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  • Soutenez la recherche dans le domaine des maladies génétiques rares!

Rapports d'atelier ENMC

Developing best practice guidelines for management of mouthpiece ventilation in Neuromuscular Disorders
6-8 March 2020
disponible en français

Polyglucosan Storage Myopathies
13-15 December 2019
disponible en français

The role of brain dystrophin in muscular dystrophy: implications for clinical care and translational research
29 November - 1 December 2019
disponible en français

Myotonic dystrophies: molecular approaches for clinical purposes. Framing a European molecular research network
11-13 October 2019
disponible en français

Muscle Magnetic Imaging: Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts
20-22 September 2019
disponible en français

Clinical trial readiness in nemaline myopathy
6-8 September 2019
disponible en français

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New funding opportunity

The Noa Project calls for projects on Collagen VI Myopathies to help coming closer to a cure or potential therapy.

The LOI is due May 28th 2020. Full proposal upon LOI acceptance are due July 22nd. Proposed funding period September 2020.

See grant call

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Funding opportunity

The Myotubular Trust launches an international call for applications on centronuclear and myotubular myopathy.

Deadline for submission: June 26th, 17h GMT

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CANCELLED OR POSTPONED

SMA Conference 2020, 10-14 June, Orlando: CANCELLED

ERN Translational Summer School, 6-10 July, Leiden: POSTPONED to 2021

New Directions in Biology and Disease of the Skeletal Muscle, 6-9 July, New York: POSTPONED

ICNMD, 10-14 July, Valencia: POSTPONED

Myotonic Annual Conference, 11-12 September, San Diego: POSTPONED to 2021

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The effect of resistance training, detraining and retraining on muscle strength and power, myofibre size, satellite cells and myonuclei in older men.

Blocquiaux S, Gorski T, Van Roie E, Ramaekers M, Van Thienen R, Nielens H, Delecluse C, De Bock K, Thomis M.

Exp Gerontol. 2020 May;133:110860.

11 mai 2020

Functional domains of the FgfrL1 receptor.

Gerber SD, Beauchamp P, Zhuang L, Villiger PM, Trueb B.

Dev Biol. 2020 May 1;461(1):43-54.

01 mai 2020

Selective inhibition of anti-MAG IgM autoantibody binding to myelin by an antigen specific glycopolymer.

Aliu B, Demeestere D, Seydoux E, Boucraut J, Delmont E, Brodovitch A, Oberholzer T, Attarian S, Théaudin M, Tsouni P, Kuntzer T, Derfuss T, Steck AJ, Ernst B, Herrendorff R, Hänggi P.

J Neurochem....

30 avril 2020

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.

Eckhardt J, Bachmann C, Benucci S, Elbaz M, Ruiz A, Zorzato F, Treves S.
Hum Mol Genet. 2020 Apr 2. pii: ddaa056.

06 avril 2020