotwitter #neuromuscular #charcotmarietooth

📕 New publication from Dr. Paulo José Lorenzoni with Dr. Hanns Lochmüller Lochmüller Lab (lead investigator) as a co-author. 🔬 Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis 🔗 pubmed.ncbi.nlm.nih.gov/34932651/ #neuromuscular #CMS

Congrats Deborah Cardoso!👏Read more on this collaborative work with Guilbert Solenn Xavier Nissan I-Stem @NicolasLevy_13 @univamu & A. Muchir Institut de Myologie: Hutchinson-Gilford progeria syndrome: Rejuvenating old drugs to fight accelerated ageing➡️pubmed.ncbi.nlm.nih.gov/32278808/

About 140 years ago Edinger and Westphal described a small brainstem nucleus involved in the pupillary light reflex. Thomas TOPILKO et al Nicolas Renier discovered using 3D imaging/ClearMap & more, that this nucleus also controls nesting behavior in mice 🪆🐭disq.us/t/44x9wl2

We’re delighted to announce that a new registry for patients with #CMS has just been launched within the #CNDR! This new initiative is a part of Dr. Lochmüller’s CIHR-IMHA Community foundation grant for CMS research, and supported by the Neuromuscular Disease Network for Canada (NMD4C). ➡️Read more: bit.ly/3C4CHg4

Using live imaging, optogenetics, & laser-induced tight junction injury, Saranyaraajan Varadarajan, Ann Miller et al MCDB Michigan show that mechanosensitive channel-dependent calcium flashes promote sustained local activation of RhoA and tight junction repair bit.ly/3J2J0Dq

My first!!🥳Innervation of an 8-month-old mouse diaphragm in 3D🤗 #NMJ #Muchirteam #centreofresearchinmyology #ICMQuant #MorganeEuchparmakian #clearing

I am happy to share our latest paper (and my first as co-last author). Congratulations to Myriam Boëx. Bauché Stéphanie Science Signaling

🔴 Live from the ern euro_nmd Board Meeting with our coordinator Teresinha Evangelist at #ICNMD2022 🇧🇪 A big thanks to @ICNMD2022 !

New mutations in Agrin indicate that for patients with SMA suspicion without SMN mutation, it might be worth checking Agrin. Acta Neurochirurgica doi.org/10.1007/s00401… Thanks to our collaborators Lochmüller Lab Cécile Martinat I-Stem CNMDOttawa HCL - Hospices Civils de Lyon and Stephan Kröger

Cérémonie de remise des diplômes de médecine. Promotion Emmanuel Fournier. 2022

Nous recherchons des volontaires pour une étude sur les muscles respiratoires. Promoteur : Institut de Myologie Lieu : laboratoire #BIOMAPS Université Paris-Saclay CEA Paris-Saclay Ville d'Orsay Agglomération Paris-Saclay . Info dans l'annonce ci-dessous ! RT :-)

Recherche 2 personnes pour stage de master (6 mois) au sein de l'UMRS 1158 Sorbonne Université Inserm Paris (évaluation des muscles respiratoires). Voir ci-dessous ! 2 6-mo insternships for MSc students (respiratory muscle testing). See below ! RT :-) #ultrasound

Happy to share our new paper about the identification of a new mutation in LRP4 responsible for congenital myasthenic syndrome. Congratulations to Bauché Stéphanie ! nature.com/articles/s4159…

I am pleased to share with you our latest publication concerning the identification of new mutation in LRP4 responsible for an atypical form of CMS | Scientific Reports. ⁦Centre of Research in Myology (UMRS 974)⁩ ⁦Institut de Myologie⁩ nature.com/articles/s4159…

#MGFA Our muscle experts and researchers presented their work and results at the 15th international conference Myasthenia Gravis Foundation of America this week in La Hague, Netherlands 🔎 See more about their presentations: institut-myologie.org/en/2025/05/15/…