5th Global Conference on Myositis
March 13-16, Pittsburgh, USA - hybrid
A unique opportunity to meet and discuss topics on myositis research from different perspectives. Strong attention has been paid to stimulating the active participation of young physicians and scientists.
****************************************************************
4th International Scientific Congress on SMA
Ghent, Belgium, 14-16 March 2024
The goal of the scientific congress is to bring together an international and multi-disciplinary group of scientists and health-care professionals.
**********************************************
Myology 2024
Paris, 22-25 April 2024
This conference offers a comprehensive overview of the latest breakthroughs in muscle science, with a particular focus on disease-modifying therapies and medical advancements for neuromuscular diseases .
**************************************************************
Rare Disease Day 2024
2. März 2024, Bern
Neues über kosek, Schweizer Register seltene Krankheiten, nationales Konzept seltene Krankheiten, Zentren Seltene Krankheiten.
Programm und Anmeldung
**********************************************************
ENMC workshops
The call for regular workshop applications is open.
The call for themed workshop application is open and focuses on two topics: 1. Challenges of complex drugs and therapies in neuromuscular disorders; 2. Artificial intelligence (AI) and/or data sharing in neuromuscular disorders
Deadline: 1 March 2024
How to submit a workshop application
***********************************
14th International Myotonic Dystrophy Consortium Meeting
Nijmegen, The Netherlands, 9-13 April 2024
A great opportunity to learn, share, and network with all those currently active in the field of myotonic dystrophy: scientists, clinicians, patients, patient representatives, and professionals from the pharmaceutical industry.
***********************************************
New papers
___________________________________
A model of human neural networks reveals NPTX2 pathology in ALS and FTLD.
Hruska-Plochan M, Wiersma VI, Betz KM, Mallona I, Ronchi S, Maniecka Z, Hock EM, Tantardini E, Laferriere F, Sahadevan S, Hoop V, Delvendahl I, Pérez-Berlanga M, Gatta B, Panatta M, van der Bourg A,...
14 Februar 2024
Direct reprogramming of non-limb fibroblasts to cells with properties of limb progenitors.
Atsuta Y, Lee C, Rodrigues AR, Colle C, Tomizawa RR, Lujan EG, Tschopp P, Galan L, Zhu M, Gorham JM, Vannier JP, Seidman CE, Seidman JG, Ros MA, Pourquié O, Tabin CJ.
Dev Cell. 2024 Feb...
05 Februar 2024
Autoreactive T cells target peripheral nerves in Guillain-Barré syndrome.
Súkeníková L, Mallone A, Schreiner B, Ripellino P, Nilsson J, Stoffel M, Ulbrich SE, Sallusto F, Latorre D.
Nature. 2024 Jan 17. doi: 10.1038/s41586-023-06916-6.
17 Januar 2024
Native collagen VI delays muscle stem cell early differentiation.
Metti S, Ros FD, Toniato G, Cescon M, Bonaldo P.
J Cell Sci. 2024 Jan 15:jcs.261419.
15 Januar 2024
The ER stress sensor IRE1 interacts with STIM1 to promote store-operated calcium entry, T cell activation, and muscular differentiation.
Carreras-Sureda A, Zhang X, Laubry L, Brunetti J, Koenig S, Wang X, Castelbou C, Hetz C, Liu Y, Frieden M, Demaurex N.
Cell Rep. 2023 Dec 26;42(12):113540.
26 Dezember 2023
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.
Vicino A, Bello L, Bonanno S, Govoni A, Cerri F, Ferraro M, Capece G, Gadaleta G, Meneri M, Vacchiano V, Ricci G, D'Errico E, Tramacere I, Banfi P, Bortolani S, Zanin R, Maioli MA, Silvestrini M,...
22 Dezember 2023
Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.
Noda Y, Miyoshi H, Benucci S, Gonzalez A, Bandschapp O, Girard T, Treves S, Zorzato F.
Neuromuscul Disord. 2023 Dec;33(12):951-963
14 Dezember 2023
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn MF, Beijer D, Lone MA, Bayraktar E, Oflazer P, Orbach R, Donkervoort S, Foley AR, Rose A, Lyons M, Louie RJ, Gable K, Dunn T, Chen S, Danzi MC, Synofzik M, Bönnemann CG, Nazlı Başak A,...
01 Dezember 2023
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE,...
01 Dezember 2023
Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders.
Gomez Limia C, Baird M, Schwartz M, Saxena S, Meyer K, Wein N.
J Pers Med. 2022 Nov 30;12(12):1979.
16 November 2023